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Q0001:What does it mean for genetic code to be commaless?
Genetics Flash Facts
1
Read from a fixed starting point as a continuous sequence of
bases
Genetics Flash Facts
2
Q0002:What does it mean for genetic code to be non-
overlapping?
Genetics Flash Facts
3
Read from a fixed starting point
Genetics Flash Facts
4
Q0003:What does it mean for genetic code to be universal?
Genetics Flash Facts
5
Genetic code is conserved throughout evolution
Genetics Flash Facts
6
Q0004:What are the properties of the genetic code?
Genetics Flash Facts
7
1. Unambiguous;2. Degenerate/redundant;3.
Commaless/nonoverlapping;4. Universal
Genetics Flash Facts
8
Q0005:When is genetic code not commaless/nonoverlapping?
Genetics Flash Facts
9
In some viruses
Genetics Flash Facts
10
Q0006:What are exceptions to universality of genetic code?
Genetics Flash Facts
11
1. Mitochondria;2. Archaebacteria;3. Mycoplasma;4. Some
yeasts
Genetics Flash Facts
12
Q0007:Name that mutation: Same amino acid; often with a
base change in 3rd position of codon
Genetics Flash Facts
13
Silent mutation
Genetics Flash Facts
14
Q0008:What kind of mutation is called: silent
Genetics Flash Facts
15
Same amino acid; often with a base change in 3rd position of
codon
Genetics Flash Facts
16
Q0009:What mutation is masked by tRNA wobble?
Genetics Flash Facts
17
Silent mutations
Genetics Flash Facts
18
Q0010:Name that mutation: Changed amino acid whose
structure is dissimilar to proper amino acid
Genetics Flash Facts
19
Missense mutation (not conservative)
Genetics Flash Facts
20
Q0011:Name that mutation: Changed amino acid whose
structure is similar to proper amino acid
Genetics Flash Facts
21
Conservative missense mutation
Genetics Flash Facts
22
Q0012:What kind of mutation is called: missense
Genetics Flash Facts
23
Amino acid is changed. If the structure of the new amino acid
is similar to the original; it is called conservative.
Genetics Flash Facts
24
Q0013:Name that mutation: Change resulting in early stop
codon
Genetics Flash Facts
25
Nonsense mutation;(Mnemonic: Stop the nonsense!)
Genetics Flash Facts
26
Q0014:What kind of mutation is called: nonsense
Genetics Flash Facts
27
Change resulting in early stop codon;(Mnemonic: Stop the
nonsense!)
Genetics Flash Facts
28
Q0015:Name that mutation: change resulting in misreading of
all nucleotides downstream; usually resulting in a truncated
protein
Genetics Flash Facts
29
Frame shift mutation
Genetics Flash Facts
30
Q0016:What kind of mutation is called: frameshift
Genetics Flash Facts
31
change resulting in misreading of all nucleotides downstream;
usually resulting in a truncated protein
Genetics Flash Facts
32
Q0017:Mutations ordered by decreasing severity of damage
Genetics Flash Facts
33
1. Nonsense;2. Missense;3. Silent
Genetics Flash Facts
34
Q0018:Eukaryotic genome: single/multiple origins of
replication
Genetics Flash Facts
35
multiple
Genetics Flash Facts
36
Q0019:Prokaryotic genome: single/multiple origins of
replication
Genetics Flash Facts
37
single
Genetics Flash Facts
38
Q0020:Eukaryotic genome: Trigger for replication
Genetics Flash Facts
39
Consensus sequence of AT-rich base pairs
Genetics Flash Facts
40
Q0021:Prokaryotic genome: Describe DNA replication
Genetics Flash Facts
41
Continuous bidirectional DNA synthesis on leading strand
and discontinuous (Okazaki fragments) on lagging strand
Genetics Flash Facts
42
Q0022:Enzyme function: DNA topoisomerases
Genetics Flash Facts
43
Create a nick in the helix to relieve supercoils
Genetics Flash Facts
44
Q0023:DNA Topoisomerase I: Mechanism
Genetics Flash Facts
45
cuts one strand; passes the other through it then reanneals the
cut strand
Genetics Flash Facts
46
Q0024:DNA Topoisomerase II: Mechanism
Genetics Flash Facts
47
cuts both strands; and passes an unbroken double strand
through it then reanneals the cut strand
Genetics Flash Facts
48
Q0025:Enzyme function: Primase
Genetics Flash Facts
49
Makes an RNA primer on which DNA polymerase III can
initiate replication
Genetics Flash Facts
50
Q0026:DNA polymerase III: Mechanism
Genetics Flash Facts
51
1. Adds deoxynucleotides to the 3' end until it reaches primer
of preceding fragment;2. 3' to 5' exonuclease activity
"proofreads" each added nucleotide
Genetics Flash Facts
52
Q0027:DNA polymerase III: Which direction does it read?
Genetics Flash Facts
53
3' to 5'
Genetics Flash Facts
54
Q0028:DNA polymerase III: Which direction does it write?
Genetics Flash Facts
55
5' to 3'
Genetics Flash Facts
56
Q0029:DNA polymerase III: Which direction does it
proofread?
Genetics Flash Facts
57
3' to 5'
Genetics Flash Facts
58
Q0030:Enzyme function: DNA polymerase III
Genetics Flash Facts
59
Elongates the chain
Genetics Flash Facts
60
Q0031:Enzyme function: DNA polymerase I
Genetics Flash Facts
61
Degrades RNA primer and fills in the gap with DNA
Genetics Flash Facts
62
Q0032:DNA polymerase I: Which direction does it read?
Genetics Flash Facts
63
3' to 5'
Genetics Flash Facts
64
Q0033:DNA polymerase I: Which direction does it write?
Genetics Flash Facts
65
5' to 3'
Genetics Flash Facts
66
Q0034:DNA polymerase I: Which direction does it
proofread?
Genetics Flash Facts
67
5' to 3'
Genetics Flash Facts
68
Q0035:Enzyme function: DNA helicase
Genetics Flash Facts
69
Separates the two strands of DNA into single strands
allowing for replication to occur. The position of these
separated strands is called the replication fork.
Genetics Flash Facts
70
Q0036:Types of DNA repair
Genetics Flash Facts
71
Single stranded;1. Nucleotide excision repair;2. Base excision
repair;3. Mismatch repair;Double stranded;1. Nonhomologous
end joining
Genetics Flash Facts
72
Q0037:Nucleotide excision repair: Mechanism
Genetics Flash Facts
73
1. Specific endonucleases release the oligonucleotide
containing damaged bases;2. DNA polymerase and ligase fill
and reseal the gap; respectively
Genetics Flash Facts
74
Q0038:In what condition is nucleotide excision repair
mutated?
Genetics Flash Facts
75
Xeroderma pigmentosa (dry skin with melanoma and other
cancers)
Genetics Flash Facts
76
Q0039:Base excision repair: Mechanism
Genetics Flash Facts
77
1. Specific glycosylases recognize and remove damaged
bases;2. AP endonuclease cuts DNA at apyrimidinic site;3.
Empty sugar is removed;4. Gap is refilled and resealed
Genetics Flash Facts
78
Q0040:Mismatch repair: Mechanism
Genetics Flash Facts
79
1. Unmethylated; newly synthesized string is recognized;2.
Mismatched nucleotides are removed;3. Gap is refilled and
resealed
Genetics Flash Facts
80
Q0041:In what condition is mismatch excision repair
mutated?
Genetics Flash Facts
81
Hereditary Nonpolyposis Colon Cancer
Genetics Flash Facts
82
Q0042:Nonhomologous end joining: Mechanism
Genetics Flash Facts
83
Brings together two ends of DNA fragments (no requirement
for homology)
Genetics Flash Facts
84
Q0043:What is on the 5' end of a nucleotide
Genetics Flash Facts
85
Triphosphate
Genetics Flash Facts
86
Q0044:What is on the 3' end of a nucleotide
Genetics Flash Facts
87
Hydroxyl group
Genetics Flash Facts
88
Q0045:True/False: DNA is synthesized 5' to 3'
Genetics Flash Facts
89
True
Genetics Flash Facts
90
Q0046:True/False: DNA is synthesized 3' to 5'
Genetics Flash Facts
91
False
Genetics Flash Facts
92
Q0047:True/False: RNA is synthesized 5' to 3'
Genetics Flash Facts
93
True
Genetics Flash Facts
94
Q0048:True/False: RNA is synthesized 3' to 5'
Genetics Flash Facts
95
False
Genetics Flash Facts
96
Q0049:True/False: Protein synthesis proceeds 5' to 3'
Genetics Flash Facts
97
True
Genetics Flash Facts
98
Q0050:True/False: Protein synthesis proceeds 3' to 5'
Genetics Flash Facts
99
False
Genetics Flash Facts
100
Q0051:Types of RNA and their important qualities
Genetics Flash Facts
101
Massive; Rampant; Tiny;mRNA is the largest type;rRNA is
the most abundant type;tRNA is the smallest type
Genetics Flash Facts
102
Q0052:What does eukaryotic RNA polymerase I make?
Genetics Flash Facts
103
rRNA
Genetics Flash Facts
104
Q0053:What does eukaryotic RNA polymerase II make?
Genetics Flash Facts
105
mRNA
Genetics Flash Facts
106
Q0054:What does eukaryotic RNA polymerase III make?
Genetics Flash Facts
107
tRNA
Genetics Flash Facts
108
Q0055:Which RNA polymerase makes rRNA?
Genetics Flash Facts
109
eukaryotic RNA polymerase I and prokaryotic RNA
polymerase
Genetics Flash Facts
110
Q0056:Which RNA polymerase makes mRNA?
Genetics Flash Facts
111
eukaryotic RNA polymerase II and prokaryotic RNA
polymerase
Genetics Flash Facts
112
Q0057:Which RNA polymerase makes tRNA?
Genetics Flash Facts
113
eukaryotic RNA polymerase III and prokaryotic RNA
polymerase
Genetics Flash Facts
114
Q0058:True/False: RNA polymerase proofreads.
Genetics Flash Facts
115
False
Genetics Flash Facts
116
Q0059:True/False: RNA polymerase does not proofread.
Genetics Flash Facts
117
True
Genetics Flash Facts
118
Q0060:Special points about RNA polymerase II
Genetics Flash Facts
119
1. Opens DNA at promoter site;2. Inhibited by alpha-
amanitin
Genetics Flash Facts
120
Q0061:What does alpha-amanitin do?
Genetics Flash Facts
121
Inhibits RNA polymerase II leading to hepatic necrosis
Genetics Flash Facts
122
Q0062:mRNA initiation codons
Genetics Flash Facts
123
1. AUG (inAUGurates protein synthesis);2. GUG (rarely)
Genetics Flash Facts
124
Q0063:What does the mRNA initiation codon code for?
Genetics Flash Facts
125
Methionine in eukaryotes. formyl-methionine in prokaryotes.
Genetics Flash Facts
126
Q0064:mRNA stop codons
Genetics Flash Facts
127
1. UGA (U Go Away);2. UAA (U Are Away);3. UAG (U
Are Gone)
Genetics Flash Facts
128
Q0065:Define promoter of gene expression.
Genetics Flash Facts
129
Site where RNA polymerase and multiple other transcription
factors bind to DNA upstream from gene locus
Genetics Flash Facts
130
Q0066:What characterizes a promoter of gene expression?
Genetics Flash Facts
131
AT-rich upstream sequence with TATA and CAAT boxes
Genetics Flash Facts
132
Q0067:What is the result of promoter mutation?
Genetics Flash Facts
133
Dramatic decrease in amount of gene transcribed
Genetics Flash Facts
134
Q0068:Define enhancer of gene expression.
Genetics Flash Facts
135
Stretch of DNA that alters gene expression by binding
transcription factors. May be located close to; far from; or
even within the gene whose expression it regulates.
Genetics Flash Facts
136
Q0069:Define operator of gene expression
Genetics Flash Facts
137
Site where repressors bind
Genetics Flash Facts
138
Q0070:What is alternative splicing?
Genetics Flash Facts
139
Rearrangement of exons to make unique proteins
Genetics Flash Facts
140
Q0071:What is the sequence of mRNA splicing?
Genetics Flash Facts
141
1. Primary transcript combines with snRNP ("snerp") to form
spliceosome;2. Lariat-shaped intermediate is generated;3.
Lariat is released to remove intron precisely and join two
exons
Genetics Flash Facts
142
Q0072:Where and when does eukaryotic RNA processing
happen?
Genetics Flash Facts
143
In the nucleus after transcription
Genetics Flash Facts
144
Q0073:What is the initial RNA transcript called?
Genetics Flash Facts
145
heterogeneous nuclear RNA (hnRNA)
Genetics Flash Facts
146
Q0074:What are the steps in processing hnRNA to make
mRNA? (Note: This is more than splicing.)
Genetics Flash Facts
147
1. Capping on 5' end with 7-methyl-G;2. Polyadenylation on
3' end (approximately 200 As);3. Splicing out of introns
Genetics Flash Facts
148
Q0075:How many nucleotides does tRNA contain?
Genetics Flash Facts
149
75 to 90 nucleotides
Genetics Flash Facts
150
Q0076:What sequence does every tRNA share at the 3' end?
Genetics Flash Facts
151
CCA along with a high percentage of chemically modified
bases
Genetics Flash Facts
152
Q0077:Amino acid binding to tRNA: Where (on the tRNA)
and how?
Genetics Flash Facts
153
Where: 3' end;How: Covalently
Genetics Flash Facts
154
Q0078:What is the enzyme involved in processing tRNA
Genetics Flash Facts
155
Aminoacyl tRNA synthetase (uses 1 ATP)
Genetics Flash Facts
156
Q0079:Aminoacyl tRNA synthetase: Mechanism
Genetics Flash Facts
157
1. Scrutinizes amino acid before it binds to tRNA;2. Binds
AMP-amino group to 3' end of tRNA;3. Scrutinizes amino
acid again. If incorrect; bond is hydrolyzed.
Genetics Flash Facts
158
Q0080:What is wrong with a mischarged tRNA
Genetics Flash Facts
159
Reads the regular bond but inserts wrong amino acid.
Genetics Flash Facts
160
Q0081:Which position on the codon is the wobble position?
Genetics Flash Facts
161
3rd position
Genetics Flash Facts
162
Q0082:Names of the steps in protein synthesis
Genetics Flash Facts
163
1. Initiation;2. Elongation;3. Termination
Genetics Flash Facts
164
Q0083:Sequence of events in the initiation step of protein
synthesis.
Genetics Flash Facts
165
1. Initiation factors assemble the 40S ribosomal subunit with
the initiator tRNA;2. mRNA and (60S?) ribosomal subunit
combine with the 40S subunit;3. Initiation factors are released.
Genetics Flash Facts
166
Q0084:Sequence of events in the elongation step of protein
synthesis.
Genetics Flash Facts
167
1. Aminoacyl tRNA binds to the A site;2. Peptidyltransferase
catalyzes peptide bond formation;3. Peptidyltransferase
transfers growing polypeptide to amino acid in A site;4.
Ribosome advances three nucleotides toward 3' end of RNA
moving peptidyl RNA to P site.
Genetics Flash Facts
168
Q0085:Sequence of events in the termination step of protein
synthesis.
Genetics Flash Facts
169
1. Completed protein is released from ribosome;2. Ribosome
dissociates.
Genetics Flash Facts
170
Q0086:Role of ATP in protein synthesis
Genetics Flash Facts
171
ATP does tRNA Activation (charging)
Genetics Flash Facts
172
Q0087:Role of GTP in protein synthesis
Genetics Flash Facts
173
GTP does tRNA Going places (aka translocation) and
Gripping
Genetics Flash Facts
174
Q0088:Role of A site in protein synthesis
Genetics Flash Facts
175
A site holds incoming Aminoacyl tRNA.
Genetics Flash Facts
176
Q0089:Role of P site in protein synthesis
Genetics Flash Facts
177
P site accomodates growing Peptide.
Genetics Flash Facts
178
Q0090:Role of E site in protein synthesis
Genetics Flash Facts
179
E site holds Empty tRNA as it Exits
Genetics Flash Facts
180
Q0091:Which post-translational modification involves
removal of N or C terminal pro-peptides from zymogens to
generate mature proteins?
Genetics Flash Facts
181
Trimming
Genetics Flash Facts
182
Q0092:What happens in post-translational trimming?
Genetics Flash Facts
183
removal of N or C terminal pro-peptides from zymogens to
generate mature proteins
Genetics Flash Facts
184
Q0093:Which post-translational modification involves
phosphorylation?
Genetics Flash Facts
185
post-translational covalent alteration
Genetics Flash Facts
186
Q0094:What happens during post-translational covalent
alterations?
Genetics Flash Facts
187
Either;1. Phosphorylation;2. Glycosylation;3. Hydroxylation
Genetics Flash Facts
188
Q0095:Which post-translational modification involves
glycosylation?
Genetics Flash Facts
189
post-translational covalent alteration
Genetics Flash Facts
190
Q0096:Which post-translational modification involves
hydroxylation?
Genetics Flash Facts
191
post-translational covalent alteration
Genetics Flash Facts
192
Q0097:What happens during proteasomal degradation?
Genetics Flash Facts
193
Attachment of ubiquitin to defective proteins to tag them for
breakdown.
Genetics Flash Facts
194
Q0098:Ubiquitin or Ubiquinone: Proteosomal degradation
Genetics Flash Facts
195
Ubiquitin
Genetics Flash Facts
196
Q0099:Ubiquitin or Ubiquinone: Coenzyme Q in oxidative
phosphorylation
Genetics Flash Facts
197
Ubiquinone
Genetics Flash Facts
198
Q0100:Where in the cell does the following occur: Fatty acid
oxidation (beta-oxidation)
Genetics Flash Facts
199
Mitochondria
Genetics Flash Facts
200
Q0101:Where in the cell does the following occur: acetyl-CoA
production
Genetics Flash Facts
201
Mitochondria
Genetics Flash Facts
202
Q0102:Where in the cell does the following occur: Krebs cycle
Genetics Flash Facts
203
Mitochondria
Genetics Flash Facts
204
Q0103:Where in the cell does the following occur: Glycolysis
Genetics Flash Facts
205
Cytoplasm
Genetics Flash Facts
206
Q0104:Where in the cell does the following occur: Fatty acid
synthesis
Genetics Flash Facts
207
Cytoplasm
Genetics Flash Facts
208
Q0105:Where in the cell does the following occur: Hexose
Monophosphate Shunt
Genetics Flash Facts
209
Cytoplasm
Genetics Flash Facts
210
Q0106:Where in the cell does the following occur: Protein
Synthesis
Genetics Flash Facts
211
Rough endoplasmic reticulum in the cytoplasm
Genetics Flash Facts
212
Q0107:Where in the cell does the following occur: Steroid
synthesis
Genetics Flash Facts
213
Smooth endoplasmic reticulum in the cytoplasm
Genetics Flash Facts
214
Q0108:Where in the cell does the following occur:
Gluconeogenesis
Genetics Flash Facts
215
Pathway has steps in the mitochondria and in the cytoplasm
Genetics Flash Facts
216
Q0109:Where in the cell does the following occur: Urea cycle
Genetics Flash Facts
217
Pathway has steps in the mitochondria and in the cytoplasm
Genetics Flash Facts
218
Q0110:Where in the cell does the following occur: Heme
synthesis
Genetics Flash Facts
219
Pathway has steps in the mitochondria and in the cytoplasm
Genetics Flash Facts
220
Q0111:What type of bonds hold the phosphoryls together in
ATP; and how much energy are the bonds worth?
Genetics Flash Facts
221
Phosphoanhydride bonds are worth 7 kilocalories per mole
(but only between the alpha and beta and the beta and the
gamma; thus AMP's phosphoryl is not cleaved off for energy)
Genetics Flash Facts
222
Q0112:How many ATP molecules are produced by aerobic
metabolism of glucose?
Genetics Flash Facts
223
38 via the Malate shuttle; and 36 via the G3P shuttle.
Genetics Flash Facts
224
Q0113:In aerobic metabolism of glucose; which pathway
produces 38 ATP?
Genetics Flash Facts
225
Malate shuttle
Genetics Flash Facts
226
Q0114:In aerobic metabolism of glucose; which pathway
produces 36 ATP?
Genetics Flash Facts
227
G3P shuttle
Genetics Flash Facts
228
Q0115:How much ATP is produced by anaerobic glycolysis?
Genetics Flash Facts
229
2 ATP per glucose
Genetics Flash Facts
230
Q0116:What is this molecule an activated carrier of?: ATP
Genetics Flash Facts
231
Phosphoryls
Genetics Flash Facts
232
Q0117:What is this molecule an activated carrier of?: NADH
Genetics Flash Facts
233
Electrons
Genetics Flash Facts
234
Q0118:What is this molecule an activated carrier of?: NADPH
Genetics Flash Facts
235
Electrons
Genetics Flash Facts
236
Q0119:What is this molecule an activated carrier of?: FADH2
Genetics Flash Facts
237
Electrons
Genetics Flash Facts
238
Q0120:What is this molecule an activated carrier of?:
Coenzyme A
Genetics Flash Facts
239
Acyl
Genetics Flash Facts
240
Q0121:What is this molecule an activated carrier of?:
Lipoamide
Genetics Flash Facts
241
Acyl
Genetics Flash Facts
242
Q0122:What is this molecule an activated carrier of?: Biotin
Genetics Flash Facts
243
CO2
Genetics Flash Facts
244
Q0123:What is this molecule an activated carrier of?:
Tetrahydrofolate
Genetics Flash Facts
245
1-carbon units
Genetics Flash Facts
246
Q0124:What is this molecule an activated carrier of?: S-
adenosyl-methionine
Genetics Flash Facts
247
Methyl groups
Genetics Flash Facts
248
Q0125:What is this molecule an activated carrier of?:
Thiamine Pyrophosphate
Genetics Flash Facts
249
Aldehydes
Genetics Flash Facts
250
Q0126:What activated carriers carry: Phosphoryl
Genetics Flash Facts
251
ATP and GTP
Genetics Flash Facts
252
Q0127:What activated carriers carry: Electrons
Genetics Flash Facts
253
1. NADH;2. NADPH;3. FADH2
Genetics Flash Facts
254
Q0128:What activated carriers carry: Acyl
Genetics Flash Facts
255
1. Coenzyme A;2. Lipoamide
Genetics Flash Facts
256
Q0129:What activated carriers carry: CO2
Genetics Flash Facts
257
Biotin
Genetics Flash Facts
258
Q0130:What activated carriers carry: 1-carbon units
Genetics Flash Facts
259
1. Tetrahydrofolates (originally as formyl then methyl);2.
Biotin (as CO2);3. S-adenosyl-methionine (as CH3)
Genetics Flash Facts
260
Q0131:What activated carriers carry: CH3 groups
Genetics Flash Facts
261
1. S-adenosyl-methionine;2. N5-methyl-THF
Genetics Flash Facts
262
Q0132:What activated carriers carry: Formyl groups
Genetics Flash Facts
263
N10-formyl-THF
Genetics Flash Facts
264
Q0133:What activated carriers carry: Aldehydes
Genetics Flash Facts
265
Thiamine Pyrophosphate
Genetics Flash Facts
266
Q0134:ATP and methionine react to form what?
Genetics Flash Facts
267
S-adenosyl-methionine
Genetics Flash Facts
268
Q0135:What reacts to yield S-adenosyl-methionine?
Genetics Flash Facts
269
ATP and methionine
Genetics Flash Facts
270
Q0136:What vitamin is necessary for regeneration of S-
adenosyl-methionine?
Genetics Flash Facts
271
Vitamin B12
Genetics Flash Facts
272
Q0137:When is NAD used?
Genetics Flash Facts
273
Catabolic processes to carry reducing equivalents away as
NADH
Genetics Flash Facts
274
Q0138:When is NADPH used?
Genetics Flash Facts
275
1. Anabolic process (steroid and fatty acid synthesis);2.
Respiratory burst;3. P-450
Genetics Flash Facts
276
Q0139:Where does NADPH come from?
Genetics Flash Facts
277
HMP shunt
Genetics Flash Facts
278
Q0140:What disease results from NADPH oxidase
deficiency?
Genetics Flash Facts
279
Chronic Granulomatous Disease
Genetics Flash Facts
280
Q0141:This enzyme phosphorylates glucose with high
affinity.
Genetics Flash Facts
281
Hexokinase (as opposed to glucokinase)
Genetics Flash Facts
282
Q0142:This enzyme phosphorylates glucose with low
affinity.
Genetics Flash Facts
283
Glucokinase (as opposed to hexokinase)
Genetics Flash Facts
284
Q0143:This enzyme phosphorylates glucose with a low
capacity.
Genetics Flash Facts
285
Hexokinase (as opposed to glucokinase)
Genetics Flash Facts
286
Q0144:This enzyme phosphorylates glucose and is feedback
inhibited by Glucose-6-Phosphate.
Genetics Flash Facts
287
Hexokinase (as opposed to glucokinase)
Genetics Flash Facts
288
Q0145:This enzyme phosphorylates glucose with a high
capacity.
Genetics Flash Facts
289
Glucokinase (as opposed to hexokinase)
Genetics Flash Facts
290
Q0146:This enzyme phosphorylates glucose and is not
feedback inhibited.
Genetics Flash Facts
291
Glucokinase (as opposed to hexokinase)
Genetics Flash Facts
292
Q0147:Glucokinase: Where is it found and why does it do
what it does?
Genetics Flash Facts
293
Found in the liver and pancreatic beta cells. Phosphorylates
glucose to sequester it after a big meal.
Genetics Flash Facts
294
Q0148:Hexokinase: Where is it found and why does it do
what it does?
Genetics Flash Facts
295
Found in every cell's cytoplasm. Phosphorylates glucose to
proceed with glycolysis.
Genetics Flash Facts
296
Q0149:What are the net reactants and products in glycolysis.
Genetics Flash Facts
297
Reactants;1. Glucose;2. 2 Phosphates;3. 2 ADP;4. 2
NAD;Products;1. 2 Pyruvate;2. 2 ATP;3. 2 NADH;4. 2
H+;5. 2 H20
Genetics Flash Facts
298
Q0150:What are the rate limiting steps of glycolysis?
Genetics Flash Facts
299
1. Hexokinase (Glucose to Glucose-6-P);2.
*Phosphofructokinase-1 (Fructose-6-P to Fructose-1;6-
BP);3. Pyruvate kinase (Phosphoenolpyruvate to Pyruvate)
Genetics Flash Facts
300
Q0151:Phosphofructokinase-1: What does it do; and what
stimulates and inhibits it?
Genetics Flash Facts
301
PFK-1 1-phosphorylates fructose-6-phosphate to produce
Fructose-1;6-Bisphosphate;Inhibited by;1. ATP (don't need
more of me);2. Citrate (my cycle is going well);Stimulated
by;1. AMP (Hey; we need more ATP);2. Fructose-2;6-BP
(The fact that I'm being made means there's tons of glucose.)
Genetics Flash Facts
302
Q0152:Pyruvate kinase: What does it do; and what stimulates
and inhibits it?
Genetics Flash Facts
303
Pyruvate kinase converts phosphoenolpyruvate to pyruvate;
thereby producing two ATP;Inhibited by;1. ATP (don't need
more of me);2. Alanine (I came from pyruvate; so we don't
need any more.);Stimulated by;1. Fructose-1;6-BP (I was told
we needed more ATP; so here I am; so you better move the
line along.)
Genetics Flash Facts
304
Q0153:Pyruvate dehydrogenase: What does it do; and what
stimulates and inhibits it?
Genetics Flash Facts
305
Pyruvate dehydrogenase converts pyruvate to acetyl-coA;
and produces NADH and CO2;Stimulated by: excess
pyruvate?;Inhibited by;1. NADH (Listen; seriously; we don't
need anymore of me.);2. NADH (You produce NADH; soon
there'll be more of me.);3. Acetyl-CoA (Enough of me; save
your pyrvuate.)
Genetics Flash Facts
306
Q0154:What disease state is glycolytic enzyme deficiency
generally associated with?
Genetics Flash Facts
307
Hemolytic anemia
Genetics Flash Facts
308
Q0155:What is the mechanism of hemolytic anemia in
someone with glycolytic enzyme deficiency?
Genetics Flash Facts
309
1. Lack of glycolysis leads to lack of ATP in RBCs;2. Lack of
ATP leads to inactivity of Na; K-ATPase pump;3. Lack of
the pump leads to sodium influx;4. Water follows sodium into
the cell;5. The cell swells and bursts.
Genetics Flash Facts
310
Q0156:What are the two most common glycolytic enzyme
deficiencies?
Genetics Flash Facts
311
Pyruvate kinase (95% of cases) followed by glucose
phosphate isomerase (4% of cases)
Genetics Flash Facts
312
Q0157:What are the 5 cofactors necessary for pyrvuate
dehydrogenase?
Genetics Flash Facts
313
Lipoic acid plus the first four B vitamins in their active
forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA
Genetics Flash Facts
314
Q0158:What are the 5 cofactors necessary for alpha-
ketoglutarate dehydrogenase?
Genetics Flash Facts
315
Lipoic acid plus the first four B vitamins in their active
forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA
Genetics Flash Facts
316
Q0159:What are the net reactants and products in the reaction
that Pyruvate Dehydrogenase catalyzes?
Genetics Flash Facts
317
Reactants;1. Pyruvate;2. CoA;3. NAD;Products;1. Acetyl
CoA;2. CO2;3. NADH
Genetics Flash Facts
318
Q0160:What activates and what inhibits pyruvate
dehydrogenase?
Genetics Flash Facts
319
Activated by exercise; which stimulates;1. Increased
NAD/NADH ratio (We need more NADH.);2. Increased
ADP (We need more ATP.);3. Ca2+ (More of me leads
muscles to contract; and I'm taken up by mitochondria where
I tell PDH that we need more ATP.);Inhibited by;1. NADH
(No more of me please);2. ATP (likewise);3. Acetyl CoA
(ditto)
Genetics Flash Facts
320
Q0161:Lipoamide or lipoate: Which carries aldehydes?
Genetics Flash Facts
321
Lipoamide
Genetics Flash Facts
322
Q0162:Lipoamide or lipoate: Which is a cofactor for pyruvate
dehydrogenase?
Genetics Flash Facts
323
Lipoate (Lipoic acid)
Genetics Flash Facts
324
Q0163:What toxin inhibits lipoic acid?
Genetics Flash Facts
325
Arsenic
Genetics Flash Facts
326
Q0164:What is the presentation of arsenic toxicity?
Genetics Flash Facts
327
1. Vomiting;2. Rice water stools;3. Garlic breath
Genetics Flash Facts
328
Q0165:Pyruvate dehydrogenase deficiency: Mechanism
Genetics Flash Facts
329
Backup of pyruvate and alanine leads to lactic acidosis.
Genetics Flash Facts
330
Q0166:Pyruvate dehydrogenase deficiency: Congenital or
Acquired
Genetics Flash Facts
331
Both. Acquired cases happen in cases of B1 deficiency (such
as in alcoholics.)
Genetics Flash Facts
332
Q0167:Pyruvate dehydrogenase deficiency: Presentation
Genetics Flash Facts
333
Lactic acidosis and neurologic defects
Genetics Flash Facts
334
Q0168:Pyruvate dehydrogenase deficiency: Treatment
Genetics Flash Facts
335
Increased intake of ketogenic nutrients (such as high fat
content or increased lysine and leucine)
Genetics Flash Facts
336
Q0169:What are the miscellaneous fates of pyruvate; and
what are the end products used for?
Genetics Flash Facts
337
1. Alanine: Carries amino groups to the liver from muscle;2.
Oxaloacetate: Replenishes TCA cycle or is used
gluconeogenesis;3. Acetyl-CoA: Used in TCA cycle;4.
Lactate: No good use
Genetics Flash Facts
338
Q0170:Which tissues and organs primarily convert pyruvate
into lactate?
Genetics Flash Facts
339
1. RBCs and WBCs;2. Lens and cornea;3. Renal medulla;4.
Testes
Genetics Flash Facts
340
Q0171:What enzymes and cofactors are used in conversion of
pyruvate to alanine?
Genetics Flash Facts
341
Enzyme: Alanine Transaminase (ALT);Cofactors: None
Genetics Flash Facts
342
Q0172:What enzymes and cofactors are used in conversion of
pyruvate to oxaloacetate?
Genetics Flash Facts
343
Enzyme: Pyruvate Carboxylase (contains biotin and
magnesium);Cofactors: CO2 and ATP
Genetics Flash Facts
344
Q0173:What are the reactants and products in the reaction
catalyzed by pyruvate carboxylase?
Genetics Flash Facts
345
Reactant;Pyruvate (with CO2 and
ATP);Product;Oxaloacetate
Genetics Flash Facts
346
Q0174:What are the reactants and products in the reaction
catalyzed by lactate dehydrogenase?
Genetics Flash Facts
347
This reaction is reversible; so the products can switch with
the reactants;Reactants;1. Pyruvate;2. NADH
(rehydrogenates in this direction);3. H+;Products;1. Lactate;2.
NAD
Genetics Flash Facts
348
Q0175:Where do the various pyruvate transformation
reactions happen?
Genetics Flash Facts
349
Cytosol;1. ALT (Alanine to/from pyruvate);2. LDH (Lactate
to/from pyruvate);Mitochondria;1. Pyruvate carboxylase
(pyruvate to oxaloacetate);2. Pyruvate dehydrogenase
(pyruvate to acetyl-coa)
Genetics Flash Facts
350
Q0176:Where does the Cori Cycle happen?
Genetics Flash Facts
351
In the liver and muscle/RBCs;Liver: Pyruvate converts to
glucose;Muscle/RBCs: Glucose converts to Pyruvate
Genetics Flash Facts
352
Q0177:What is the purpose of the Cori cycle?
Genetics Flash Facts
353
Transfers excess reducing equivalents from RBCs and the
muscle to liver so they can function anaerobically
Genetics Flash Facts
354
Q0178:What reaction does citrate synthase catalyze?
Genetics Flash Facts
355
Oxaloacetate and acetyl coA combine to yield citrate.
Genetics Flash Facts
356
Q0179:What is the order of the citric acid cycle beginning at
citrate?
Genetics Flash Facts
357
CAn I Keep Selling Sex For Money; Officer?;1. Citrate;2. cis-
Aconitate;3. Isocitrate;4. alpha-Ketoglutarate;5. Succinyl
CoA;6. Succinate;7. Fumarate;8. Malate;9. Oxaloacetate
Genetics Flash Facts
358
Q0180:What is the order of the citric acid cycle beginning at
cis-aconitate?
Genetics Flash Facts
359
1. cis-Aconitate;2. Isocitrate;3. alpha-ketoglutarate;4. succinyl
coA;5. succinate;6. fumarate;7. money;8. oxaloacetate;9.
citrate
Genetics Flash Facts
360
Q0181:What is the order of the citric acid cycle beginning at
isocitrate?
Genetics Flash Facts
361
1. isocitrate;2. alpha-ketoglutarate;3. succinyl coa;4.
succinate;5. fumarate;6. malate;7. oxaloacetate;8. citrate;9. cis-
aconitate
Genetics Flash Facts
362
Q0182:What is the order of the citric acid cycle beginning at
alpha-ketoglutarate?
Genetics Flash Facts
363
1. alpha-ketoglutarate;2. succinyl coA;3. succinate;4.
fumarate;5. malate;6. oxaloacetate;7. citrate;8. cis-aconitate;9.
isocitrate
Genetics Flash Facts
364
Q0183:What is the order of the citric acid cycle beginning at
succinyl coA?
Genetics Flash Facts
365
1. succinyl coA;2. succinate;3. fumarate;4. malate;5.
oxaloacetate;6. citrate;7. cis-aconitate;8. isocitrate;9. alpha-
ketoglutarate
Genetics Flash Facts
366
Q0184:What is the order of the citric acid cycle beginning at
succinate?
Genetics Flash Facts
367
Sex Feels Marvelous Over Cordelia And If Kruti Sucks-a-
Neil;1. Succinate;2. Fumarate;3. Malate;4. Oxaloacetate;5.
Citrate;6. cis-aconitate;7. Isocitrate;8. alpha-ketoglutarate;9.
succinyl coA
Genetics Flash Facts
368
Q0185:What is the order of the citric acid cycle beginning at
fumarate?
Genetics Flash Facts
369
1. fumarate;2. malate;3. oxaloacetate;4. citrate;5. cis-
aconitate;6. isocitrate;7. alpha-ketoglutarate;8. succinyl coA;9.
succinate
Genetics Flash Facts
370
Q0186:What is the order of the citric acid cycle beginning at
malate?
Genetics Flash Facts
371
1. malate;2. oxaloacetate;3. citrate;4. cis-aconitate;5.
isocitrate;6. alpha-ketoglutarate;7. succinyl coA;8.
succinate;9. fumarate
Genetics Flash Facts
372
Q0187:What is the order of the citric acid cycle beginning at
oxaloacetate?
Genetics Flash Facts
373
1. oxaloacetate;2. citrate;3. cis-aconitate;4. isocitrate;5. alpha-
ketoglutarate;6. succinyl coA;7. succinate;8. fumarate;9.
malate
Genetics Flash Facts
374
Q0188:What stimulates and inhibits citrate synthase?
Genetics Flash Facts
375
Stimulate: Nothing;Inhibit: ATP
Genetics Flash Facts
376
Q0189:What stimulates and inhibits isocitrate dehydrogenase?
Genetics Flash Facts
377
Stimulate: ADP;Inhibit;1. ATP;2. NADH
Genetics Flash Facts
378
Q0190:What stimulates and inhibits alpha-ketoglutarate
dehydrogenase?
Genetics Flash Facts
379
Stimulate: Nothing;Inhibit;1. ATP;2. NADH;3. Succinyl CoA
Genetics Flash Facts
380
Q0191:Which steps in the citric acid cycle produce CO2?
Genetics Flash Facts
381
The steps where carbons are lost; the two structures after
isocitrate each have one less carbon than the last;1. Isocitrate
to alpha-ketoglutarate;2. alpha-ketoglutarate to succinyl coA
Genetics Flash Facts
382
Q0192:Which steps in the citric acid cycle produce reducing
equivalents?
Genetics Flash Facts
383
The only step that produces FADH2 is the only one that also
yields an F product;1. Isocitrate to alpha ketoglutarate (1
NADH);2. alpha-ketoglutarate to succinyl coA (1 NADH);3.
Succinate to Fumarate (1 FADH2);4. Malate to Oxaloacetate
(1 NADH)
Genetics Flash Facts
384
Q0193:Which steps in the citric acid cycle produce ATP?
Genetics Flash Facts
385
None; however 1 GTP is produced from the conversion of
Succinyl CoA to Succinate.
Genetics Flash Facts
386
Q0194:How much ATP is produced by the citric acid cycle
per molecule of acetyl coA?
Genetics Flash Facts
387
12 ATP;3 NADH x 3 ATP/NADH= 9 ATP;1 FADH2 x 2
ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The
total is 12 ATP
Genetics Flash Facts
388
Q0195:How much ATP is produced by the citric acid cycle
per molecule of glucose?
Genetics Flash Facts
389
24;1 cycle;3 ATP/NADH= 9 ATP;1 FADH2 x 2
ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The
total is 12 ATP per acetyl coA. However; there are 2 acetyl
coA molecules produced per glucose molecule. Thus the total
is 24.
Genetics Flash Facts
390
Q0196:Name the complexes and important coenzymes and
cytochromes in the electron transport chain.
Genetics Flash Facts
391
1. Complex I;2. Coenzyme Q;3. Complex III;4. Cytochrome
C;5. Complex IV;6. Complex V
Genetics Flash Facts
392
Q0197:Where in the electron transport chain do NADH and
FADH2 release their electrons?
Genetics Flash Facts
393
Complex I
Genetics Flash Facts
394
Q0198:Where in the electron transport chain is O2 reduced to
2H2O?
Genetics Flash Facts
395
Complex IV
Genetics Flash Facts
396
Q0199:Where in the electron transport chain is ADP
converted to ATP?
Genetics Flash Facts
397
Complex V aka ATP synthase aka mitochondrial ATPase
Genetics Flash Facts
398
Q0200:Name three classes of oxidative phosphorylation
poisons.
Genetics Flash Facts
399
1. Electron transport inhibitors;2. ATPase inhibitors;3.
Uncoupling agents
Genetics Flash Facts
400
Q0201:What is the mechanism of electron transport
inhibitors?
Genetics Flash Facts
401
1. Directly inhibit electron transport causing;2. Decreased
protein gradient and decrease in O2 consumption; thereby;3.
Blocking ATP synthesis
Genetics Flash Facts
402
Q0202:What is the mechanism of ATPase inhibitors?
Genetics Flash Facts
403
1. Directly inhibit mitochondrial ATPase causing;2. Increased
protein gradient and increased oxygen consumption; but no
ATP is produced because electron transport stops.
Genetics Flash Facts
404
Q0203:What is the mechanism of uncoupling agents?
Genetics Flash Facts
405
"Uncouples" ATP synthesis from gradient production;1.
Increase permeability of membrane;2. Proton gradient
decreases; but oxygen consumption increases; as the gradient
is not being maintained;3. ATP synthesis stops; but electron
transport continues.
Genetics Flash Facts
406
Q0204:What is rotenone?
Genetics Flash Facts
407
An electron transport inhibitor.
Genetics Flash Facts
408
Q0205:What is the mechanism of CN?
Genetics Flash Facts
409
Electron transport inhibition
Genetics Flash Facts
410
Q0206:What is the mechanism of CO?
Genetics Flash Facts
411
Electron transport inhibition
Genetics Flash Facts
412
Q0207:What is antimycin A?
Genetics Flash Facts
413
An electron transport inhibitor.
Genetics Flash Facts
414
Q0208:What is the mechanism of oligomycin?
Genetics Flash Facts
415
ATPase inhibition
Genetics Flash Facts
416
Q0209:What is the mechanism of thermogenin?
Genetics Flash Facts
417
Uncoupling protein OR UCP which is an uncoupling agent
Genetics Flash Facts
418
Q0210:Where is thermogenin found?
Genetics Flash Facts
419
Brown adipose tissue
Genetics Flash Facts
420
Q0211:What is the mechanism of 2;4-dinitrophenol?
Genetics Flash Facts
421
Uncoupling agent
Genetics Flash Facts
422
Q0212:Name three uncoupling agents
Genetics Flash Facts
423
1. UCPs (such as Thermogenin);2. 2;4-dinitrophenol;3.
aspirin
Genetics Flash Facts
424
Q0213:Name the irreversible enzymes in gluconeogenesis; and
where they are found.
Genetics Flash Facts
425
Pathway Produces Fresh Glucose;All the enzymes are found
only in the liver; kidney; and intestinal epithelium;1. Pyruvate
carboxylase in the mitochondria;2. PEP carboxykinase in the
cytosol;3. Fructose-1;6-bisphosphatase in the cytosol;4.
Glucose-6-Phosphatase in the endoplasmic reticulum
Genetics Flash Facts
426
Q0214:Name the irreversible enzymes in glycolysis.
Genetics Flash Facts
427
1. Hexokinase;2. Phosphofructokinase-1;3. Pyruvate kinase;4.
Pyruvate dehydrogenase
Genetics Flash Facts
428
Q0215:What are the requirements of PEP carboxykinase?
Genetics Flash Facts
429
GTP
Genetics Flash Facts
430
Q0216:Where does the pentose phosphate pathway happen?
Genetics Flash Facts
431
Cytoplasm of Red Blood Cells; and in lactating mammary
glands; liver; and adrenal cortex (all sites of fatty acid or
steroid synthesis except RBCs)
Genetics Flash Facts
432
Q0217:How much ATP is used in the pentose phosphate
shunt?
Genetics Flash Facts
433
Genetics Flash Facts
434
Q0218:What are the main products of the pentose phosphate
shunt and their uses?
Genetics Flash Facts
435
1. NADPH (for fatty acid and steroid synthesis; glutathione
reduction; and cytochrome P-450);2. Ribose-5-phosphate (for
nucleotide synthesis);3. G3P and F6P (glycolytic
intermediates)
Genetics Flash Facts
436
Q0219:What are the key enzymes of the pentose phosphate
shunt and are the reactions reversible or irreversible?
Genetics Flash Facts
437
1. Glucose-6-phosphate dehydrogenase (irreversible);2.
Transketolase (reversible)
Genetics Flash Facts
438
Q0220:What does transketolase require?
Genetics Flash Facts
439
Thiamine (Vitamin B1)
Genetics Flash Facts
440
Q0221:What is the rate-limiting enzyme in the Pentose
phosphate pathway?
Genetics Flash Facts
441
Glucose-6-Phosphate Dehydrogenase
Genetics Flash Facts
442
Q0222:What is glutathione used for?
Genetics Flash Facts
443
Detoxification of free radicals and peroxides.
Genetics Flash Facts
444
Q0223:What does NADPH deficiency in RBCs result in?
Genetics Flash Facts
445
Hemolytic anemia
Genetics Flash Facts
446
Q0224:Name some oxidizing agents that someone with a
G6PD deficiency is vulnerable to.
Genetics Flash Facts
447
1. Fava beans;2. Sulfonamides;3. Primaquine;4.
Antituberculosis drugs
Genetics Flash Facts
448
Q0225:What protection does G6PD deficiency provide?
Genetics Flash Facts
449
Protection against malaria
Genetics Flash Facts
450
Q0226:Which group is more likely to have G6PD deficiency?
Genetics Flash Facts
451
Blacks
Genetics Flash Facts
452
Q0227:What are Heinz bodies?
Genetics Flash Facts
453
altered Hemoglobin precipitates within RBCs; found in G6PD
deficiency
Genetics Flash Facts
454
Q0228:What histologic change is seen in G6PD deficiency
Genetics Flash Facts
455
Heinz bodies within red blood cells
Genetics Flash Facts
456
Q0229:What is the etiology of fructose intolerance?
Genetics Flash Facts
457
1. Lack of aldolase B;2. Build up of Fructose-1-Phosphate;3.
Decrease in available phosphate;4. Inhibition of
glycogenolysis and gluconeogenesis
Genetics Flash Facts
458
Q0230:What is the clinical presentation of fructose
intolerance?
Genetics Flash Facts
459
hypoglycemia; jaundice; cirrhosis; and vomiting
Genetics Flash Facts
460
Q0231:What is the difference in presentation between von
Gierke's disease and fructose intolerance?
Genetics Flash Facts
461
Both have hypoglycemia; jaundice; cirrhosis and vomiting;von
Gierke's disease also has lactic acidosis whereas fructose
intolerance does not.
Genetics Flash Facts
462
Q0232:What is the treatment for fructose intolerance?
Genetics Flash Facts
463
Decreased intake of both fructose and sucrose.
Genetics Flash Facts
464
Q0233:What is the etiology of essential fructosuria?
Genetics Flash Facts
465
Defect in fructokinase leading to lack of metabolism of
fructose. Benign and asymptomatic
Genetics Flash Facts
466
Q0234:What is the clinical presentation of essential
fructosuria?
Genetics Flash Facts
467
Fructose appears in the blood and urine
Genetics Flash Facts
468
Q0235:Which is more serious; essential fructosuria or fructose
intolerance?
Genetics Flash Facts
469
Fructose intolerance; because it depletes the cells of
phosphate.
Genetics Flash Facts
470
Q0236:What is the etiology of classic galactosemia?
Genetics Flash Facts
471
1. Absence of galactose-1-phosphate uridyl transferase;2.
Build up of toxic substances including galactitol
Genetics Flash Facts
472
Q0237:What is the presentation of classic galactosemia?
Genetics Flash Facts
473
Early;1. Galactosemia;2. Galactosuria;3. Vomiting;4.
Diarrhea;5. Jaundice;Late;1. Cataracts;2.
Hepatosplenomegaly;3. Mental retardation
Genetics Flash Facts
474
Q0238:How does galactokinase deficiency present?
Genetics Flash Facts
475
1. Galactosemia;2. Galactosuria;More severe symptoms such
as cataracts; hepatosplenomegaly and mental retardation can
follow.
Genetics Flash Facts
476
Q0239:What is the treatment for classic galactosemia?
Genetics Flash Facts
477
Exclude galactose and lactose from the diet.
Genetics Flash Facts
478
Q0240:What enzyme converts galactose to galactitol?
Genetics Flash Facts
479
Aldose reductase
Genetics Flash Facts
480
Q0241:What does aldose reductase do?
Genetics Flash Facts
481
Converts galactose to galactitol
Genetics Flash Facts
482
Q0242:What enzyme converts Galactose to galactose-1-
phosphate?
Genetics Flash Facts
483
Galactokinase
Genetics Flash Facts
484
Q0243:What enzyme converts Galactose-1-Phosphate to
Glucose-1-Phosphate?
Genetics Flash Facts
485
Uridyl transferase
Genetics Flash Facts
486
Q0244:What enzyme converts UDP-galactose to UDP-
glucose?
Genetics Flash Facts
487
4-epimerase
Genetics Flash Facts
488
Q0245:What does galactokinase do?
Genetics Flash Facts
489
converts Galactose to galactose-1-phosphate
Genetics Flash Facts
490
Q0246:What does 4-epimerase do?
Genetics Flash Facts
491
converts between UDP-galactose and UDP-glucose
Genetics Flash Facts
492
Q0247:What does Uridyl transferase do?
Genetics Flash Facts
493
1. converts UDP-glucose to UDP-galactose;2. converts
Galactose-1-Phosphate to Glucose-1-Phosphate
Genetics Flash Facts
494
Q0248:What enzyme converts UDP-glucose to UDP-
galactose?
Genetics Flash Facts
495
Uridyl transferase
Genetics Flash Facts
496
Q0249:Which groups are more likely to be lactose intolerant?
Genetics Flash Facts
497
1. Blacks;2. Asians
Genetics Flash Facts
498
Q0250:What is the etiology of lactose intolerance?
Genetics Flash Facts
499
Loss of brush-border lactase
Genetics Flash Facts
500
Q0251:How does lactose intolerance present?
Genetics Flash Facts
501
1. Bloating;2. Cramps;3. Osmotic diarrhea
Genetics Flash Facts
502
Q0252:What is the treatment for lactose intolerance?
Genetics Flash Facts
503
Avoid milk or add lactase pills to the diet
Genetics Flash Facts
504
Q0253:What are the essential amino acids?
Genetics Flash Facts
505
PVT TIM HALL;1. Phenylalanine;2. Valine;3. Threonine;4.
Tryptophan;5. Isoleucine;6. Methionine;7. Histidine;8.
Alanine;9. Leucine;10. Lysine
Genetics Flash Facts
506
Q0254:What are the conditionally essential amino acids; and
why are they conditionally essential?
Genetics Flash Facts
507
The condition is age. They are necessary early in life during
growth;Mnemonic: Babies CRY for Help;1. Cysteine;2.
aRginine;3. tYrosine;4. Histidine
Genetics Flash Facts
508
Q0255:Cysteine or Cystine: The amino acid
Genetics Flash Facts
509
Cysteine
Genetics Flash Facts
510
Q0256:Cysteine or Cystine: Two copies of the amino acid
joined by a disulfide bond
Genetics Flash Facts
511
Cystine
Genetics Flash Facts
512
Q0257:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Phenylalanine
Genetics Flash Facts
513
Essential;Both glucogenic and ketogenic
Genetics Flash Facts
514
Q0258:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Valine
Genetics Flash Facts
515
Essential;Glucogenic
Genetics Flash Facts
516
Q0259:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Tryptophan
Genetics Flash Facts
517
Essential;Both glucogenic and ketogenic
Genetics Flash Facts
518
Q0260:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Threonine
Genetics Flash Facts
519
Essential;Both glucogenic and ketogenic
Genetics Flash Facts
520
Q0261:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Isoleucine
Genetics Flash Facts
521
Essential;Both glucogenic and ketogenic
Genetics Flash Facts
522
Q0262:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Methionine
Genetics Flash Facts
523
Essential;Glucogenic
Genetics Flash Facts
524
Q0263:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Histidine
Genetics Flash Facts
525
Essential;Glucogenic
Genetics Flash Facts
526
Q0264:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Arginine
Genetics Flash Facts
527
Essential;Glucogenic
Genetics Flash Facts
528
Q0265:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Leucine
Genetics Flash Facts
529
Essential;Ketogenic
Genetics Flash Facts
530
Q0266:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Lysine
Genetics Flash Facts
531
Essential;Ketogenic
Genetics Flash Facts
532
Q0267:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Tyrosine
Genetics Flash Facts
533
Conditionally essential (during life and early
growth);(Phenylalanine and Tetrahydrobiopterin produce
tyrosine and dihydrobiopterin);Both glucogenic and ketogenic
Genetics Flash Facts
534
Q0268:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Glutamate
Genetics Flash Facts
535
Inessential (made from alpha-ketoglutarate);Glucogenic
Genetics Flash Facts
536
Q0269:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Aspartate
Genetics Flash Facts
537
Inessential (made from asparagine or oxaloacetate by aspartate
aminotransferase);Glucogenic
Genetics Flash Facts
538
Q0270:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Proline
Genetics Flash Facts
539
Inessential (Glutamate makes proline and
ornithine);Glucogenic
Genetics Flash Facts
540
Q0271:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Glycine
Genetics Flash Facts
541
Inessential (synthesized during reactions involving
tetrahydrofolate);Glucogenic
Genetics Flash Facts
542
Q0272:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Cysteine
Genetics Flash Facts
543
Conditionally essential (during life and early
growth);(Methionine begets S-adenosyl methionine which
begets intermediates which beget cysteine);Glucogenic
Genetics Flash Facts
544
Q0273:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Alanine
Genetics Flash Facts
545
Inessential (made from pyruvate by alanine aminotransferase
in the Cori cycle);Glucogenic
Genetics Flash Facts
546
Q0274:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Serine
Genetics Flash Facts
547
Inessential (made from a descendant of 3PG and with an
amine group from glutamate);Glucogenic
Genetics Flash Facts
548
Q0275:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Glutamine
Genetics Flash Facts
549
Inessential (made from glutamate);Glucogenic
Genetics Flash Facts
550
Q0276:Is the following amino acid essential or inessential; and
is it glucogenic; ketogenic; or both?: Asparagine
Genetics Flash Facts
551
Inessential (made from aspartate);Glucogenic
Genetics Flash Facts
552
Q0277:Which amino acids are acidic?
Genetics Flash Facts
553
Aspartate and glutamate are negatively charged at body pH
Genetics Flash Facts
554
Q0278:Which amino acids are basic?
Genetics Flash Facts
555
Arginine; Lysine and Histidine;Arginine and Lysine are
increased in histones which bind negatively charged
DNA;Histidine has no charge at body pH.
Genetics Flash Facts
556
Q0279:Zinc deficiency: Presentation
Genetics Flash Facts
557
"Delayed wound healing; hypogonadism; and decreased adult
hair (axillary; facial; pubic)"
Genetics Flash Facts
558
Q0280:Zinc deficiency: Predisposes to what?
Genetics Flash Facts
559
Alcoholic cirrhosis
Genetics Flash Facts
560
Q0281:Ethanol metabolism: All steps with enzymes and
cofactors
Genetics Flash Facts
561
"Step 1: Ethanol is oxidized by NAD (forming NADH) to
acetaldehyde using alcohol dehydrogenase. Step 2:
Acetaldehyde is oxidized by NAD (forming NADH) to
acetate using acetaldehyde dehydrogenase."
Genetics Flash Facts
562
Q0282:Ethanol metabolism: Limiting reagent
Genetics Flash Facts
563
NAD+
Genetics Flash Facts
564
Q0283:Ethanol metabolism: Order of kinetics of alcohol
dehydrogenase
Genetics Flash Facts
565
Zero-order kinetics
Genetics Flash Facts
566
Q0284:Disulfiram: Mechanism
Genetics Flash Facts
567
"Disulfiram inhibits acetaldehyde dehydrogenase; leading to
an accumulation of acetaldehyde; leading to increased
hangover symptoms."
Genetics Flash Facts
568
Q0285:Which drug inhibits acetaldehyde dehydrogenase?
Genetics Flash Facts
569
Disulfiram
Genetics Flash Facts
570
Q0286:Ethanol hypoglycemia: mechanism
Genetics Flash Facts
571
"1. Ethanol metabolism increases NADH/NAD ratio in the
liver. 2. Pyruvate and oxaloacetate are reduced by NADH
respectively to lactate and malate. 3. Decreased pyruvate and
oxaloacetate leads to decreased gluconeogenesis. 4. Decreased
gluconeogenesis leads to hypoglycemia."
Genetics Flash Facts
572
Q0287:What are the consequences of the altered
NADH/NAD ratio seen in alcoholics?
Genetics Flash Facts
573
"Short-term: Hypoglycemia; Long-term: Hepatic fatty
change"
Genetics Flash Facts
574
Q0288:What is the mechanism behind chronic fatty change in
alcoholics?
Genetics Flash Facts
575
"1. Ethanol metabolism leads to an increased NADH/NAD
ratio in the liver. 2. This ratio prefers fatty acid synthesis
over glycolysis."
Genetics Flash Facts
576
Q0289:Kwashiorkor: Clinical picture
Genetics Flash Facts
577
Small child with a swollen belly and depigmented hair.
Genetics Flash Facts
578
Q0290:Kwashiorkor: Clinical presentation
Genetics Flash Facts
579
"Kwashiorkor results from protein-deficient MEALS.
Malabsorbtion; Edema; Anemia; Liver (fatty change); Skin
lesions"
Genetics Flash Facts
580
Q0291:Protein malnutrition leads to what disease?
Genetics Flash Facts
581
Kwashiorkor (as opposed to Marasmus from energy
malnutrition)
Genetics Flash Facts
582
Q0292:Energy malnutrition leads to what disease?
Genetics Flash Facts
583
Marasmus (as opposed to Kwashiorkor from protein
malnutrition)
Genetics Flash Facts
584
Q0293:Marasmus: Clinical presentation
Genetics Flash Facts
585
"Tissue and muscle wasting; loss of subcutaneous fat; and
variable edema"
Genetics Flash Facts
586
Q0294:"Chromatin structure: In the beads on a string analogy;
what are the beads?"
Genetics Flash Facts
587
"Start with a nucleosome core made up of an 8 histone cube
(two each of positively-charged histones H2A; H2B; H3; and
H4). Negatively charged DNA loops twice around
nucleosome core."
Genetics Flash Facts
588
Q0295:"Chromatin structure: In the beads on a string analogy;
what is the string and how long is it?"
Genetics Flash Facts
589
Histone H1 ties the nucleosomes together in a 30-nm fiber
string
Genetics Flash Facts
590
Q0296:Chromatin structure: What histones are included and
which of these are not in the nucleosome core?
Genetics Flash Facts
591
"H1 (only one not in the core); H2A; H2B; H3; and H4"
Genetics Flash Facts
592
Q0297:Heterochromatin or Euchromatin: Which is more
condensed?
Genetics Flash Facts
593
Heterochromatin. Euchromatin is less condensed.
Genetics Flash Facts
594
Q0298:Heterochromatin or Euchromatin: Which is less
condensed?
Genetics Flash Facts
595
Euchromatin. Heterochromatin is more condensed.
Genetics Flash Facts
596
Q0299:Heterochromatin or Euchromatin: Which is
transcriptionally active?
Genetics Flash Facts
597
"Euchromatin (""eu"" means true; so think ""truly
transcribed"")"
Genetics Flash Facts
598
Q0300:Heterochromatin or Euchromatin: Which is
transcriptionally inactive?
Genetics Flash Facts
599
Heterochromatin
Genetics Flash Facts
600
Q0301:Name the purines.
Genetics Flash Facts
601
Adenine and Guanine
Genetics Flash Facts
602
Q0302:Name the pyrimidines.
Genetics Flash Facts
603
"Cytosine; Uracil; Thymine"
Genetics Flash Facts
604
Q0303:Which base pair bond has 3 Hydrogen bonds?
Genetics Flash Facts
605
Guanine to Cytosine
Genetics Flash Facts
606
Q0304:Which base pair bond has 2 Hydrogen bonds?
Genetics Flash Facts
607
Adenine to Thymine
Genetics Flash Facts
608
Q0305:How many Hydrogen bonds does the Guanine to
Cytosine pairing have?
Genetics Flash Facts
609
3
Genetics Flash Facts
610
Q0306:How many Hydrogen bonds does the Adenine to
Thymine pairing have?
Genetics Flash Facts
611
2
Genetics Flash Facts
612
Q0307:Which amino acids are necessary for purine synthesis?
Genetics Flash Facts
613
"Glycine; Aspartate; Glutamine"
Genetics Flash Facts
614
Q0308:"In nucleic acids; what kind of substitution is a
transition?"
Genetics Flash Facts
615
"TransItion = Identical type (Purine for purine or pyrimidine
for pyrimidine")
Genetics Flash Facts
616
Q0309:"In nucleic acids; what kind of substitution is a
transversion?"
Genetics Flash Facts
617
"TransVersion = conVersion between types (Purine for
pyrimidine or vice versa")
Genetics Flash Facts
618
Q0310:What does it mean for genetic code to be
unambiguous?
Genetics Flash Facts
619
Each codon specifies only one amino acid.
Genetics Flash Facts
620
Q0311:What does it mean for genetic code to be degenerate?
Genetics Flash Facts
621
More than one codon may code for the same amino acid.
Genetics Flash Facts
622
Q0312:What does it mean for genetic code to be redundant?
Genetics Flash Facts
623
More than one codon may code for the same amino acid.
Genetics Flash Facts
624
Q0313:Which amino acid is coded by only one codon?
Genetics Flash Facts
625
Methionine
Genetics Flash Facts
626
Q0314:"~ average pKa of carboxyl group on AA"
Genetics Flash Facts
627
2.3
Genetics Flash Facts
628
Q0315:"~ pKa of side chain of Aspartic Acid"
Genetics Flash Facts
629
"<4"
Genetics Flash Facts
630
Q0316:"~ pKa of side chain of Glutamic Acid"
Genetics Flash Facts
631
">4"
Genetics Flash Facts
632
Q0317:"~ pKa of side chain of Histidine"
Genetics Flash Facts
633
6
Genetics Flash Facts
634
Q0318:"~ pKa of side chain of Cysteine"
Genetics Flash Facts
635
8
Genetics Flash Facts
636
Q0319:"~ average pKa of amino group on AA"
Genetics Flash Facts
637
9.6
Genetics Flash Facts
638
Q0320:"~ pKa of side chain of Tyrosine"
Genetics Flash Facts
639
10
Genetics Flash Facts
640
Q0321:"~ pKa of side chain of Lysine"
Genetics Flash Facts
641
10.5
Genetics Flash Facts
642
Q0322:"~ pKa of side chain of Arginine"
Genetics Flash Facts
643
12.5
Genetics Flash Facts
644
Q0323:"An acid with a pKa of x serves as a buffer best at x +
what?"
Genetics Flash Facts
645
"positive or negative 1 (equal amounts of charged and
uncharged acid)"
Genetics Flash Facts
646
Q0324:"Trypsin cleaves peptides at which side of what
residues?"
Genetics Flash Facts
647
"C-terminal of lysine or arginine (the most basic amino acids)"
Genetics Flash Facts
648
Q0325:"Cyanogen bromide cleaves peptides at which side of
what residues?"
Genetics Flash Facts
649
"C-terminal of methionine"
Genetics Flash Facts
650
Q0326:"Pepsin cleaves peptides at which side of what
residues?"
Genetics Flash Facts
651
"C-terminal side of tyrosine; phenylalanine; and tryptophan
(all have phenyl groups; these are the same bonds as
chymotrypsin. Pepsin's action ceases when the NaHCO3
raises the pH of the intestinal contents)"
Genetics Flash Facts
652
Q0327:"Chymotrypsin cleaves peptides at which side of
what residues?"
Genetics Flash Facts
653
"C-terminal side of tyrosine; phenylalanine; and tryptophan
residues (all have phenyl groups; these are the same bonds as
pepsin; whose action ceases when the NaHCO3 raises the pH
of the intestinal contents)."
Genetics Flash Facts
654
Q0328:"# of aas in one turn of alpha-helix"
Genetics Flash Facts
655
3.6
Genetics Flash Facts
656
Q0329:"Amino acids that disrupt alpha-helix"
Genetics Flash Facts
657
"proline; many charged aas; bulky side chains"
Genetics Flash Facts
658
Q0330:"Which reagent sequentially removes N-terminal
residues from a polypeptide?"
Genetics Flash Facts
659
"Phenylisothiocyanate (Edman degradation)"
Genetics Flash Facts
660
Q0331:"Which reagent sequentially removes C-terminal
residues from a polypeptide?"
Genetics Flash Facts
661
"Carboxypeptidase"
Genetics Flash Facts
662
Q0332:"What kind of inheritance and mutation is the alpha-1-
antitrypsin deficiency?"
Genetics Flash Facts
663
"Autosomal recessive; single purine substitution (GAG to
AAG)"
Genetics Flash Facts
664
Q0333:"Anode: What does it attract?"
Genetics Flash Facts
665
"Anions"
Genetics Flash Facts
666
Q0334:"Anode: What does it contain?"
Genetics Flash Facts
667
"Cations"
Genetics Flash Facts
668
Q0335:"Cathode: What does it attract?"
Genetics Flash Facts
669
"Cations"
Genetics Flash Facts
670
Q0336:"Cathode: What does it contain?"
Genetics Flash Facts
671
"Anions"
Genetics Flash Facts
672
Q0337:"Inhibitors of electron transport from FMNH2 to
Coenzyme Q"
Genetics Flash Facts
673
"Amytal and Rotenone"
Genetics Flash Facts
674
Q0338:"Inhibitors of electron transport from Cytochrome b
to Cytochrome c"
Genetics Flash Facts
675
"Antimycin A"
Genetics Flash Facts
676
Q0339:"Inhibitors of electron transport from Cytochrome
a+a3 to Oxygen"
Genetics Flash Facts
677
"Cyanide; CO; and Sodium azide"
Genetics Flash Facts
678
Q0340:"Where do GLUT1 receptors predominate over other
GLUT receptors?"
Genetics Flash Facts
679
"RBCs"
Genetics Flash Facts
680
Q0341:"Where do GLUT4 receptors predominate over other
GLUT receptors?"
Genetics Flash Facts
681
"Adipose tissue and skeletal muscle"
Genetics Flash Facts
682
Q0342:"Which tissues have cotransport of glucose?"
Genetics Flash Facts
683
"Epithelial cells of the intestine; renal tubular cells; and
choroid plexus"
Genetics Flash Facts
684
Q0343:"Which tissues (7) need glucose as fuel?"
Genetics Flash Facts
685
"Brain; RBCs; Renal medulla; lens; cornea; testes; exercising
muscle"
Genetics Flash Facts
686
Q0344:"Where is pyruvate carboxylase found and not
found?"
Genetics Flash Facts
687
"Found in mitochondria of liver and kidney cells; not foudn in
mitochondria of muscle"
Genetics Flash Facts
688
Q0345:"Where is Fructose 1-6 bisphosphatase found?"
Genetics Flash Facts
689
"Liver and kidney"
Genetics Flash Facts
690
Q0346:"What is the Cori cycle?"
Genetics Flash Facts
691
"Lactate in muscle is shuttled to liver where it is turned into
glucose."
Genetics Flash Facts
692
Q0347:"How does glucagon stimulate gluconeogenesis?"
Genetics Flash Facts
693
"Regulation of F2;6-BP and inactivation of Pyruvate Kinase
via elevation of cAMP-dependent protein kinase A."
Genetics Flash Facts
694
Q0348:"This oxidation accounts for about two thirds of the
total oxygen consumption and ATP production in most
animals; including humans."
Genetics Flash Facts
695
"Oxidation of acetyl coA to CO2 and H2O."
Genetics Flash Facts
696
Q0349:"What inhibits pyruvate dehydrogenase?"
Genetics Flash Facts
697
"Acetyl CoA and NADH (no need for more of either). These
activate PD kinase (Phosphorylates enzyme with ATP;
which must be in abundance; so no more is needed)"
Genetics Flash Facts
698
Q0350:"What stimulates pyruvate dehydrogenase?"
Genetics Flash Facts
699
"ADP (need more ATP. Inhibits PD kinase and stimulates PD
phosphatase.)"
Genetics Flash Facts
700
Q0351:"Which is active?: Phosphorylated or
dephosphorylated pyruvate dehydrogenase"
Genetics Flash Facts
701
"Dephosphorylated."
Genetics Flash Facts
702
Q0352:"What inhibits citrate synthase?"
Genetics Flash Facts
703
"ATP and NADH (no need for more of either); Succinyl CoA
(""Slow down partner; the guys ahead of you are trying to do
their job!""); Acyl CoA fatty acid derivatives (Citrate
provides acetyl CoA to synthesize fatty acids and activates
acetyl CoA carboxylase; rate limiting enzyme of fatty acid
synthesis)."
Genetics Flash Facts
704
Q0353:"Where in glycolysis and TCA does CO2 come off?"
Genetics Flash Facts
705
"3 places: Pyruvate to Acetyl CoA; Isocitrate to alpha-
ketoglutarate; and alpha-ketoglutarate to Succinyl CoA"
Genetics Flash Facts
706
Q0354:"What is the rate-limiting step of the TCA?"
Genetics Flash Facts
707
"Isocitrate to alpha-ketoglutarate by isocitrate
dehydrogenase"
Genetics Flash Facts
708
Q0355:"What activates isocitrate dehydrogenase?"
Genetics Flash Facts
709
"ADP"
Genetics Flash Facts
710
Q0356:"What inhibits isocitrate dehydrogenase?"
Genetics Flash Facts
711
"ATP and NADH"
Genetics Flash Facts
712
Q0357:"Sources of Succinyl CoA"
Genetics Flash Facts
713
"TCA intermediate; and from odd chained fatty acids; and
from propionyl coA from metabolism of branched-chain
amino acids."
Genetics Flash Facts
714
Q0358:"Uses of Succinyl CoA"
Genetics Flash Facts
715
"TCA intermediate; and biosynthesis of heme"
Genetics Flash Facts
716
Q0359:"Where in the TCA does NADH come from?"
Genetics Flash Facts
717
"Pyruvate to Acetyl CoA; Isocitrate to alpha-ketoglutarate;
alpha-ketoglutarate to succinyl coA; Malate to Oxaloacetate"
Genetics Flash Facts
718
Q0360:"Where in the TCA does FADH2 come from my
dear?"
Genetics Flash Facts
719
"Succinate to fumarate my sweet."
Genetics Flash Facts
720
Q0361:"Why is FAD used to oxidize succinate?"
Genetics Flash Facts
721
"Succinate is not powerful enough to reduce NAD."
Genetics Flash Facts
722
Q0362:"What are the important products of the HMP
pathway?"
Genetics Flash Facts
723
"2 NADPH; Ribose; and glyceraldehyde-3-Phosphate and
Fructose-6-phosphate"
Genetics Flash Facts
724
Q0363:"Which major metabolic reactions require Thiamine as
a cofactor?"
Genetics Flash Facts
725
"TCA: Pyruvate dehydrogenase and alpha-ketoglutarate
dehydrogenase; HMP shunt: Transketolase"
Genetics Flash Facts
726
Q0364:"What is NADPH used for?"
Genetics Flash Facts
727
"1. Reductive biosynthesis (eg fatty acids and steroids) 2.
Reduction of oxygen directly (myeloperoxidase system's
famed respiratory burst) and hydrogen peroxide indirectly
(through reduction of glutathione) 3. Cytochrome P-450
mono-oxygenase system"
Genetics Flash Facts
728
Q0365:"What is the famed respiratory burst?"
Genetics Flash Facts
729
"The rapid conversion of O2 to superoxide using NADPH."
Genetics Flash Facts
730
Q0366:"What disease process is due to a missing respiratory
burst?"
Genetics Flash Facts
731
"Chronic granulomatous disease"
Genetics Flash Facts
732
Q0367:"Where is the mutation for G6PD?"
Genetics Flash Facts
733
"Point mutation in coding region of the G6PD gene (X-
linked)"
Genetics Flash Facts
734
Q0368:"What is the relation of polyols to sugars?"
Genetics Flash Facts
735
"Polyols are monosaccharides where the carbonyl group is
reduced to an alcohol."
Genetics Flash Facts
736
Q0369:"What is a glycoside?"
Genetics Flash Facts
737
"Carbohydrate attached to non-carbohydrate structures."
Genetics Flash Facts
738
Q0370:"What is a reducing sugar?"
Genetics Flash Facts
739
"A monosaccharide where the anomeric carbon (Carbon 1) is
free."
Genetics Flash Facts
740
Q0371:"What is the result of lack of disaccharidase activity of
intestinal mucosa?"
Genetics Flash Facts
741
"Osmotically active disaccharides suck water out of mucosa
causing osmotic diarrhea."
Genetics Flash Facts
742
Q0372:"Where is fructokinase found?"
Genetics Flash Facts
743
"Liver (processes most dietary fructose); kidney; small
intestine"
Genetics Flash Facts
744
Q0373:"Why is fructose metabolism faster than glucose
metabolism?"
Genetics Flash Facts
745
"Bypasses PFK; major regulatory step of glycolysis."
Genetics Flash Facts
746
Q0374:"What enzyme is missing in hereditary fructose
intolerance?"
Genetics Flash Facts
747
"Aldolase B"
Genetics Flash Facts
748
Q0375:"What does aldose reductase do?"
Genetics Flash Facts
749
"Reduces glucose to sorbitol"
Genetics Flash Facts
750
Q0376:"Where is aldose reductase found?"
Genetics Flash Facts
751
"Lens; retina; Schwann cells; kidney; placenta; RBCs; and
gonads"
Genetics Flash Facts
752
Q0377:"What does sorbitol dehydrogenase do?"
Genetics Flash Facts
753
"Oxidizes sorbitol to fructose."
Genetics Flash Facts
754
Q0378:"Where is sorbitol dehydrogenase found?"
Genetics Flash Facts
755
"Liver and gonads (ovaries; seminal vesicles; sperm)"
Genetics Flash Facts
756
Q0379:"Mechanism of sorbitol toxicity"
Genetics Flash Facts
757
"Extra glucose freely enters cells containing aldose reductase
which converts it to sorbitol. Sorbitol may not pass through;
and low or absent sorbitol dehydrogenase prevents it from
being changed to fructose. Strong osmotic effects lead to
swelling and damage."
Genetics Flash Facts
758
Q0380:"Chondroitin Sulfate: Where found?/Distinguishing
characteristic from other GAGs"
Genetics Flash Facts
759
"Cartilage; tendons; ligaments; aorta. Most abundant GAG in
body."
Genetics Flash Facts
760
Q0381:"Chondroitin Sulfate: Use/Mechanism"
Genetics Flash Facts
761
"Form proteoglycan aggregates. Cartilage: Bind collagen and
hold fibers in a tight; strong network"
Genetics Flash Facts
762
Q0382:"Dermatan Sulfate: Where found?/Distinguishing
characteristic from other GAGs"
Genetics Flash Facts
763
"Found in skin; blood vessels; and heart valves"
Genetics Flash Facts
764
Q0383:"Dermatan Sulfate: Use/Mechanism"
Genetics Flash Facts
765
Genetics Flash Facts
766
Q0384:"Keratan Sulfate: Where found?/Distinguishing
characteristic from other GAGs"
Genetics Flash Facts
767
"Found in cartilage proteoglycan aggregates with chondroitin
sulfate; and in cornea. Most heterogeneous GAG."
Genetics Flash Facts
768
Q0385:"Keratan Sulfate: Use/Mechanism"
Genetics Flash Facts
769
Genetics Flash Facts
770
Q0386:"Heparin: Where found?/Distinguishing characteristic
from other GAGs"
Genetics Flash Facts
771
"Intracellular compound (unlike other GAGs). Found in mast
cells of artery walls; especially in lungs; liver; and skin"
Genetics Flash Facts
772
Q0387:"Heparin: Use/Mechanism"
Genetics Flash Facts
773
"Anticoagulant"
Genetics Flash Facts
774
Q0388:"Heparan Sulfate: Where found?/Distinguishing
characteristic from other GAGs"
Genetics Flash Facts
775
"Extracellular; unlike heparin. Found in basement membrane
and as a ubiquitous component of cell surfaces."
Genetics Flash Facts
776
Q0389:"Heparan Sulfate: Use/Mechanism"
Genetics Flash Facts
777
Genetics Flash Facts
778
Q0390:"Hyaluronic Acid: Where found?/Distinguishing
characteristic from other GAGs"
Genetics Flash Facts
779
"Found in synovial fluid of joints; vitreous humor f eye;
umbilical cord; and loose connective tissue. Unlike other
GAGs: Unsulfated; not covalently attached to protein; and
only GAG not limited to animal tissue; but also found in
bacteria."
Genetics Flash Facts
780
Q0391:"Hyaluronic Acid: Use/Mechanism"
Genetics Flash Facts
781
"Lubricant and shock absorber"
Genetics Flash Facts
782
Q0392:"Hunter's Syndrome vs Hurler's Syndrome: Enzyme
deficiency"
Genetics Flash Facts
783
"Hunter's: Iduronate sulfatase; Hurler's: alpha-L-iduronidase"
Genetics Flash Facts
784
Q0393:"Hunter's Syndrome vs Hurler's Syndrome: Corneal
clouding?"
Genetics Flash Facts
785
"Hunter's: No; Hurler's: Yes"
Genetics Flash Facts
786
Q0394:"Hunter's Syndrome vs Hurler's Syndrome: Mental
retardation?"
Genetics Flash Facts
787
"Both (Hunter's ranges from mild to severe)"
Genetics Flash Facts
788
Q0395:"Hunter's Syndrome vs Hurler's Syndrome: Physical
deformity?"
Genetics Flash Facts
789
"Hunter's: Mild to severe; Hurler's: Dwarfing; coarse facial
features; (gargoylism)"
Genetics Flash Facts
790
Q0396:"Hunter's Syndrome vs Hurler's Syndrome: Which
GAGs' degradation is affected?"
Genetics Flash Facts
791
"Both: Dermatan sulfate and Heparan sulfate"
Genetics Flash Facts
792
Q0397:"Hunter's Syndrome vs Hurler's Syndrome: Severity?"
Genetics Flash Facts
793
"Hunter's: Less Hurler's: More"
Genetics Flash Facts
794
Q0398:"Hunter's Syndrome vs Hurler's Syndrome:
Inheritance?"
Genetics Flash Facts
795
"Hunter's: X-linked Recessive; Hurler's (and all other
mucopolysaccharidoses): Autosomal recessive"
Genetics Flash Facts
796
Q0399:"Hunter's Syndrome vs Hurler's Syndrome: Aggressive
behavior?"
Genetics Flash Facts
797
"Hunter's: Yes; Hurler's: No"
Genetics Flash Facts
798
Q0400:"Mnemonic for Hurler's syndrome: HURLERS. What
does it stand for?"
Genetics Flash Facts
799
"H: Hepatosplenomegaly/Heparan and Dermatan sulfate;
U:Ugly facies; R: aRteries filled with GAGs; L: L-
iduronidase; E: Eyes clouded; early death; R:
Retardation/Respiratory obstruction; S: Short/stubby fingers"
Genetics Flash Facts
800
Q0401:"I-Cell disease: Pathophysiology"
Genetics Flash Facts
801
"Inability of cell to phosphorylate mannose residues on
glycoproteins indicating that they are lysosome bound."
Genetics Flash Facts
802
Q0402:"I-Cell disease: Presentation"
Genetics Flash Facts
803
"Skeletal abnormalities; restricted joint movement; coarse
facial features; severe psychomotor impairment; death by 8
years"
Genetics Flash Facts
804
Q0403:"Refsum Disease: Pathophysiology"
Genetics Flash Facts
805
"Inability to degrade phytanic acid; resulting in accumulation
in plasma and tissues"
Genetics Flash Facts
806
Q0404:What is PKU?
Genetics Flash Facts
807
think smelly; retarded babies
Genetics Flash Facts
808
Q0405:What's one reason that binging on booze is a bad idea
(aside from the ugly people you might sleep with;)?
Genetics Flash Facts
809
alcohol-> increased NADH -> decreased gluconeogenesis ->
acidosis -> huge ER bill
Genetics Flash Facts
810
Q0406:What is Kwashiorkor?
Genetics Flash Facts
811
think Starvin' Marvin
Genetics Flash Facts
812
Q0407:What's another reason for not being an alky (besides
the meetings)?
Genetics Flash Facts
813
pellegra- vitamin B3 deficit that gives you a rash; the shits;
and altered mental status (even when sober)
Genetics Flash Facts
814
Q0408:Why is my urine black and what the Hell are these
black dots on my eyes?!
Genetics Flash Facts
815
alkaptonuria
Genetics Flash Facts
816
Q0409:What is familial hypercholesterolemia?
Genetics Flash Facts
817
defective LDL receptors-> accelerated atherosclerosis &
xanthomas
Genetics Flash Facts
818
Q0410:Name the fat soluble vitamins; Fat Ass!
Genetics Flash Facts
819
think Eating Donuts Adds Kilocalories!
Genetics Flash Facts
820
Q0411:Why could a person be deficient in fat soluble
vitamins (esp considering that most of us have plenty of
space to store these buggers!)?
Genetics Flash Facts
821
think malabsorption- sprue; CF; too much of Mom's mineral
oil tx (a spoon a day keeps the enema away!)
Genetics Flash Facts
822
Q0412:What do B vitamin deficiencies result in (other than
pernicious anemia)?
Genetics Flash Facts
823
dermatitis; glossitis; shits
Genetics Flash Facts
824
Q0413:What is beriberi? Hint: It's not a Voodoo curse.
Genetics Flash Facts
825
vitamin B1 deficiency; spell it ber1ber1 (1=i); B1 is required
for TPP (generates pyruvate) & transketolase (HMP shunt)
Genetics Flash Facts
826
Q0414:What's the difference b/w wet & dry beriberi (other
than that not so fresh feeling)?
Genetics Flash Facts
827
dry= polyneuritis; muscle wasting;wet=dilated
cardiomyopathy; edema
Genetics Flash Facts
828
Q0415:What happens when you don't get your riboflavin
(B2) on?
Genetics Flash Facts
829
it's important to have ribo-"flava" (not just b/c the chicks dig
it) but FAD & FMN come from it; flava is not just a FAD
but a Functionally Mandatory Necessity! not having flava
causes angular stomatitis; cheliosis; & corneal vascularization
(chicks don't dig this)
Genetics Flash Facts
830
Q0416:What the Hell is Pantothenate? Is that the crap in
Pantene that will give my hair lusterous shine upon one
washing?
Genetics Flash Facts
831
it's B5. it helps make CoA & fatty acid synthase (no wonder
why i'm so damn sexy!); lack of B5 gives you dermatitis;
enteritis; alopecia & adrenal insufficiency. com'on girls; no
guy wants a flaky skinned; bald girlfriend who's adrenal glands
don't put out; so take your vitamins!
Genetics Flash Facts
832
Q0417:Was I absent the day we learned about pyridoxine
(B6) or do I merely have a B6 deficiency?
Genetics Flash Facts
833
I was probably in class the day they taught this but suffering
from convulsions/hyperirritablity due to my B6 deficiency
brought on by the stresses of med school. it turns out that B6
is needed for ALT; AST (transamination); decarboxylation; &
heme synthesis.
Genetics Flash Facts
834
Q0418:Why is B12 important (for the umpteenth thousand
time)?
Genetics Flash Facts
835
B12 (aka cobalamin)required for homocysteine methylation &
methylmalonyl-CoA handling; decreased homocysteine->
decreased methionine-> messed up myelin & increased
methylmalonyl-CoA-> increased methylmalonic acid->
messed up myelin; vegetarians eat your heart out (no really;
b/c its full of the B12 you'll need to thwart off macrocytic;
megaloblastic anemia); US causes are due to malabsorption (vs
dietary insufficiency); think sprue; Crohn's; pernicious
anemia; do a Schilling test
Genetics Flash Facts
836
Q0419:Why is folic acid so important? Does it justify all of
the public service announcements?!
Genetics Flash Facts
837
geeze; it's only important if you want to synthesize
DNA/RNA! why the concern??
Genetics Flash Facts
838
Q0420:What's biotin? Sounds like some tree hugging herbal
medicine crap!
Genetics Flash Facts
839
biotin is needed for carboxylating (eg oxaloacetate; malonyo-
CoA; methylmalonyl-CoA); deficits lead to dermatitis &
enteritis due to antibiotic use or ingesting raw eggs (Rocky
must have had some mad IBS!)
Genetics Flash Facts
840
Q0421:Why do we need vitamin D?
Genetics Flash Facts
841
b/c we don't want rickets! there is such thing as too much of a
good thing; though- too much vitamin D-> hypercalcemia;
stupor (think sarcoidosis)
Genetics Flash Facts
842
Q0422:Why does Mom always shove vitamin C down your
throat?
Genetics Flash Facts
843
no Mom wants a kid w/scurvy unless she's British. vitamin C
cross links collagen for healing; facilitates iron absorption; &
needed for dopamine synthesis (is this why the British are so
static?)
Genetics Flash Facts
844
Q0423:What does vitamin E do?
Genetics Flash Facts
845
protects RBCs
Genetics Flash Facts
846
Q0424:What does vitamin K do?
Genetics Flash Facts
847
K is for koagulation (spelling proficiency wasn't a requirement
for med school matriculation); intestinal coodies are required
for its synthesis (this is why babies & pts on broad spectrum
anti-biotics have increased PT & PTT; warfin is it's nemesis
(warfin is at war w/ vitamin K)
Genetics Flash Facts
848
Q0425:Who are vitamin K's dependents?
Genetics Flash Facts
849
after much investigation; the family court ruled that vitamin K
is responsible supporting its progenous clotting factors II;
VII; IX; X; & protein C (until age 18 whereby his progeny
will bleed to death)
Genetics Flash Facts
850
Q0426:What vitamin keeps your testicles plump and your
hair flowing? (Guys; take notes!)
Genetics Flash Facts
851
zinc; aside from small balls and baldness; lack of zinc will
cause delayed wound healing & predispose you to alcoholic
cirrhosis!
Genetics Flash Facts
852
Q0427:Explain ethanol metabolism (and don't say you're too
drunk to remember!)
Genetics Flash Facts
853
ethanol-> acetaldehyde-> acetate; requires alcohol
dehydrogenase; acetaldehyde dehydrogenase; NAD+; NADH;
NAD+ is limiting reagent
Genetics Flash Facts
854
Q0428:What gives you a hang-over? Hint: the answer isn't St.
Ides Malt Liquor (although this is justifiable).
Genetics Flash Facts
855
saturation of acetylaldehyde dehydrogenase; this is how
antabuse works
Genetics Flash Facts
856
Q0429:What is marasmus?
Genetics Flash Facts
857
tissue/muscle wasting due to energy malnutrition (compare
w/Kwashiorkor)
Genetics Flash Facts
858
Q0430:What is a nucleosome?
Genetics Flash Facts
859
it's the DNA AND core histones; the "beads" on the string
that; altogether; comprise what's called chromatin
Genetics Flash Facts
860
Q0431:What's so cool about H1 (histone 1)?
Genetics Flash Facts
861
it's the histone that ties all the nucleosomes together. H1 is a
rebel; not part of the core b/c it's too cool for the core.
Genetics Flash Facts
862
Q0432:What is heterochromatin? Hint: chromatin does not
have a sexual preference.
Genetics Flash Facts
863
this is the transcriptionally abstaining form of chromatin. it's
very uptight (looped around histones). it's not promiscuous
like that loose slut euchromatin.
Genetics Flash Facts
864
Q0433:Name the purines?
Genetics Flash Facts
865
think "pure As Gold"- A;G
Genetics Flash Facts
866
Q0434:What nucleotides bind to which?
Genetics Flash Facts
867
G-C (strongest); A-T
Genetics Flash Facts
868
Q0435:What goes into making a good purine?
Genetics Flash Facts
869
besides sugar and spice and everything nice; purines require
glycine; aspartate; and glutamine
Genetics Flash Facts
870
Q0436:What's this difference b/w a transition mistake & a
transversion mistake?
Genetics Flash Facts
871
transItion= Identical substitute;transVersion= conVersion b/w
types
Genetics Flash Facts
872
Q0437:Why will mother nature never receive a Pulitzer Prize?
Genetics Flash Facts
873
b/c her writing is redundant and lacks punctuation. in her
defense; her writing is also unambiguous & used universally
Genetics Flash Facts
874
Q0438:What's a silent mutation?
Genetics Flash Facts
875
it's more palatable than a missense or nonsense mutation.
think "it is better to remain silent & be thought a fool then to
speak & remove all doubt". silent mutations are often the
result of a tRNA wobble at the 3rd position (damn it tRNA;
switch to decaf!)
Genetics Flash Facts
876
Q0439:What is a missense mutation?
Genetics Flash Facts
877
it's replacing one aa with a similar aa. kind of like substituting
a democrat with a republican.
Genetics Flash Facts
878
Q0440:What is a nonsense mutation?
Genetics Flash Facts
879
think stop the nonsense
Genetics Flash Facts
880
Q0441:What is a frame shift mutation?
Genetics Flash Facts
881
this is really bad. its when your tRNA starts reading The
Oddessy but becomes impatient & settles for the Cliff Notes.
Genetics Flash Facts
882
Q0442:How are DNA topoisomerases & conditioner alike?
Genetics Flash Facts
883
they both remove those pesky tangles!
Genetics Flash Facts
884
Q0443:Why is DNA so codependent?
Genetics Flash Facts
885
DNA; like many of us; needs the motivation of another to
function. primase is the muse of DNA. she (or he) makes the
RNA primer on which DNA polymerase III can begin
replication.
Genetics Flash Facts
886
Q0444:Does DNA polymerase ever look back?
Genetics Flash Facts
887
it may seem that DNA polymerase has no regrets and
unaffectedly carries on in his 5'->3' direction. in truth; though;
he is very aware of his past mistakes & corrects them in the
3'->5' direction with exonucleases.
Genetics Flash Facts
888
Q0445:What does DNA polymerase I have against RNA
primer?
Genetics Flash Facts
889
she has always hated that tart; RNA primer. thus she uses her
exonucleases to degrade RNA primer at any given chance &
fills in the gaps w/DNA (she is much against
interrelationships b/w RNA & DNA (she's a deoxyribose
supremicist).
Genetics Flash Facts
890
Q0446:What keeps us from getting xeroderma pigmentosa?
Genetics Flash Facts
891
we have endonucleases that kick out messed up nucleotides.
Genetics Flash Facts
892
Q0447:Are all bases created equal?
Genetics Flash Facts
893
NO! we make a lot of messed up bases that glycolases remove
by cutting the base out at a pyramimidic site.
Genetics Flash Facts
894
Q0448:What happens when there're irreconsilable differences
b/w nucleotides?
Genetics Flash Facts
895
if counseling doesn't work; then your body may hire a
mismatch repair attorney. people w/hereditary nonpolyposis
colon cancer lack access to litigation.
Genetics Flash Facts
896
Q0449:What are the different kinds of RNA polymerases in
eukaryotes?
Genetics Flash Facts
897
I=rRNA;II=mRNA;III=tRNA
Genetics Flash Facts
898
Q0450:Which RNA polymerase helps DNA open up?
Genetics Flash Facts
899
II=mRNA poly. her nemesis is her mother-in-law alpha-
amantin (she thwarts all efforts of mRNA poly by serving her
death cap mushrooms at all family get togethers).
Genetics Flash Facts
900
Q0451:When does transcription begin?
Genetics Flash Facts
901
in AUG just like school. codes for methionine
Genetics Flash Facts
902
Q0452:When does transcription end (and don't say JUN)?
Genetics Flash Facts
903
think U Go Away; U Are Away; U Are Gone (geeze; mRNA
can take a hint!).
Genetics Flash Facts
904
Q0453:What is a promoter?
Genetics Flash Facts
905
well DNA likes to be recognized for its contributions too. it
takes a lot of work to make protein & this should be
rewarded. DNA doesn't care about money; having a trust fund
an all; DNA is rewarded for its efforts by being somewhat
relieved of duty by RNA poly & other transcription factors.
this only takes place after DNA has done most of the work &
has reached a TATA or CAAT box.
Genetics Flash Facts
906
Q0454:What is an enhancer?
Genetics Flash Facts
907
area of DNA that attracts transcription factors that enhance
gene expression.
Genetics Flash Facts
908
Q0455:What is an operator?
Genetics Flash Facts
909
area of DNA that attracts transcription factors that repress
gene expression.
Genetics Flash Facts
910
Q0456:What's the difference b/w an intron & exon?
Genetics Flash Facts
911
exons are what contribute to your growth while introns are
just interuptions along the way (kind of like your first
boyfriends); introns remain in the nucleus.
Genetics Flash Facts
912
Q0457:How does hnRNA become whole in spite of all of her
intron baggage?
Genetics Flash Facts
913
well differences are the "splice" of life; so hnRNA discovers
new meaning by redefining herself via new experiences. she
decides to move on w/the aide of her snRP friends; forming a
spliceosome alliance. They help her release her intron baggage;
thereby allowing her to persue healthy relationships w/exons.
happy w/the exons; hnRNA agrees to seal the deal by capping
& polyadenylation (huge commitment). she is now referred to
as mRNA (she's old fashioned & conceeded to the name
change).
Genetics Flash Facts
914
Q0458:What is Pellegra?
Genetics Flash Facts
915
think 3D: diarrhea; dermatitis; dementia; caused by niacin
(B3) def or a tryptophan def; B3 comes from tryptophan.
Genetics Flash Facts
916
Q0459:Name the Vitamin D forms.
Genetics Flash Facts
917
D2= ergocalciferol (drink milk); D3= cholecalciferol (get some
sun); 25-OH D3= storage; 1;25 (OH)2 D3= active form->
intestinal absorption of calcium & phosphate.
Genetics Flash Facts
918
Q0460:What is tRNA?
Genetics Flash Facts
919
transfer RNA is the pre-aminoacid. the amino acid is
covalently attached to its 3' end.
Genetics Flash Facts
920
Q0461:What does tRNA look like?
Genetics Flash Facts
921
cloverleaf shape; CCA at 3'end.
Genetics Flash Facts
922
Q0462:what is aminoacyl-tRNA synthetase?
Genetics Flash Facts
923
it's the enzyme that makes the amino acid; there's 1 for every
kind of amino acid; it is also a proof reader for its amino acid;
it requires ATP to make a peptide bond but will read the
transcript w/o it.
Genetics Flash Facts
924
Q0463:why does tRNA wobble?
Genetics Flash Facts
925
b/c it need only accurately read the first two nucleotides; then
it can just insert whatever (hopefully a nucleotide that codes
for the proper amino acid).
Genetics Flash Facts
926
Q0464:How is protein synthesis initiated?
Genetics Flash Facts
927
a 30S ribosome unit/initiator tRNA are hooked up w/the
assistance of initiation factors
Genetics Flash Facts
928
Q0465:what happens during elongation?
Genetics Flash Facts
929
1. aminoacyl tRNA binds to A site 2. peptidyltransferase
makes a peptide bond & transfers growing polypeptide chain
to A site 3. ribosome cruises 3 nucleotides toward 3' RNA
while moving peptidyl RNA to P site.
Genetics Flash Facts
930
Q0466:how is protein synthesis terminated?
Genetics Flash Facts
931
protein is released from ribosome.
Genetics Flash Facts
932
Q0467:what is the E site of the ribosome?
Genetics Flash Facts
933
where tRNA is held while exiting.
Genetics Flash Facts
934
Q0468:what is trimming?
Genetics Flash Facts
935
post-translational modification; removal of N or C terminal
from a zymogen.
Genetics Flash Facts
936
Q0469:what is a covalent modification?
Genetics Flash Facts
937
post-translational phosphor/glycos/hydroxylation.
Genetics Flash Facts
938
Q0470:what does ubiquitin do?
Genetics Flash Facts
939
it is the scarlet letter to be worn by defective proteins.
Genetics Flash Facts
940
Q0471:how are cell cycles regulated?
Genetics Flash Facts
941
by checkpoints that control the cell phases; regulators include
cyclins; cdks; & tumor suppressors.
Genetics Flash Facts
942
Q0472:what's included in mitosis?
Genetics Flash Facts
943
PMAT; this is the shortest phase.
Genetics Flash Facts
944
Q0473:what's included in interphase?
Genetics Flash Facts
945
G1; S ; G2
Genetics Flash Facts
946
Q0474:what's Go? Hint: it's not that lame movie.
Genetics Flash Facts
947
it's where permanent cells stay if you refrain from dropping
acid. neurons; skeletal mm; RBCs; cardiac mm.
Genetics Flash Facts
948
Q0475:what are stable cells?
Genetics Flash Facts
949
although they are compliant w/their Prosac tx; they are also
capable of entering G1 if stimulated; otherwise they'll stay in
G1; hepatocytes; lymphocytes
Genetics Flash Facts
950
Q0476:what are labile cells?
Genetics Flash Facts
951
they never Go; they are always movin' rapidly; though;
marrow; gut epithelium; hair
Genetics Flash Facts
952
Q0477:What takes place in the rough ER?
Genetics Flash Facts
953
synthesis of exported secretory proteins & N-linked
oligosaccharide addition (eg goblet cells & plasma cells are rich
w/rough ER).
Genetics Flash Facts
954
Q0478:What tkaes place in the smooth ER?
Genetics Flash Facts
955
site of steriod synthesis & detox.
Genetics Flash Facts
956
Q0479:What does the golgi do?
Genetics Flash Facts
957
processing & packaging of proteins & lipids from ER to
plasma membrane; modifies N-oligosaccharides on asparagine;
adds O-oligisaccharides to serine & threonine; adds mannose-
6-P; assembles & sulfates proteoglycans & tyrosine.
Genetics Flash Facts
958
Q0480:What is I-cell disease?
Genetics Flash Facts
959
when mannose-6-P addition by the golgi doesn't target
lysosome proteins to lysosome; coarse face; clouded corneas;
restricted jiont movement; high plasma lysosomal enzymes;
fatal in childhood.
Genetics Flash Facts
960
Q0481:What is COPI?
Genetics Flash Facts
961
vesicular trafficking protein; golgi -> ER (retrograde).
Genetics Flash Facts
962
Q0482:What is COPII?
Genetics Flash Facts
963
vesicular trafficking protein; RER -> cis-golgi (anterograde).
Genetics Flash Facts
964
Q0483:What is clathrin?
Genetics Flash Facts
965
vesicular trafficking protein; trans-golgi -> lysosomes; plasma
membrane -> endosomes.
Genetics Flash Facts
966
Q0484:What are microtubules?
Genetics Flash Facts
967
polymerized dimers of alpha/beta-tubulin; 2GTP
bound/dimer; part of flagella; cilia; & spindles.
Genetics Flash Facts
968
Q0485:Name 5 drugs that act on microtubules?
Genetics Flash Facts
969
mebendazole; taxol; griseofulvin; vincristine; colchicine.
Genetics Flash Facts
970
Q0486:What is Chediak-Higashi syndrome?
Genetics Flash Facts
971
microtubule polymerization defect.
Genetics Flash Facts
972
Q0487:What are cilia made of?
Genetics Flash Facts
973
microtubule doublets (9 +2)linked by dynein ATPase.
Genetics Flash Facts
974
Q0488:What is Kartagener's syndrome?
Genetics Flash Facts
975
defective dynein resulting in defective cilia.
Genetics Flash Facts
976
Q0489:What is the plasma membrane made of?
Genetics Flash Facts
977
cholesterol; phospholipids; sphingolipids; glycolipids;
proteins.
Genetics Flash Facts
978
Q0490:What is phosphatidylcholine(aka lecithin)?
Genetics Flash Facts
979
component of RBC membrane; myelin; bile; & surfactant;
esterfies cholesterol (eg LCAT).
Genetics Flash Facts
980
Q0491:Name 2 drugs that inhibit the sodium pump?
Genetics Flash Facts
981
ouabain binds K+ site; cardiac glycosides inhibit
Na+/K+ATPase.
Genetics Flash Facts
982
Q0492:Name the 4 types of collagen.
Genetics Flash Facts
983
type 1= bone; skin; tendon; cornea; type II= catilage; type III
= reticulin; type VI= basement membrane.
Genetics Flash Facts
984
Q0493:What cells make collagen?
Genetics Flash Facts
985
fibroblasts.
Genetics Flash Facts
986
Q0494:How is collagen made?
Genetics Flash Facts
987
preprocollagen synthesized in RER-> hydroxylation (req
Vitamin C)-> glycosylation in golgi & synthesis of
procollagen; exocytosis; proteolysis into tropocollagen;
crosslinking forms collagen fibrils.
Genetics Flash Facts
988
Q0495:What is Ehlers-Danlos syndrome?
Genetics Flash Facts
989
defective collagen synthesis; hyperextendible skin; bruising;
hypermobile joints; assoc w/berry aneurysms; inherited.
Genetics Flash Facts
990
Q0496:What is osteogenesis imperfecta?
Genetics Flash Facts
991
abnormal type I collagen synthesis; autosomal dominant;
fractures; blue sclerae; hearing loss; dental problems.
Genetics Flash Facts
992
Q0497:What is Marfan's syndrome?
Genetics Flash Facts
993
defective fibrillin.
Genetics Flash Facts
994
Q0498:What is elastin made of?
Genetics Flash Facts
995
non-hydroxylated proline & lysine; elastin= tropoelastin +
fibrillin scaffolding; elastase allows relaxed form; alpha1-
antitrypsin inhibits elastase.
Genetics Flash Facts
996
Q0499:What happens in the mitochondria?
Genetics Flash Facts
997
beta-oxidation; acetyl-CoA production; Kreb's cycle.
Genetics Flash Facts
998
Q0500:What happens in the cytoplasm?
Genetics Flash Facts
999
glycolysis; fatty acid synthesis; TTP shunt; protein synthesis
(RER); steroid synthesis (SER).
Genetics Flash Facts
1000
Q0501:What happens in both the mitochondria & the
cytoplasm?
Genetics Flash Facts
1001
gluconeogenesis (hepatocytes); urea cycle; heme
Genetics Flash Facts
1002
Q0502:What is S-adenosyl-methionine (aka SAM)?
Genetics Flash Facts
1003
ATP + methionine; transfers methyl units; relies on B12.
Genetics Flash Facts
1004
Q0503:What is NADPH?
Genetics Flash Facts
1005
electron acceptor used in anabolic processes (eg steroid
synthesis); respiratory burst; & P-450; comes from the TPP
shunt.
Genetics Flash Facts
1006
Q0504:What is chronic granulomatous disease?
Genetics Flash Facts
1007
deficit of NADPH oxidase (makes bleach out of O2);
neutrophils can't kill bugs
Genetics Flash Facts
1008
Q0505:What blood problem is commonly assoc. w/a
glycolytic enzyme deficiency?
Genetics Flash Facts
1009
hemolytic anemia b/c RBC's rely on glycolysis for energy.
Genetics Flash Facts
1010
Q0506:What is the pyruvate dehydrogenous complex?
Genetics Flash Facts
1011
the enzyme + vitamins B1;2;3;5; + lipoic acid; makes
pyruvate into acetyl-CoA; activated by excercise.
Genetics Flash Facts
1012
Q0507:What happens when you have a pyruvate
dehydrogenase deficiency?
Genetics Flash Facts
1013
lactic acidosis; neurologic defects; tx w/ketogenic nutrients.
Genetics Flash Facts
1014
Q0508:How many ATP does 1 NADH make per turn?
Genetics Flash Facts
1015
3
Genetics Flash Facts
1016
Q0509:How many ATP does 1 FADH2 make per turn?
Genetics Flash Facts
1017
2
Genetics Flash Facts
1018
Q0510:Name 8 ox-phos poisons.
Genetics Flash Facts
1019
rotenone; CN-; antimysin A; CO (e- transport inhibitors);
oligomycin (ATPase inhibitor); UCP; 2;4-DNP; aspirin
(uncouplers).
Genetics Flash Facts
1020
Q0511:What happens when you have a glucose-6-P
deficiency?
Genetics Flash Facts
1021
cannot generate G6PD that is required to reduce glutathionine
that detoxifies the free rads & peroxides; RBC's are especially
susceptible to oxidizing agents & will form hemoglobin
precipitates (Heinz bodies); Blacks; X-linked recessive.
Genetics Flash Facts
1022
Q0512:What happens when you have an aldolase B
deficiency?
Genetics Flash Facts
1023
recessive; fructose accumulation; inhibition of glycogenolysis
& gluconeogenesis; hypoglycemia; jaundice; cirrhosis;
vomiting.
Genetics Flash Facts
1024
Q0513:What is essential fructosuria?
Genetics Flash Facts
1025
deficient fructokinase; benign.
Genetics Flash Facts
1026
Q0514:What is galactosemia?
Genetics Flash Facts
1027
autosomal recessive; absence of galactose-1-P
uridyltransferase; accumulation of toxins (eg galactitol);
cataracts ; hepatosplenomegaly; mental retardation
Genetics Flash Facts
1028
Q0515:Name the essential aminoacids;Hint: PriVaTe TIM
HALL.
Genetics Flash Facts
1029
phe; val; thr; trp; ile; met; his; arg; leu; lys
Genetics Flash Facts
1030
Q0516:What is hyperammonemia?
Genetics Flash Facts
1031
can be acquired (eg liver damage) or hereditary (eg ornithine
transcarbamoylase def); excess NH4+ -> inhibition of Kreb's
cycle; tremor; slurring; vomiting; cerebral edema; blurred
vision; somnolence.
Genetics Flash Facts
1032
Q0517:Why do we need insulin?
Genetics Flash Facts
1033
allows entrance of glucose into adipose & muscle cells.
Genetics Flash Facts
1034
Q0518:What does insulin inhibit?
Genetics Flash Facts
1035
glucagon release by alpha pancreas cells.
Genetics Flash Facts
1036
Q0519:What does insulin do?
Genetics Flash Facts
1037
increases: glucose transport; glycogen synthesis/storage; TG
synthesis/storage;Na+ retention; protein synthesis (muscles).
Genetics Flash Facts
1038
Q0520:What cells don't require glucose? Hint: BRICK L
Genetics Flash Facts
1039
brain; RBCs; intestine; cornea; kidney; liver.
Genetics Flash Facts
1040
Q0521:What role does adrenaline (aka epinephrine) play in
glycogenensis & glycogenolysis?
Genetics Flash Facts
1041
glycogenesis = (-);glycogenolysis = (+)for both muscle & liver
glycogen stores.
Genetics Flash Facts
1042
Q0522:What's the difference in glycogen response for muscle
vs liver?
Genetics Flash Facts
1043
muscle metabolizes glucose fast; the liver acts to maintain
blood sugar levels.
Genetics Flash Facts
1044
Q0523:How do you synthesize fat?
Genetics Flash Facts
1045
acetyl-CoA (mitochondria)-> citrate shuttle (matrix)-> acetyl-
CoA + biotin (cytoplasm)-> malonyl CoA-> FA
Genetics Flash Facts
1046
Q0524:How do you burn fat?
Genetics Flash Facts
1047
FA + CoA-> acyl-CoA (cytoplasm)-> carnitine shuttle
(matrix)-> acyl-CoA which is beta-oxidized into acetyl-CoA
groups.
Genetics Flash Facts
1048
Q0525:What are ketone bodies?
Genetics Flash Facts
1049
FA + aminoacids in the liver -> acetoacetate + beta-
hydroxybutyrate. these products can be used in leiu of
glucose during fasting & diabetes for the brain & muscle;
fruity breath.
Genetics Flash Facts
1050
Q0526:How do you make cholesterol?
Genetics Flash Facts
1051
HMG-CoA reductase is the rate limiting step; converts
HMG-CoA to mevalonate; most cholesterol gets esterfied by
LCAT.
Genetics Flash Facts
1052
Q0527:What drug inhibits cholesterol synthesis?
Genetics Flash Facts
1053
lovestatin inhibits HMG-CoA reductase.
Genetics Flash Facts
1054
Q0528:What are the essential fatty acids?
Genetics Flash Facts
1055
linoeic & linolenic acid. eicosanoids rely on these babies!
Genetics Flash Facts
1056
Q0529:What does pancreatic lipase do?
Genetics Flash Facts
1057
degrades TG in small intestine.
Genetics Flash Facts
1058
Q0530:What does lipoprotein lipase do?
Genetics Flash Facts
1059
degrades TG in chylomicrons & VLDLs.
Genetics Flash Facts
1060
Q0531:What does hepatic TG lipase do?
Genetics Flash Facts
1061
degrades TG in IDL.
Genetics Flash Facts
1062
Q0532:What does hormone sensitive lipase do?
Genetics Flash Facts
1063
degrades TG in adipocytes.
Genetics Flash Facts
1064
Q0533:What does LCAT do?
Genetics Flash Facts
1065
esterfies cholesterol.
Genetics Flash Facts
1066
Q0534:What does CEPT do?
Genetics Flash Facts
1067
transfers cholesterol esters to other lipoproteins.
Genetics Flash Facts
1068
Q0535:What does A1 do?
Genetics Flash Facts
1069
activates LCAT.
Genetics Flash Facts
1070
Q0536:What does B-100 do?
Genetics Flash Facts
1071
binds to LDL receptor & mediates VLDL secretion.
Genetics Flash Facts
1072
Q0537:What does CII do?
Genetics Flash Facts
1073
it's a cofactor for lipoprotein lipase.
Genetics Flash Facts
1074
Q0538:What does B-48 do?
Genetics Flash Facts
1075
mediates chylomicron secretion.
Genetics Flash Facts
1076
Q0539:What does E do?
Genetics Flash Facts
1077
mediates extra remnant uptake.
Genetics Flash Facts
1078
Q0540:What are lipopriteins made of?
Genetics Flash Facts
1079
cholesterol; TG; phospholipids.
Genetics Flash Facts
1080
Q0541:What do chylomicrons do?
Genetics Flash Facts
1081
takes TG from intestine to peripheral tissues & cholesterol to
liver.
Genetics Flash Facts
1082
Q0542:Which lipoproteins do chylomicrons need?
Genetics Flash Facts
1083
B-48; A;C;E.
Genetics Flash Facts
1084
Q0543:What does VLDL do?
Genetics Flash Facts
1085
takes liver TGs to peripheral tissues.
Genetics Flash Facts
1086
Q0544:Which lipoproteins do VLDLs need?
Genetics Flash Facts
1087
B-100; C-II; E
Genetics Flash Facts
1088
Q0545:What does IDL do?
Genetics Flash Facts
1089
comes from VLDL degradation. takes TGs & cholesterol to
liver to process into LDL.
Genetics Flash Facts
1090
Q0546:What lipoproteins does IDL need?
Genetics Flash Facts
1091
B-100; E.
Genetics Flash Facts
1092
Q0547:What does LDL do?
Genetics Flash Facts
1093
takes liver cholesterol to peripheral tissues; formed from
VLDL via lipoprotein lipase in peripheral tissue.
Genetics Flash Facts
1094
Q0548:What lipoproteins does LDL need?
Genetics Flash Facts
1095
B-100.
Genetics Flash Facts
1096
Q0549:What does HDL do?
Genetics Flash Facts
1097
takes peripheral cholesterol to liver; also a storage for apoC &
apoE for chylomicron & VLDL metabolism; secreted by liver
& intestine.
Genetics Flash Facts
1098
Q0550:How is heme broken down?
Genetics Flash Facts
1099
heme-> biliverdin-> bilirubin -> liver -> bile.
Genetics Flash Facts
1100
Q0551:What is heme made of?
Genetics Flash Facts
1101
2 alpha + 2 beta polypetide subunits.
Genetics Flash Facts
1102
Q0552:Explain R vs T forms of heme.
Genetics Flash Facts
1103
T = low O2 affinity; R= high O2 affinity. T unloads!
Genetics Flash Facts
1104
Q0553:What favors T form over R form heme?
Genetics Flash Facts
1105
increased: Cl-; H+; CO2; 2;3-BPG; temperature favor O2
unloading; shifts curve right.
Genetics Flash Facts
1106
Q0554:What happens to CO2?
Genetics Flash Facts
1107
travels as bicarbonate in blood to lungs; binds to globin (not
heme); favors T form of heme.
Genetics Flash Facts
1108
Q0555:What is methemoglobin?
Genetics Flash Facts
1109
this is oxidized hemoglobin (Fe3+) that prefers CN- over O2;
push nitrates!
Genetics Flash Facts
1110
Q0556:What is carboxyhemoglobin?
Genetics Flash Facts
1111
hemoglobin has a fettish for CO.
Genetics Flash Facts
1112
Q0557:What are the four irreversible enzymes in glycolysis?
Genetics Flash Facts
1113
1. hexokinase/glucokinase;2. phosphofructokinase-1;3.
pyruvate kinase;4. pyruvate dehydrogenase
Genetics Flash Facts
1114
Q0558:What is the rate-limiting step in glycolysis?
Genetics Flash Facts
1115
Conversion of Fructose-6-phosphate into Fructose-1;6 BP via
phosphofructokinase 1
Genetics Flash Facts
1116
Q0559:What factor negatively inhibits hexokinase in
glycolysis?
Genetics Flash Facts
1117
Glucose-6-Phosphate
Genetics Flash Facts
1118
Q0560:What factors (2) negatively inhibit PFK-1 in
glycolysis?
Genetics Flash Facts
1119
1. ATP;2. citrate
Genetics Flash Facts
1120
Q0561:What factors (2) positivcely affect PFK-1 in
glycolysis?
Genetics Flash Facts
1121
1. AMP;2. fructose-2;6-BP
Genetics Flash Facts
1122
Q0562:What factors (2) NEGATIVELY inhibit pyruvate
kinase in glycolysis?
Genetics Flash Facts
1123
1. ATP;2. alanine
Genetics Flash Facts
1124
Q0563:What factor positively affects pyruvate kinase in
glycolysis?
Genetics Flash Facts
1125
fructose-1;6 BP
Genetics Flash Facts
1126
Q0564:What factors (3) negatively inhibit pyruvate
dehydrogenase in glycolysis?
Genetics Flash Facts
1127
1. ATP;2. NADH;3. acetyl-Coa
Genetics Flash Facts
1128
Q0565:What enzymes (2) CONVERT D-glucose into
Glucose-6-phosphate in glycolysis?
Genetics Flash Facts
1129
1. hexokinase;2. gLucokinase (liver only)
Genetics Flash Facts
1130
Q0566:What enzyme CONVERTS PEP into pyruvate?
Genetics Flash Facts
1131
pyruvate kinase
Genetics Flash Facts
1132
Q0567:What enzyme CONVERTS pyruvate into Acetyl-
CoA
Genetics Flash Facts
1133
pyruvate dehydrogenase
Genetics Flash Facts
1134
Q0568:What enzyme converts Fructose-6-P into Fructose-
1;6-BP?
Genetics Flash Facts
1135
Phosphofructokinase (rate-limiting step)
Genetics Flash Facts
1136
Q0569:What glycolytic enzyme deficiencies result in
hemolytic anemia? (7)
Genetics Flash Facts
1137
1. hexokinase;2. glucose phosphate isomerase;3. aldolase;4.
triosephosphate isomerase;5. phosphate glycerate kinase;6.
enolase;7. pyruvate kinase
Genetics Flash Facts
1138
Q0570:Do RBCs possess mitochondria?
Genetics Flash Facts
1139
no: metabolize glucose anaerobically and thus depend solely
on glycolysis
Genetics Flash Facts
1140
Q0571:Order of enzymes in a phagolysosome that destroy
bacteria in oxygen-dependent respiratory burst?
Genetics Flash Facts
1141
1. NADPH OXIDASE;2. SOD;3. MYELOPEROXIDASE
Genetics Flash Facts
1142
Q0572:What enzyme converts O2 into its free radical?
Genetics Flash Facts
1143
NADPH OXIDASE; using NADPH
Genetics Flash Facts
1144
Q0573:What enzyme converts an O2 free radical into H2O2?
Genetics Flash Facts
1145
SOD
Genetics Flash Facts
1146
Q0574:What enzyme converts H2O2 into HOCl free radical
Genetics Flash Facts
1147
myeloperoxidase; using a chloride anion
Genetics Flash Facts
1148
Q0575:What enzyme converts GSH into GSSG?
Genetics Flash Facts
1149
catalase; via oxidation using H2O2
Genetics Flash Facts
1150
Q0576:What enzyme converts NADPH into NADP+ using
GSSG?
Genetics Flash Facts
1151
glutathione reductase; resulting in GSH and NADP+
Genetics Flash Facts
1152
Q0577:What enzyme restores NADPH by converting G6P
into 6-phosphogluconolactone?
Genetics Flash Facts
1153
Glucose-6-phosphate dehydrogenase
Genetics Flash Facts
1154
Q0578:A deficiency in what enzyme can cause chronic
granulomatous disease?
Genetics Flash Facts
1155
NADPH OXIDASE DEFICIENCY --> CGD
Genetics Flash Facts
1156
Q0579:How many enzymes does the Pyruvate
Dehydrogenase Complex contain?
Genetics Flash Facts
1157
3 enzymes
Genetics Flash Facts
1158
Q0580:What are the 5 co-factors for the Pyruvate
Dehydrogenase Complex?
Genetics Flash Facts
1159
1. Pyrophosphate;2. FAD;3. NAD;4. CoA;5. Lipoic
acid;(First 4 B vitamins plus lipoic acid)
Genetics Flash Facts
1160
Q0581:From what is PyroPhosphate derived in the PDH
complex?
Genetics Flash Facts
1161
1. Vitamin B1 (thiamine);2. TPP
Genetics Flash Facts
1162
Q0582:From what is FAD derived in the PDH complex?
Genetics Flash Facts
1163
Vitamin B2 (riboflavin)
Genetics Flash Facts
1164
Q0583:From what is NAD derived in the PDH complex?
Genetics Flash Facts
1165
Vitamin B3 (niacin)
Genetics Flash Facts
1166
Q0584:From what is CoA derived in the PDH complex?
Genetics Flash Facts
1167
Vitamin B5 (pantothenate)
Genetics Flash Facts
1168
Q0585:What is the overall reaction in the PDH complex?
Genetics Flash Facts
1169
pyruvate + NAD+ + CoA --> acetyl-CoA + CO2 + NADH
Genetics Flash Facts
1170
Q0586:What three factors activate PDH during exercise?
Genetics Flash Facts
1171
1. increase in NAD+/NADH ratio;2. increase in ADP ratio;3.
increase in Ca2+
Genetics Flash Facts
1172
Q0587:PDH complex is similar to what other complex by
having the same cofactors; similar substrate; and similar
action?
Genetics Flash Facts
1173
PDH is similar to alpha-KG DH complex
Genetics Flash Facts
1174
Q0588:What enzyme deficiency cause cause lactic acidosis?
Genetics Flash Facts
1175
PDH complex deficiency from a backup of pyruvate and
alanine
Genetics Flash Facts
1176
Q0589:Alcoholism with a Vitamin B1 deficiency can also
cause what (besides Wernicke-Korsakoffe)?
Genetics Flash Facts
1177
PDH deficiency (B1 is a co-factor)
Genetics Flash Facts
1178
Q0590:What are the findings in PDH complex deficiency?
Genetics Flash Facts
1179
neurologic deficits
Genetics Flash Facts
1180
Q0591:What is the treatment for PDH complex deficiency?
Genetics Flash Facts
1181
1. increase intake of KETOGENIC nutrients (high fat
content);2. increase intake of LEUCINE and LYSINE
Genetics Flash Facts
1182
Q0592:What four items can pyruvate be converted into?
Genetics Flash Facts
1183
1. alanine;2. oxaloacetate;3. acetyl-Coa;4. lactate
Genetics Flash Facts
1184
Q0593:How can OAA be used after it is converted from
pyruvate?
Genetics Flash Facts
1185
1. replenish TCA cycle;2. gluconeogenesis
Genetics Flash Facts
1186
Q0594:What enzyme converts pyruvate into alanine?
Genetics Flash Facts
1187
ALT
Genetics Flash Facts
1188
Q0595:What enzyme converts pyruvate into OAA?
Genetics Flash Facts
1189
pyruvate carboxylase (using CO2 + ATP)
Genetics Flash Facts
1190
Q0596:What enzyme converts pyruvate into Acetyl-CoA?
Genetics Flash Facts
1191
PDH (using NAD+ and releasing CO2)
Genetics Flash Facts
1192
Q0597:What enzyme converts pyruvate into lactate in the
cytosol?
Genetics Flash Facts
1193
LDH (using NADH)
Genetics Flash Facts
1194
Q0598:What is the purpose of the Cori cycle?
Genetics Flash Facts
1195
Cori cycle transfers excess reducing equivalents from RBCs
and muscle --> liver; allowing muscle to function
anaerobically.
Genetics Flash Facts
1196
Q0599:In the TCA cycle; what are the products per one
acetyl CoA?
Genetics Flash Facts
1197
1. 3 NADH;2. 1 FADH2;3. 2 CO2;4. 1 GTP
Genetics Flash Facts
1198
Q0600:How many ATP are produced from a single acetyl-
Coa in the TCA cycle?
Genetics Flash Facts
1199
12 ATP/acetyl-Coa in the TCA cycle
Genetics Flash Facts
1200
Q0601:How many ATP are produced from a single glucose
molecule in the TCA cycle?
Genetics Flash Facts
1201
24 ATP
Genetics Flash Facts
1202
Q0602:In the TCA cycle; what are the products per one
glucose molecule?
Genetics Flash Facts
1203
1. 6 NADH;2. 2 FADH2;3. 4 CO2;4. 2 GTP
Genetics Flash Facts
1204
Q0603:What enzyme converts pyruvate into Acetyl-Coa?
Genetics Flash Facts
1205
PDH in glycolysis
Genetics Flash Facts
1206
Q0604:What three factors inhibit PDH?
Genetics Flash Facts
1207
1. ATP;2. Acetyl-Coa;3. NADH
Genetics Flash Facts
1208
Q0605:What factor inhibits Citrate synthase?
Genetics Flash Facts
1209
ATP
Genetics Flash Facts
1210
Q0606:wWhat enzyme converts Acetyl-CoA + OAA -->
citrate?
Genetics Flash Facts
1211
citrate synthase in the TCA cycle
Genetics Flash Facts
1212
Q0607:What enzyme converts Isocitrate into alpha-KG?
Genetics Flash Facts
1213
Isocitrate dehydrogenase
Genetics Flash Facts
1214
Q0608:What 2 factors negatively inhibit Isocitrate DH?
Genetics Flash Facts
1215
1. ATP;2. NADH
Genetics Flash Facts
1216
Q0609:What factor positively affects Isocitrate DH?
Genetics Flash Facts
1217
ADP
Genetics Flash Facts
1218
Q0610:What two molecules are released in the conversion of
Isocitrate into alpha-KG?
Genetics Flash Facts
1219
1. CO2;2. NADH
Genetics Flash Facts
1220
Q0611:what enzyme converts alpha-KG into Succinyl-CoA
Genetics Flash Facts
1221
alpha-KG DH
Genetics Flash Facts
1222
Q0612:What two molecules are released in the conversion of
alpha-KG into Succinyl CoA?
Genetics Flash Facts
1223
1. CO2;2. NADH
Genetics Flash Facts
1224
Q0613:What 3 factors negatively inhibit alpha-KG?
Genetics Flash Facts
1225
1. Succinyl-CoA;2. NADH;3. ATP
Genetics Flash Facts
1226
Q0614:What 2 molecules are released in the conversion of
Succinyl-CoA --> Succinate?
Genetics Flash Facts
1227
1. GTP;2. CoA
Genetics Flash Facts
1228
Q0615:What molecule is released in the conversion of
Succinate --> Fumarate?
Genetics Flash Facts
1229
FADH2
Genetics Flash Facts
1230
Q0616:What molecule is released in the conversion of malate
into OAA?
Genetics Flash Facts
1231
NADH
Genetics Flash Facts
1232
Q0617:1 NADH yields how many ATP?
Genetics Flash Facts
1233
3 ATP per 1 NADH
Genetics Flash Facts
1234
Q0618:1 FADH2 yields how many ATP?
Genetics Flash Facts
1235
2 ATP per 1 FADH2
Genetics Flash Facts
1236
Q0619:Name 4 electron transport inhibitors:
Genetics Flash Facts
1237
1. rotenone;2. antimycin A;3. CN-;4. CO
Genetics Flash Facts
1238
Q0620:What is the end result of electron transport inhibition?
Genetics Flash Facts
1239
1. decrease in proton gradient;2. block of ATP synthesis
Genetics Flash Facts
1240
Q0621:What is an example of a mitochondrial ATPase
inhibitor?
Genetics Flash Facts
1241
Oligomycin
Genetics Flash Facts
1242
Q0622:The enzymes for gluconeogenesis are located in what
organs only?
Genetics Flash Facts
1243
1. liver;2. kidney;3. intestinal epithelium
Genetics Flash Facts
1244
Q0623:Can muscle participate in gluconeogenesis?
Genetics Flash Facts
1245
NO
Genetics Flash Facts
1246
Q0624:The pentose phosphate pathway (HMP Shunt)
produces [;] from G6P for nucleotide synthesis
Genetics Flash Facts
1247
ribose-5-P
Genetics Flash Facts
1248
Q0625:The Pentose Phosphate Pathway (HMP Shunt)
produces [;] from [;] for FA and steroid biosynthesis and for
maintaining reduced glutathione inside RBCs.
Genetics Flash Facts
1249
NADPH from NADP+
Genetics Flash Facts
1250
Q0626:All rxns in the HMP Shunt ocur in the [;].
Genetics Flash Facts
1251
cytoplasm
Genetics Flash Facts
1252
Q0627:[;] ATP is used or produced in the HMP Shunt.
Genetics Flash Facts
1253
NO
Genetics Flash Facts
1254
Q0628:What are the organs involved in the HMP Shunt
(Pentose Phosphate Pathway)?
Genetics Flash Facts
1255
1. lactating mammary glands;2. liver;3. adrenal cortex;4. all
sites of FA or steroid synthesis
Genetics Flash Facts
1256
Q0629:[;] is the rate-limiting enzyme in the HMP shunt
Genetics Flash Facts
1257
G6PD
Genetics Flash Facts
1258
Q0630:Hemolytic anemia is caused by a decrease in [;] in
RBCs due to poor RBC defense against oxidizing agents.
Genetics Flash Facts
1259
NADPH
Genetics Flash Facts
1260
Q0631:What are the oxidizing agents involved in hemolytic
anemia due to a G6PD deficiency?
Genetics Flash Facts
1261
1. fava beans;2. sulfonamide;3. primaquine;4. Anti-TB drugs
Genetics Flash Facts
1262
Q0632:What are Heinz bodies?
Genetics Flash Facts
1263
altered H.emoglobin precipitates within RBCs
Genetics Flash Facts
1264
Q0633:What is the inheritance pattern of G6PDH deficiency?
Genetics Flash Facts
1265
X-linked recessive
Genetics Flash Facts
1266
Q0634:Glucose-6-Phosphate DH converts G6P and NADP+
into what?
Genetics Flash Facts
1267
1. 6-PG;2. NADPH
Genetics Flash Facts
1268
Q0635:Glutathion reductase converts NADPH and oxidized
GS-SG into what?
Genetics Flash Facts
1269
1. NADP+;2. 2 GSH (reduced)
Genetics Flash Facts
1270
Q0636:Hydrogen peroxide reacts with what to produc GS-SG
(oxidized) + 2 H2O?
Genetics Flash Facts
1271
2 GSH (reduced)
Genetics Flash Facts
1272
Q0637:What enzyme is associated with Essential fructosuria?
Genetics Flash Facts
1273
Fructokinase
Genetics Flash Facts
1274
Q0638:What enzyme is associated with Fructose intolerance?
Genetics Flash Facts
1275
Aldolase B
Genetics Flash Facts
1276
Q0639:What is the end result of Fructose intolerance?
Genetics Flash Facts
1277
1. Fructose-1-phosphate accumulates;2. DECREASE in
available phosphate;3. INHIBITION of
GLYCOGENOLYSIS and GLUCONEOGENSIS
Genetics Flash Facts
1278
Q0640:What are the symptoms of hereditary aldolase B
deficiency (Fructose intolerance)?
Genetics Flash Facts
1279
1. hypoglycemia;2. jaundice;3. cirrhosis;4. vomiting
Genetics Flash Facts
1280
Q0641:What is the treatment for Fructose intolerance?
Genetics Flash Facts
1281
1. DECREASE intake of fructose;2. DECREASE intake of
sucrose (glucose + FRUCTOSE)
Genetics Flash Facts
1282
Q0642:Aldolase B converts Fructose-1-P into what 2
products?
Genetics Flash Facts
1283
1. DHAP;2. glyceraldehyde
Genetics Flash Facts
1284
Q0643:What enzyme converts Glyceraldehyde into
Glyceraldehyde-3-P?
Genetics Flash Facts
1285
Triose kinase
Genetics Flash Facts
1286
Q0644:What enzyme converts Galactose-1-P to Glucose-1-P?
Genetics Flash Facts
1287
Galactose-1-phosphate uridyltransferase
Genetics Flash Facts
1288
Q0645:Galactosemia is caused by the absence of what
enzyme?
Genetics Flash Facts
1289
Galactose-1-phosphate uridyl transferase
Genetics Flash Facts
1290
Q0646:What are the symptoms of galactosemia?
Genetics Flash Facts
1291
1. cataracts;2. hepatosplenomegaly;3. mental retardation
Genetics Flash Facts
1292
Q0647:What is the treatment of galactolsemia?
Genetics Flash Facts
1293
1. EXCLUDE galactose;2. EXCLUDE LACTOSE (galactose
+ glucose) from diet
Genetics Flash Facts
1294
Q0648:What causes the symptoms of galactosemia?
Genetics Flash Facts
1295
accumulation of toxic substances (galactitol)
Genetics Flash Facts
1296
Q0649:What enzyme converts UDP-galactose back into
UDP-glucose?
Genetics Flash Facts
1297
4-epimerase
Genetics Flash Facts
1298
Q0650:What is the mnemonic for all essential amino acids?
Genetics Flash Facts
1299
P.riV.aT.e T.I.M. H.A.L.L.
Genetics Flash Facts
1300
Q0651:What are the glucogenic/ketogenic essential amino
acids?
Genetics Flash Facts
1301
1. P.henylalanine;2. I.le;3. T.ryptophan;"Gluco/ketogenic is
the P.I.T.s"
Genetics Flash Facts
1302
Q0652:What are the Glucogenic essential amino acids?
Genetics Flash Facts
1303
1. M.ethionine;2. T.hreonine;3. V.aline;4. A.rginine;5.
H.istidine;"MTV? AH!"
Genetics Flash Facts
1304
Q0653:What essential amino acids are required during growth?
Genetics Flash Facts
1305
1. Arginine;2. Histidine;both increase GH
Genetics Flash Facts
1306
Q0654:What basic amino acid has no net charge at body pH?
Genetics Flash Facts
1307
Histidine
Genetics Flash Facts
1308
Q0655:What is the most basic AA?
Genetics Flash Facts
1309
Arginine
Genetics Flash Facts
1310
Q0656:What 2 amino acids are found in histones?
Genetics Flash Facts
1311
1. Arginine;2. Lysine;(both have an extra NH3 group)
Genetics Flash Facts
1312
Q0657:What is formed in the conversion of glutamate -->
alpha-KG?
Genetics Flash Facts
1313
NADPH
Genetics Flash Facts
1314
Q0658:The Urea Cycle degrades [;] into amino groups.
Genetics Flash Facts
1315
amino acids
Genetics Flash Facts
1316
Q0659:What accounts for 90% of nitrogen in the urine?
Genetics Flash Facts
1317
Urea Cycle
Genetics Flash Facts
1318
Q0660:In what organ does the Urea Cycle occur?
Genetics Flash Facts
1319
liver
Genetics Flash Facts
1320
Q0661:In what organelle does carbamoyl phosphate
incorporation occur?
Genetics Flash Facts
1321
mitochondria
Genetics Flash Facts
1322
Q0662:Where do the remaining steps of the Urea Cycle occur;
besides the mitochondria?
Genetics Flash Facts
1323
cytosol
Genetics Flash Facts
1324
Q0663:What is released in the conversion of Arginine -->
Ornithine?
Genetics Flash Facts
1325
Urea
Genetics Flash Facts
1326
Q0664:Tryptophan is used to form what 3 things?
Genetics Flash Facts
1327
1. Niacin;2. Serotonin;3. Melatonin
Genetics Flash Facts
1328
Q0665:Glycine is used to form what?
Genetics Flash Facts
1329
glycine --> porphyrin --> heme
Genetics Flash Facts
1330
Q0666:Arginine is used to form what?
Genetics Flash Facts
1331
1. Creatine;2. Urea;3. Nitric oxide
Genetics Flash Facts
1332
Q0667:In PKU; what constituents(2) are deficient?
Genetics Flash Facts
1333
1. phenylalanine hydroxylase;2. tetrahydrobiopterin cofactor
Genetics Flash Facts
1334
Q0668:What are the findings (5) in PKU?
Genetics Flash Facts
1335
1. MR;2. growth retardation;3. fair skin;4. eczema;5. musty
body odor
Genetics Flash Facts
1336
Q0669:What is the R(x) for PKU?
Genetics Flash Facts
1337
1. DECREASE Phe;2. INCREASE Tyr in diet
Genetics Flash Facts
1338
Q0670:What are the 3 phenyllactones that accumulate in
PKU?
Genetics Flash Facts
1339
1. phenylacetate;2. phenyllactate;3. phenylpyruvate
Genetics Flash Facts
1340
Q0671:What is the incidence of PKU?
Genetics Flash Facts
1341
1/10;000
Genetics Flash Facts
1342
Q0672:What enzyme converts Phe --> Tyr?
Genetics Flash Facts
1343
Phenylalanine hydroxylase
Genetics Flash Facts
1344
Q0673:What enzyme converts DHB --> THB and restores
NADP+?
Genetics Flash Facts
1345
dihydropterin reductase
Genetics Flash Facts
1346
Q0674:What are the 2 possible causes of albinism?
Genetics Flash Facts
1347
1. deficiency of TYROSINASE (inability to synthesize
malanin from tyrosine);2. Defective tyrosine transporters
(DECREASE amounts of tyrosine and thus melanin)
Genetics Flash Facts
1348
Q0675:[;] can result from a lack of migration of neural crest
cells
Genetics Flash Facts
1349
Albinism
Genetics Flash Facts
1350
Q0676:Full-term neonate of uneventful delivery becomes
mentally retarded and hyperactive and has a musty odor.
What is the D(x)?
Genetics Flash Facts
1351
PKU
Genetics Flash Facts
1352
Q0677:Stressed executive comes home from work; consumes
7 or 8 martinis in rapid succession before dinner; and becomes
hypoglycemic. What is the mechanism?
Genetics Flash Facts
1353
NADH increase prevents gluconeogenesis by shunting
pyruvate and OAA to lactate and malate.
Genetics Flash Facts
1354
Q0678:2-year-old girl has an increase in abdominal girth;
failure to thrive; and skin and hair depigmentation. What is the
D(x)?
Genetics Flash Facts
1355
Kwashiorkor
Genetics Flash Facts
1356
Q0679:Alcoholic develops a rash; diarrhea; and altered mental
status. What is the vitamin deficiency?
Genetics Flash Facts
1357
Vitamin B3 (pellagra)
Genetics Flash Facts
1358
Q0680:51-year-old man has black spots in his sclera and has
noted that his urine turns black uon standing. What is the
D(x)?
Genetics Flash Facts
1359
Akaptonuria
Genetics Flash Facts
1360
Q0681:25-year-old male complains of severe chest pain and
has xanthomas of his Achilles tendon. What is the disease; and
where is the defect?
Genetics Flash Facts
1361
Familial hypercholesterolemia; LDL receptor.
Genetics Flash Facts
1362
Q0682:What is the definition of UNAMBIGUOUS when
describing the genetic code?
Genetics Flash Facts
1363
each codon specifies only 1 AA
Genetics Flash Facts
1364
Q0683:What is the definition of Degenerate when describing
the genetic code?
Genetics Flash Facts
1365
more than 1 codon may code for the same AA
Genetics Flash Facts
1366
Q0684:Why organism does NOT have a commaless;
nonoverlapping genetic code?
Genetics Flash Facts
1367
viruses
Genetics Flash Facts
1368
Q0685:What are the EXCEPTIONS to a universal genetic
code?
Genetics Flash Facts
1369
1. mitochondria;2. archaeobacteria;3. Mycoplasma;4. yeasts
(some)
Genetics Flash Facts
1370
Q0686:[;] makes an RNA primer on which DNA polymerase
III can initiate replication in PROKARYOTIC DNA
replication.
Genetics Flash Facts
1371
Primase
Genetics Flash Facts
1372
Q0687:[;] degrades the RNA primer in PROKARYOTIC
DNA replication.
Genetics Flash Facts
1373
DNA polymerase I
Genetics Flash Facts
1374
Q0688:DNA polymerase III has [;] synthesis and proofreads
with [;] exonuclease
Genetics Flash Facts
1375
5'--> 3' synthesis; 3' --> 5' exonuclease (DNA polymerase III
for PROKARYOTES)
Genetics Flash Facts
1376
Q0689:In PROKARYOTIC DNA replication; DNA
polymerase I excises the RNA primer with a [;] exonuclease
Genetics Flash Facts
1377
5' --> 3'
Genetics Flash Facts
1378
Q0690:Where does replication begin for Eurkaryotic DNA
polymerases?
Genetics Flash Facts
1379
consensus sequences of AT base pairs.
Genetics Flash Facts
1380
Q0691:What is the function of Eukaryotic DNA polymerase
alpha?
Genetics Flash Facts
1381
synthesize RNA PRIMERS
Genetics Flash Facts
1382
Q0692:What is the function of Eukaryotic DNA polymerase
beta?
Genetics Flash Facts
1383
LEADING-strand DNA
Genetics Flash Facts
1384
Q0693:What is the function of Eukaryotic DNA polymerase
gamma?
Genetics Flash Facts
1385
LAGGING-strand DNA
Genetics Flash Facts
1386
Q0694:What is the function of Eukaryotic DNA polymerase
delta?
Genetics Flash Facts
1387
MITOCHONDRIAL DNA
Genetics Flash Facts
1388
Q0695:What is the function of Eukaryotic DNA polymerase
epsilon?
Genetics Flash Facts
1389
DNA repair
Genetics Flash Facts
1390
Q0696:X-rays can damage DNA; and a repair defect can cause
what?
Genetics Flash Facts
1391
ataxia-telangiectasia
Genetics Flash Facts
1392
Q0697:Radiation can damage DNA; and a repair defect can
cause what?
Genetics Flash Facts
1393
Bloom's syndrome
Genetics Flash Facts
1394
Q0698:Cross-linking agents can damage DNA; and a repair
defect can cause what?
Genetics Flash Facts
1395
Fanconi's anemia
Genetics Flash Facts
1396
Q0699:DNA; RNA; and protein are all synthesized in what
direction?
Genetics Flash Facts
1397
5' --> 3'
Genetics Flash Facts
1398
Q0700:AA's are linked [;] to [;]
Genetics Flash Facts
1399
N --> C
Genetics Flash Facts
1400
Q0701:What are the types of RNA polymerases for
EUKARYOTES?
Genetics Flash Facts
1401
1. RNA POLYMERASE I;2. RNA POLYMERASE II;3.
RNA POLYMERASE III
Genetics Flash Facts
1402
Q0702:Do RNA polymerases have proofreading function?
Genetics Flash Facts
1403
NO
Genetics Flash Facts
1404
Q0703:Alpha-amantin inhibits which RNA polymerase?
Genetics Flash Facts
1405
RNA polymerase II
Genetics Flash Facts
1406
Q0704:Where does RNA polymerase II bind?
Genetics Flash Facts
1407
promotor site of DNA
Genetics Flash Facts
1408
Q0705:In Prokaryotes; does RNA polymerase make all 3
kinds of RNA?
Genetics Flash Facts
1409
yes
Genetics Flash Facts
1410
Q0706:What binds to a PROMOTOR site?
Genetics Flash Facts
1411
1. RNA polymerase;2. transcription factors;(UPSTREAM
FROM THE GENE)
Genetics Flash Facts
1412
Q0707:What binds to an ENHANCER site?
Genetics Flash Facts
1413
transcription factors
Genetics Flash Facts
1414
Q0708:What binds to an OPERATOR?
Genetics Flash Facts
1415
repressors (a repressive operator)
Genetics Flash Facts
1416
Q0709:Only [;] RNA is transported out of the nucleus
Genetics Flash Facts
1417
processed
Genetics Flash Facts
1418
Q0710:The [;] the Km; the higher the affinity.
Genetics Flash Facts
1419
lower
Genetics Flash Facts
1420
Q0711:The S phase of the cell cycle involves what?
Genetics Flash Facts
1421
Synthesis of DNA
Genetics Flash Facts
1422
Q0712:The G0 phase in the cell cycle is a quiescent [;] phase
Genetics Flash Facts
1423
G1 phase
Genetics Flash Facts
1424
Q0713:In the cell cycle; [;] is the shortest phase
Genetics Flash Facts
1425
mitosis
Genetics Flash Facts
1426
Q0714:Most cells are in what phase?
Genetics Flash Facts
1427
Go
Genetics Flash Facts
1428
Q0715:RER does what 2 things?f
Genetics Flash Facts
1429
1. synthesis of secretory (exported) proteins;2. N-linked
oligosaccharide addition to many proteins
Genetics Flash Facts
1430
Q0716:What are the major functions of the Golgi?
Genetics Flash Facts
1431
1. MODIFIES N-oligosaccharides on asparagiNe;2. ADDS O-
oligosaccharides to serine and threOnine;3. sulfation of sugars
on proteoglycans;4. sulfation of Tyrosine;5. ADDITION of
mannose-6-phosphate to lysosomal proteins; which targets
the protein to the lysosome.
Genetics Flash Facts
1432
Q0717:What are the symptoms of I-cell disease?
Genetics Flash Facts
1433
1. coarse facial features;2. restricted joint movement
Genetics Flash Facts
1434
Q0718:What are the 3 key features of microtubules?
Genetics Flash Facts
1435
1. helical;2. alpha + beta tubulin dimers (2 GTP bound
each);3. forms flagella; cilia; and mitotic spindles
Genetics Flash Facts
1436
Q0719:What are 5 drugs that act on microtubules?
Genetics Flash Facts
1437
1. Mebendazole/thiabendazole;2. Taxol;3. Griseofulvin;4.
Vincristine/vinblastine;5. Colchicine
Genetics Flash Facts
1438
Q0720:Chediak-Higashi syndrome is due to a microtubule
polymerization defect; resulting in a DECREASE in [;]
Genetics Flash Facts
1439
phagocytosis
Genetics Flash Facts
1440
Q0721:What are the 2 key features of Cilia?
Genetics Flash Facts
1441
1. 9 + 2 arrangment of microtubules (9 doublets);2. doublets
linked by Dynein; an ATPase
Genetics Flash Facts
1442
Q0722:Kartagener's syndrome is due to a dynein arm defect;
resulting in [;] cilia.
Genetics Flash Facts
1443
immotile cilia
Genetics Flash Facts
1444
Q0723:What 2 components in the plasma cell membrane can
INCREASE the melting temperature?
Genetics Flash Facts
1445
1. cholestrol;2. long saturated fatty acids
Genetics Flash Facts
1446
Q0724:Name 5 functions of Phosphatidylcholine:
Genetics Flash Facts
1447
1. RBCs;2. myelin;3. bile;4. surfactant (DiPalmitoyl
Phosphatidyl Choline);5. esterification of cholesterol (LCAT)
Genetics Flash Facts
1448
Q0725:Ouabain INHIBITS the Na+/K+ pump by binding to
what?
Genetics Flash Facts
1449
K+ site
Genetics Flash Facts
1450
Q0726:What is the most abundant protein in the human
body?
Genetics Flash Facts
1451
collagen
Genetics Flash Facts
1452
Q0727:What are the components of Type I collagen?
Genetics Flash Facts
1453
1. B.one;2. tendon;3. skin;4. dentin;5. fascia;6. cornea;7. late-
wound repair
Genetics Flash Facts
1454
Q0728:What are the components of Type II collagen?
Genetics Flash Facts
1455
1. C.artilage ("Type II: carTWOlage"); hyaline too;2. vitreous
body;3. nucleus pulposus
Genetics Flash Facts
1456
Q0729:What are the components of Type III collagen?
Genetics Flash Facts
1457
1. R.eticulin;2. skin;3. blood vessels;4. uterus;5. fetal tissue;6.
granulation tissue
Genetics Flash Facts
1458
Q0730:What are the components of Type IV collagen?
Genetics Flash Facts
1459
1. B.asement membrane;2. basal lamina "Type IV: under the
FLOOR (basement membrane)"
Genetics Flash Facts
1460
Q0731:What is the component of Type X collagen
Genetics Flash Facts
1461
epiphyseal plate
Genetics Flash Facts
1462
Q0732:What is the mnemonic for the first four collagen types
(I-IV)?
Genetics Flash Facts
1463
"B.e C.ool; R.ead B.ooks"
Genetics Flash Facts
1464
Q0733:What is the 1st step in collagen synthesis INSIDE
fibroblasts?
Genetics Flash Facts
1465
collagen alpha chains (PREPROCOLLAGEN) translated on
RER--usually Gly-X-Y polypeptide (X and Y are proline;
hydroxyproline; or hydroxylysine)
Genetics Flash Facts
1466
Q0734:What is the 2nd step in collagen synthesis INSIDE
fibroblasts?
Genetics Flash Facts
1467
ER--> hydroxylation of specific proline and lysine residues
(requires vitamin C)
Genetics Flash Facts
1468
Q0735:What is the 3rd step in collagen synthesis INSIDE
fibroblasts?
Genetics Flash Facts
1469
Golgi --> glycosylation of pro-alpha-chain lysine residues and
formation of PROCOLLAGEN(triple helix of 3 collagen alpha
chains)
Genetics Flash Facts
1470
Q0736:What is the 4th step in collagen synthesis INSIDE
fibroblasts?
Genetics Flash Facts
1471
PROCOLLAGEN molecules are exocytosed into the
extracellular space
Genetics Flash Facts
1472
Q0737:What is the 5th step in collagen synthesis OUTSIDE
fibroblasts?
Genetics Flash Facts
1473
PROCOLLAGEN peptidases cleave terminal regionals of
PROCOLLAGEN; transforming PROCOLLAGEN into
insoluble TROPOCOLLAGEN
Genetics Flash Facts
1474
Q0738:What is the 6th and last step in colagen synthesis
OUTSIDE fibroblasts?
Genetics Flash Facts
1475
staggered TROPOCOLLAGEN molecules are reinforced by
covalent lysine-hydroxylysine cross-linkage (by lysyl
oxidase) to make COLLAGEN FIBRILS
Genetics Flash Facts
1476
Q0739:What are the 8 major points concerning Ehlers-Danlos
syndrome?
Genetics Flash Facts
1477
1. faulty collagen synthesis;2. hyper-extensible skin;3. easy
bleeding/brusing;4. hypermobile joints;5. berry aneurysms;6.
type III collagen (reticulin: blood vessels; skin);7. mitral valve
prolapse;8. CAN'T make COLLAGEN FIBRILS from
TROPOCOLLAGEN!
Genetics Flash Facts
1478
Q0740:What are the 9 major points concerning
OSTEOGENESIS IMPERFECTA?
Genetics Flash Facts
1479
1. AUTOSOMAL DOMINANT (UNIQUE);2. faulty
collagen synthesis;3. brittle bone disease;4. translucency of
CT over choroid (blue sclerae);5. hearing loss: abnormal
middle ear bones;6. lack of dentition;7. Type II OI: fatal;8.
Indicence of OI: 1/10;000;9. CAN'T make PROCOLLAGEN
from PREPROCOLLAGEN
Genetics Flash Facts
1480
Q0741:What three metabolic processes occur in the
mitochondria?
Genetics Flash Facts
1481
1. B.eta-oxidation;2. A.cetyl-CoA production;3. K.rebs cycle
Genetics Flash Facts
1482
Q0742:What five metabolic processes occur in the
cytoplasm?
Genetics Flash Facts
1483
1. glycolysis;2. FA synthesis;3. protein synthesis;4. steroid
synthesis;5. HMP shunt
Genetics Flash Facts
1484
Q0743:What 2 metabolic processes occur in BOTH the
mitochondria and cytoplasm?
Genetics Flash Facts
1485
1. H.eme synthesis;2. U.rea cycle;3.
G.luconeogenesis;"H.U.G. both the mitochondria and
cytoplasm for their metabolism."
Genetics Flash Facts
1486
Q0744:A deficiency of what enzyme causes MILD
galactosemia?
Genetics Flash Facts
1487
Galactokinase
Genetics Flash Facts
1488
Q0745:A deficiency of what enzyme causes SEVERE
galactosemia?
Genetics Flash Facts
1489
Galactose-1-phosphate uridyltransferase
Genetics Flash Facts
1490
Q0746:Galactose-1-phosphate --> Glucose-1-phosphate by
what enzyme?
Genetics Flash Facts
1491
Galactose-1-phosphate uridyltransferase
Genetics Flash Facts
1492
Q0747:A deficiency of what enzyme causes Von Gierke's
disease?
Genetics Flash Facts
1493
Glucose-6-phosphatase
Genetics Flash Facts
1494
Q0748:Glucose-6-phosphate --> 6-phosphogluconolactone
by what enzyme?
Genetics Flash Facts
1495
Glucose-6-phosphate dehydrogenase (G6PD)
Genetics Flash Facts
1496
Q0749:Hemolytic anemia is caused by a deficiency of what
enzyme?
Genetics Flash Facts
1497
G6PD
Genetics Flash Facts
1498
Q0750:Ribulose-5-phosphate --> fructose-6-phosphate by
what enzyme?
Genetics Flash Facts
1499
transketolase
Genetics Flash Facts
1500
Q0751:A deficiency of what enzyme causes ESSENTIAL
fructosuria?
Genetics Flash Facts
1501
fructokinase
Genetics Flash Facts
1502
Q0752:A deficiency of what enzyme causes fructose
INTOLERANCE?
Genetics Flash Facts
1503
Aldolase B
Genetics Flash Facts
1504
Q0753:F1P --> DHAP + Glyceraldehyde. What enzyme?
Genetics Flash Facts
1505
aldolase B
Genetics Flash Facts
1506
Q0754:PEP --> pyruvate. What enzyme?
Genetics Flash Facts
1507
pyruvate kinase
Genetics Flash Facts
1508
Q0755:Pyruvate --> Acetyl-CoA. What enzyme?
Genetics Flash Facts
1509
pyruvate dehydrogenase
Genetics Flash Facts
1510
Q0756:Acetyl-CoA --> Malonyl-CoA. What cofactor?
Genetics Flash Facts
1511
biotin to tranfer CO2
Genetics Flash Facts
1512
Q0757:HMG CoA --> mevalonate. What enzyme?
Genetics Flash Facts
1513
HMG-CoA reductase
Genetics Flash Facts
1514
Q0758:pyruvate --> OAA. What enzyme?
Genetics Flash Facts
1515
pyruvate carboxylase
Genetics Flash Facts
1516
Q0759:OAA --> PEP. What enzyme?
Genetics Flash Facts
1517
PEP carboxykinase
Genetics Flash Facts
1518
Q0760:Acetyl-CoA + OAA --> citrate. What enzyme?
Genetics Flash Facts
1519
citrate synthase
Genetics Flash Facts
1520
Q0761:alpha-KG --> Succinyl-CoA. What enzyme?
Genetics Flash Facts
1521
alpha-ketoglutarate dehydrogenase
Genetics Flash Facts
1522
Q0762:Ornithine + Carbamoyl phosphate --> citrulline. What
enzyme?
Genetics Flash Facts
1523
ornithine transcarbamylase
Genetics Flash Facts
1524
Q0763:Aerobic metabolism of glucose --> 38 ATP via [;]
Genetics Flash Facts
1525
malate shuttle
Genetics Flash Facts
1526
Q0764:Aerobic metabolism of glucose --> 36 ATP via [;]
Genetics Flash Facts
1527
G3P shuttle
Genetics Flash Facts
1528
Q0765:What are 2 activated ACYL carriers?
Genetics Flash Facts
1529
1. coenzyme A;2. lipoamide
Genetics Flash Facts
1530
Q0766:What is an activated CO2 carrier?
Genetics Flash Facts
1531
biotin
Genetics Flash Facts
1532
Q0767:What is an activated 1-carbon unit carrier?
Genetics Flash Facts
1533
tetrahydrofolate
Genetics Flash Facts
1534
Q0768:What is an activated carrier of aldehydes?
Genetics Flash Facts
1535
TPP
Genetics Flash Facts
1536
Q0769:What is an activated carrier of choline?
Genetics Flash Facts
1537
CDP-choline
Genetics Flash Facts
1538
Q0770:ATP + methionine --> SAM. using what cofactor?
Genetics Flash Facts
1539
B12
Genetics Flash Facts
1540
Q0771:NADPH used in 3 processes:
Genetics Flash Facts
1541
1. anabolic processes;2. respiratory burst;3. p-450
Genetics Flash Facts
1542
Q0772:What enzymes involve NADPH in respiratory burst?
Genetics Flash Facts
1543
1. NADPH oxidase;2. glutathione reductase;3. Glucose-6-
Phosphate dehydrogenase
Genetics Flash Facts
1544
Q0773:Glucose -> G6P; an irreversible regulatory step in
glycolysis is catalyzed by which enyzme?
Genetics Flash Facts
1545
glucokinase/hexokinase
Genetics Flash Facts
1546
Q0774:Fructose 6-phosphate -> F1;6BP; an irreversible
regulatory step in glycolysis is catalyzed by which enyzme?
Genetics Flash Facts
1547
Phosphofructokinase (PFK)
Genetics Flash Facts
1548
Q0775:Phosphoenolpyruvate (PEP)->pyruvate; an
irreversible regulatory step in glycolysis is catalyzed by
which enyzme?
Genetics Flash Facts
1549
pyruvate kinase
Genetics Flash Facts
1550
Q0776:Acetyl CoA --> Citrate; an irreversible regulatory step
in the TCA cycle is catalyzed by which enyzme?
Genetics Flash Facts
1551
citrate synthase
Genetics Flash Facts
1552
Q0777:a-ketoglutarate -> succinate; an irreversible regulatory
step in the TCA cycle is catalyzed by which enyzme?
Genetics Flash Facts
1553
a-ketoglutarate dehydrogenase
Genetics Flash Facts
1554
Q0778:How many ATP are produced from one glucose
molecule in anaerobic glycolysis?
Genetics Flash Facts
1555
2 ATP produced
Genetics Flash Facts
1556
Q0779:How many ATP are produced from one glucose
molecule in aerobic metabolism?
Genetics Flash Facts
1557
38ATP from malate shuttle;36 ATP from Glucose 3
phosphate shuttle
Genetics Flash Facts
1558
Q0780:What is the product of the hexose monophospate
shunt (HMP)?
Genetics Flash Facts
1559
NADPH used in anabolic processes (steroid and fatty acid
synthesis) and ribose 5-phosphate for nucleotide synthesis
Genetics Flash Facts
1560
Q0781:What molecules are universal electron acceptors?
Genetics Flash Facts
1561
Nicotinamides (NAD; NADP);Flavin nucleotides (FAD)
Genetics Flash Facts
1562
Q0782:Where is hexokinase found?
Genetics Flash Facts
1563
ubiquitous
Genetics Flash Facts
1564
Q0783:What are the kinetic characteristics of hexokinase in
relation to glucose?
Genetics Flash Facts
1565
high affinity; low capacity
Genetics Flash Facts
1566
Q0784:What product inhibits hexokinase?
Genetics Flash Facts
1567
Glucose 6-Phosphate
Genetics Flash Facts
1568
Q0785:Where does one find glucokinase?
Genetics Flash Facts
1569
in the liver
Genetics Flash Facts
1570
Q0786:What are the kinetic characteristics of glucokinase in
relation to glucose?
Genetics Flash Facts
1571
low affinity; high capacity
Genetics Flash Facts
1572
Q0787:Where does glycolysis occur in the cell?
Genetics Flash Facts
1573
Cytoplasm
Genetics Flash Facts
1574
Q0788:Which enzyme is activated in the fasting state
converting fructose-6-phosphate to fructose 2;6-
bisphosphate?
Genetics Flash Facts
1575
PFK2
Genetics Flash Facts
1576
Q0789:Which enzyme is activated in the fed state converting
fructose-2;6-bisphosphatase to fructose 6-phosphatate?
Genetics Flash Facts
1577
fructose bisphosphatate-2
Genetics Flash Facts
1578
Q0790:What molecule is the most potent activator of
phosphofructokinase; converting fructose-6-phosphate to
fructose 1;6-phosphate
Genetics Flash Facts
1579
Fructose 2;6 BP
Genetics Flash Facts
1580
Q0791:A deficiency of which glycolytic enzyme is associated
with hemolytic anemia?
Genetics Flash Facts
1581
pyruvate kinase;G6PDH is not part of glycolysis; it is part of
the HMP shunt
Genetics Flash Facts
1582
Q0792:What are the only two purely ketogenic amino acids?
Genetics Flash Facts
1583
Lysine and Leucine
Genetics Flash Facts
1584
Q0793:What factors increase the activation of the pyruvate
dehydrogenase complex?
Genetics Flash Facts
1585
Low ATP/ADP ratio (exercise);high NAD/NADH ratio;high
IC [Ca]
Genetics Flash Facts
1586
Q0794:How many ATP equivalents are needed to generate
glucose from pyruvate?
Genetics Flash Facts
1587
6 ATP equivalents
Genetics Flash Facts
1588
Q0795:What are the 4 fates for pyruvate at the end of
glycolysis?
Genetics Flash Facts
1589
1. Alanine;2. oxaloacetate;3. Acetyl CoA;4. Lactate
Genetics Flash Facts
1590
Q0796:What is the function of the Cori cycle?
Genetics Flash Facts
1591
transfers excess reducing equivalents from RBCs and muscle
to the liver; shifts the metabolic burden to the liver
Genetics Flash Facts
1592
Q0797:What are the steps in the TCA cycle?
Genetics Flash Facts
1593
Citrate > isocitrate > a-ketoglutarate > succinyl CoA >
succinate > fumate > malate > OAA
Genetics Flash Facts
1594
Q0798:What cofactors are required for the a-ketoglutarate
dehydrogenase complex?
Genetics Flash Facts
1595
B1; B2; B3; B5; lipoic acid
Genetics Flash Facts
1596
Q0799:Which complexes bring protons across the inner
mitochondrial membrane?
Genetics Flash Facts
1597
Complexes I; III; IV
Genetics Flash Facts
1598
Q0800:In oxidative phosphorylation; how many ATP are
produced from 1 NADH?
Genetics Flash Facts
1599
3 ATP
Genetics Flash Facts
1600
Q0801:In oxidative phosphorylation; how many ATP are
produced from 1 FADH2?
Genetics Flash Facts
1601
2 ATP
Genetics Flash Facts
1602
Q0802:What are the three categories of oxidative
phosphorylation poisons?
Genetics Flash Facts
1603
1. e- transport inhibitors;2. ATPase inhibitors;3. Uncoupling
agents
Genetics Flash Facts
1604
Q0803:What are the 4 irreversible enzymes of
gluconeogenesis and where are they located?
Genetics Flash Facts
1605
1. Pyruvate carboxylase (mitochondria);2. PEP carboxykinase
(PEPCK; cytosol);3. Fructose 1;6-bisphosphatase
(cytosol);4. Glucose 6-phophotase (ER)
Genetics Flash Facts
1606
Q0804:What tissues contain the irreversible enzymes of
gluconeogenesis?
Genetics Flash Facts
1607
liver; kidney; intestinal epithelium;muscle does not contain
G6Ptase and cannot participate in gluconeogenesis
Genetics Flash Facts
1608
Q0805:Deficiency of key gluconeogenic enzymes causes what
symptoms?
Genetics Flash Facts
1609
hypoglycemia
Genetics Flash Facts
1610
Q0806:The HMP shunt occurs in what parts of the body?
Genetics Flash Facts
1611
lactating mammary glands; liver; adrenal cortex
Genetics Flash Facts
1612
Q0807:In what part of the cell does the HMP shunt occur?
Genetics Flash Facts
1613
cytoplasm
Genetics Flash Facts
1614
Q0808:What enzyme is required for the irreversible reaction
of the HMP shunt producing NADPH?
Genetics Flash Facts
1615
Glucose-6-phosphate dehydrogenase
Genetics Flash Facts
1616
Q0809:What is the product of the reversible reaction of HMP
shunt?
Genetics Flash Facts
1617
Ribose-5-phosphate (for nucleotide synthesis) and
Glyceraldehyde 3-phosphate; fructose 6-
phosphate(intermediate of gyloslysis)
Genetics Flash Facts
1618
Q0810:GLUT2 receptors are found in which cells?
Genetics Flash Facts
1619
b-cells in the pancreas; Liver; kidney
Genetics Flash Facts
1620
Q0811:GLUT4 receptors are found in which cells?
Genetics Flash Facts
1621
Muscles and Fat
Genetics Flash Facts
1622
Q0812:What is the general function of insulin?
Genetics Flash Facts
1623
-moves glucose into cells;-inhibits glucagon secretion from a-
cells in pancreas
Genetics Flash Facts
1624
Q0813:Which organs do not require insulin for glucose
uptake?
Genetics Flash Facts
1625
Brain;RBCs;Intestine;Cornea;Kidney;Liver
Genetics Flash Facts
1626
Q0814:What are the anabolic effects of insulin?
Genetics Flash Facts
1627
increased glucose transport;increased glycogen synthesis and
storage;increased triglyceride synthesis and storage;increased
Na retention;increased protein synthesis
Genetics Flash Facts
1628
Q0815:What is the role of glycogen in skeletal muscle?
Genetics Flash Facts
1629
rapidly metabolize glucose during exercise
Genetics Flash Facts
1630
Q0816:What is the role of glycogen in hepatocytes?
Genetics Flash Facts
1631
storage depot to maintain blood sugar at appropriate levels.
Genetics Flash Facts
1632
Q0817:What are the main reactions of
glycogenesis/degradation?
Genetics Flash Facts
1633
G6P > G1P > UDP-glucose > branched version > limit
dextran > debranched glycogen
Genetics Flash Facts
1634
Q0818:What are the 4 glycogen storage diseases?
Genetics Flash Facts
1635
Von Gierke's Dz (Type I);Pompe's Dz (Type II);Cori's Dz
(Type III);McArdle's Dz (Type V)
Genetics Flash Facts
1636
Q0819:What are the findings of Von Gierke's Dz?
Genetics Flash Facts
1637
severe fasting hypoglycemia; high glycogen in the liver;
increased blood lactate; hepatomegaly
Genetics Flash Facts
1638
Q0820:What is the deficient enzyme in Von Gierke's Dz?
Genetics Flash Facts
1639
Glucose-6-phosphate
Genetics Flash Facts
1640
Q0821:What are the findings of Pompe's dz?
Genetics Flash Facts
1641
cardiomegaly and systemic findings leading to early death
Genetics Flash Facts
1642
Q0822:What is the deficient enzyme in Pompe's Dz?
Genetics Flash Facts
1643
Lysosomal a-1;4-glucosidase (acid maltase)
Genetics Flash Facts
1644
Q0823:What are the findings of Cori's disease?
Genetics Flash Facts
1645
Milder form of Van Gierke's (Type I) with normal blood
lactate levels
Genetics Flash Facts
1646
Q0824:What is the deficient enzyme in Cori's Dz?
Genetics Flash Facts
1647
debranching enzyme (a-1;6-glucosidase
Genetics Flash Facts
1648
Q0825:What are the findings of McArdle's dz (Type V)?
Genetics Flash Facts
1649
increased glycogen in muscle but cannot break it down ->
painful cramps and myoglobinuria with strenuous exercise
Genetics Flash Facts
1650
Q0826:What is the deficient enzyme in McArdle's Dz?
Genetics Flash Facts
1651
skeletal muscle phosphorylase
Genetics Flash Facts
1652
Q0827:A full-term neonate of uneventful delivery becomes
mentally retarded and hyperactive and has a musty odor.
What is the dx?
Genetics Flash Facts
1653
PKU
Genetics Flash Facts
1654
Q0828:A stressed executive comes home from work;
consumes 7 or 8 martinis in rapid succession before dinner;
and becomes hypoglycemic. What is the mechanism?
Genetics Flash Facts
1655
Increase in NADH prevents gluconeogenesis by shunting
pyruvate and oxaloacetate to lactate and malate
Genetics Flash Facts
1656
Q0829:A 2 year-old girl has an increase in abdominal girth;
failure to thrive; and skin and hair depigmentation. What is the
dx?
Genetics Flash Facts
1657
Kwashiorkor
Genetics Flash Facts
1658
Q0830:Alcoholic develops a rash; diarrhea; and altered mental
status. What is the Vitamin Deficiency?
Genetics Flash Facts
1659
Vitamin B3 (pellagra)
Genetics Flash Facts
1660
Q0831:A 51-year-old man has black spots in his sclera and
has noted that his urine turns black upon standing. What is his
dx?
Genetics Flash Facts
1661
Alkaptonuria
Genetics Flash Facts
1662
Q0832:A 25-year-old male complains of severe chest pain and
has xanthomas of his Achilles tendons. What is the dz and
where is the defect?
Genetics Flash Facts
1663
Familial hypercholesterolemia; LDL receptor
Genetics Flash Facts
1664
Q0833:A woman complains of intense muscle cramps and
darkened urine after exercise. What is the dx?
Genetics Flash Facts
1665
McArdle's Dz
Genetics Flash Facts
1666
Q0834:Two parents with albinismhave a sone who is normal.
Why is the son not affected?
Genetics Flash Facts
1667
Locus heterogeneity
Genetics Flash Facts
1668
Q0835:A 40-year-old man has chronic pancreatitis with
pancreatic insufficiency. What vitamins are likely deficient?
Genetics Flash Facts
1669
A;D;E;K
Genetics Flash Facts
1670
Q0836:What are the fat soluble vitamins?
Genetics Flash Facts
1671
A;D;E;K
Genetics Flash Facts
1672
Q0837:What two organs contribute most to the absorption of
fat-soluble vitamins?
Genetics Flash Facts
1673
gut (ileum) and pancreas
Genetics Flash Facts
1674
Q0838:What dzs can cause fat soluble vitamin deficiencies?
Genetics Flash Facts
1675
Malabsorption syndromes such as CF; celiac sprue; miner oil
intake can also cause deficiencies
Genetics Flash Facts
1676
Q0839:Which vitamins are water soluble?
Genetics Flash Facts
1677
B1; B2;B3;B5;B6;B12;C;Biotin;Folate
Genetics Flash Facts
1678
Q0840:Which water soluble vitamin does NOT wash out of
the body easily and why?
Genetics Flash Facts
1679
Vit B12 because it is stored in the liver
Genetics Flash Facts
1680
Q0841:What are some common symptoms of B-complex
deficiencies?
Genetics Flash Facts
1681
dermatitis; glossitis; and diarrhea
Genetics Flash Facts
1682
Q0842:What is another name for Vitamin A?
Genetics Flash Facts
1683
Retinol
Genetics Flash Facts
1684
Q0843:A deficiency in Vitamin A causes what symptoms?
Genetics Flash Facts
1685
night blindness; dry skin
Genetics Flash Facts
1686
Q0844:What is the function of Vitamin A?
Genetics Flash Facts
1687
constituent of visual pigments
Genetics Flash Facts
1688
Q0845:Excess of Vitamin A causes what symptoms?
Genetics Flash Facts
1689
arthralgias; fatigue; headaches; skin changes; sore throat;
alopecia
Genetics Flash Facts
1690
Q0846:What is another name for Vitamin B1?
Genetics Flash Facts
1691
thiamine
Genetics Flash Facts
1692
Q0847:A deficiency in Vitamin B1 causes what symptoms?
Genetics Flash Facts
1693
BeriBeri and Wernike-Korsakoff syndrome
Genetics Flash Facts
1694
Q0848:What is the function of Vitamin B1?
Genetics Flash Facts
1695
a cofactor for oxidative decarboxylation of a-keto acids and a
cofactor in the HMP shunt
Genetics Flash Facts
1696
Q0849:What is another name for Vitamin B2?
Genetics Flash Facts
1697
riboflavin
Genetics Flash Facts
1698
Q0850:A deficiency in Vitamin B2 causes what symptoms?
Genetics Flash Facts
1699
angular stomatitis; Cheilosis; corneal vascularization
Genetics Flash Facts
1700
Q0851:What is the function of Vitamin B2?
Genetics Flash Facts
1701
Cofactor for oxidation and reduction (e.g; FADH2)
Genetics Flash Facts
1702
Q0852:What is another name for Vitamin B3?
Genetics Flash Facts
1703
niacin
Genetics Flash Facts
1704
Q0853:A deficiency in Vitamin B3 causes what symptoms?
Genetics Flash Facts
1705
Pellagra: diarrhea; dermatitis; dementia
Genetics Flash Facts
1706
Q0854:What is the function of Vitamin B3?
Genetics Flash Facts
1707
Constituent of NAD; NADP (redox rxns); derived from
tryptophan
Genetics Flash Facts
1708
Q0855:What is another name for Vitamin B5?
Genetics Flash Facts
1709
pantothenate
Genetics Flash Facts
1710
Q0856:A deficiency in Vitamin B5 causes what symptoms?
Genetics Flash Facts
1711
dermatitis; enteritis; alopecia; adrenal insufficiency
Genetics Flash Facts
1712
Q0857:What is the function of Vitamin B5?
Genetics Flash Facts
1713
Constituent of CoA and component of FA synthase
Genetics Flash Facts
1714
Q0858:A deficiency in Vitamin C causes what symptoms?
Genetics Flash Facts
1715
Scurvy - swollen gums; bruising; anemia; poor wound healing
Genetics Flash Facts
1716
Q0859:What is the function of Vitamin C?
Genetics Flash Facts
1717
needed for the hydroxylation of proline and lysine in collagen
synthesis; keeps Fe+2 in a reduced state increaseinf Fe
absorption; cofactor for DA->NE
Genetics Flash Facts
1718
Q0860:A deficiency in Vitamin A causes what symptoms?
Genetics Flash Facts
1719
night blindness; dry skin
Genetics Flash Facts
1720
Q0861:What is the function of Vitamin A?
Genetics Flash Facts
1721
constituent of visual pigments
Genetics Flash Facts
1722
Q0862:Excess of Vitamin A causes what symptoms?
Genetics Flash Facts
1723
arthralgias; fatigue; headaches; skin changes; sore throat;
alopecia
Genetics Flash Facts
1724
Q0863:What is another name for Vitamin B1?
Genetics Flash Facts
1725
thiamine
Genetics Flash Facts
1726
Q0864:What is the function of Vitamin B1?
Genetics Flash Facts
1727
a cofactor for oxidative decarboxylation of a-keto acids and a
cofactor in the HMP shunt
Genetics Flash Facts
1728
Q0865:What is another name for Vitamin B2?
Genetics Flash Facts
1729
riboflavin
Genetics Flash Facts
1730
Q0866:A deficiency in Vitamin B2 causes what symptoms?
Genetics Flash Facts
1731
angular stomatitis; Cheilosis; corneal vascularization
Genetics Flash Facts
1732
Q0867:What is the function of Vitamin B2?
Genetics Flash Facts
1733
Cofactor for oxidation and reduction (e.g; FADH2)
Genetics Flash Facts
1734
Q0868:What is another name for Vitamin B3?
Genetics Flash Facts
1735
niacin
Genetics Flash Facts
1736
Q0869:A deficiency in Vitamin B3 causes what symptoms?
Genetics Flash Facts
1737
Pellagra: diarrhea; dermatitis; dementia
Genetics Flash Facts
1738
Q0870:What is the function of Vitamin B3?
Genetics Flash Facts
1739
Constituent of NAD; NADP (redox rxns); derived from
tryptophan
Genetics Flash Facts
1740
Q0871:What is another name for Vitamin B5?
Genetics Flash Facts
1741
pantothenate
Genetics Flash Facts
1742
Q0872:A deficiency in Vitamin B5 causes what symptoms?
Genetics Flash Facts
1743
dermatitis; enteritis; alopecia; adrenal insufficiency
Genetics Flash Facts
1744
Q0873:What is the function of Vitamin B5?
Genetics Flash Facts
1745
Constituent of CoA and component of FA synthase
Genetics Flash Facts
1746
Q0874:What is another name for Vitamin B6?
Genetics Flash Facts
1747
pyridoxine
Genetics Flash Facts
1748
Q0875:A deficiency in Vitamin B6 causes what symptoms?
Genetics Flash Facts
1749
convulsions; hyperirritability; peripheral neuropathy
Genetics Flash Facts
1750
Q0876:What is the function of Vitamin B6?
Genetics Flash Facts
1751
converted to pyridoxal phosphate; a cofactor in
transanimation; decarboxylation and heme synthesis
Genetics Flash Facts
1752
Q0877:What is another name for Vitamin B12?
Genetics Flash Facts
1753
cobalamin
Genetics Flash Facts
1754
Q0878:A deficiency in Vitamin B12 causes what symptoms?
Genetics Flash Facts
1755
macrocytic; megaloblastic anemia; neurologic symptoms;
glossitis
Genetics Flash Facts
1756
Q0879:What is the function of Vitamin B12?
Genetics Flash Facts
1757
cofactor in homocysteine methylation and methylmalonyl Co-
A handlining
Genetics Flash Facts
1758
Q0880:B12 is found in what types of foods?
Genetics Flash Facts
1759
Only animal products
Genetics Flash Facts
1760
Q0881:What test is used to detect a B12 deficiency?
Genetics Flash Facts
1761
Schilling Test
Genetics Flash Facts
1762
Q0882:What are the three main causes of a B12 deficiency?
Genetics Flash Facts
1763
Malabsorption; lack of intrinsic factor (pernicious anemia) or
absence of terminal ileum (chron's dz)
Genetics Flash Facts
1764
Q0883:A deficiency in folic acid causes what symptoms?
Genetics Flash Facts
1765
macrocytic megaloblastic anemia w/o neuro symptoms (unlike
B12)
Genetics Flash Facts
1766
Q0884:What is the function of Folic acid?
Genetics Flash Facts
1767
coenzyme for 1-carbon transfers (methylation rxns); needed
for the synthesis of nitrogenous bases in DNA and RNA
Genetics Flash Facts
1768
Q0885:Supplemental folic acid is given in pregnancy to
prevent what defects?
Genetics Flash Facts
1769
neural tube
Genetics Flash Facts
1770
Q0886:What is the folic acid precursor in bacteria?
Genetics Flash Facts
1771
PABA
Genetics Flash Facts
1772
Q0887:A deficiency in biotin causes what symptoms?
Genetics Flash Facts
1773
dermatitis; enteritis
Genetics Flash Facts
1774
Q0888:What is the function of biotin?
Genetics Flash Facts
1775
cofactor for carboxylation rxns: pyruvate -> oxaloacetate;
Acetyl CoA -> malonyl CoA; Proprionyl CoA ->
methylmalonyl CoA
Genetics Flash Facts
1776
Q0889:What is another name for Vitamin C?
Genetics Flash Facts
1777
Ascorbic acid
Genetics Flash Facts
1778
Q0890:A deficiency in Vitamin C causes what symptoms?
Genetics Flash Facts
1779
Scurvy - swollen gums; bruising; anemia; poor wound healing
Genetics Flash Facts
1780
Q0891:What is the function of Vitamin C?
Genetics Flash Facts
1781
needed for the hydroxylation of proline and lysine in collagen
synthesis; keeps Fe+2 in a reduced state increaseinf Fe
absorption; cofactor for DA->NE
Genetics Flash Facts
1782
Q0892:A deficiency in Vitamin D causes what symptoms?
Genetics Flash Facts
1783
Rickets in children and osteomalacia in adults (improper bone
mineralization); hypocalcemic tetany
Genetics Flash Facts
1784
Q0893:What is the function of Vitamin D?
Genetics Flash Facts
1785
Increased absorption of Ca and P in the gut
Genetics Flash Facts
1786
Q0894:What is the mechanism by which Vitamin D
deficiency causes tetany?
Genetics Flash Facts
1787
less D -> less Ca -> lowering the membrane potential of a cell
-> making it easier to get to threshold for AP
Genetics Flash Facts
1788
Q0895:Excess of Vitamin D causes what symptoms?
Genetics Flash Facts
1789
Hypercalcemia; stupor; lossof appetite
Genetics Flash Facts
1790
Q0896:A deficiency in Vitamin E causes what symptoms?
Genetics Flash Facts
1791
Increased fragility of erythrocytes; neurodysfunction
Genetics Flash Facts
1792
Q0897:What is the function of Vitamin E?
Genetics Flash Facts
1793
Antioxidant: protects erythrocytes from hemolysis
Genetics Flash Facts
1794
Q0898:A deficiency in Vitamin K causes what symptoms?
Genetics Flash Facts
1795
Neonatal hemorrhage with increased PT and PTT; but normal
bleeding time (neonates unable to synthesize Vit K)
Genetics Flash Facts
1796
Q0899:What is the function of Vitamin K?
Genetics Flash Facts
1797
Catalyzes gamma-carboxylation of glutamic acid residues on
various proteins concerned with clotting; synthesized by
intestinal flora
Genetics Flash Facts
1798
Q0900:What can cause a Vitamin K deficiency?
Genetics Flash Facts
1799
braod spectrum antibiotics (killing intestinal flora)
Genetics Flash Facts
1800
Q0901:What are the Vitamin K dependent clotting factors?
Genetics Flash Facts
1801
II; VII; IX; X; protein C and S
Genetics Flash Facts
1802
Q0902:Which drug is a Vitamin K antagonist?
Genetics Flash Facts
1803
Warfarin
Genetics Flash Facts
1804
Q0903:A deficiency in zinc causes what symptoms?
Genetics Flash Facts
1805
delayed wound healing; hypogonadism; decreased adult hair
Genetics Flash Facts
1806
Q0904:Outline the pathway of ethanol metabolism.
Genetics Flash Facts
1807
ethanol ->[alcohol dehydrogenase] -> Acetaldehyde -
>[acetaldehyde dehydrogenase]-> acetate
Genetics Flash Facts
1808
Q0905:What is the limiting reagent in the ethanol metabolism
pathway?
Genetics Flash Facts
1809
NAD+
Genetics Flash Facts
1810
Q0906:What are the pharmacokinetics of alcohol
dehydrogenase?
Genetics Flash Facts
1811
zero-order
Genetics Flash Facts
1812
Q0907:Which drug inhibits acetaldehyde dehydrogenase
allowing for the accumulation of acetaldehyde and increasing
hangover symptoms?
Genetics Flash Facts
1813
Disulfiram (anabuse)
Genetics Flash Facts
1814
Q0908:Describe the mechainsm for ethanol hypoglycemia in
chronic alcoholics.
Genetics Flash Facts
1815
Ethanol metabolism -> increased NADH/NAD+ ratio in liver
-> pyruvate diverts to lactate and OAA diverts to malate ->
inhibition of gluconeogenesis
Genetics Flash Facts
1816
Q0909:Kwashiorkor is malnutrition resulting from what
deficiency?
Genetics Flash Facts
1817
protein
Genetics Flash Facts
1818
Q0910:What does a pt with Kwashiorkor look like?
Genetics Flash Facts
1819
small child with a swollen belly
Genetics Flash Facts
1820
Q0911:Marasmus is a malnutrition syndrome resulting from
what deficiency?
Genetics Flash Facts
1821
calories/energy
Genetics Flash Facts
1822
Q0912:What does a pt with marasmus look like?
Genetics Flash Facts
1823
small child with tissue and muscle wasting
Genetics Flash Facts
1824
Q0913:Describe the structure of chromatin.
Genetics Flash Facts
1825
(-)charged DNA loops choice around nucleosome core to form
a nucleosome bead; H1 ties the nucleosomes together in a
string
Genetics Flash Facts
1826
Q0914:Which is the only histone that is not in the
nucleosome core?
Genetics Flash Facts
1827
H1
Genetics Flash Facts
1828
Q0915:Which form of chromatin is transcriptionally inactive?
Active?
Genetics Flash Facts
1829
Inactive: heterochromatin Active: Euchromatin
Genetics Flash Facts
1830
Q0916:Which amino acids are necessary for purine synthesis?
Genetics Flash Facts
1831
Glycine; Aspartate; Glutamine
Genetics Flash Facts
1832
Q0917:Which nucleotide bonds are stronger and what is the
consequence of this?
Genetics Flash Facts
1833
G-C bonds are stronger (3 H-bonds) resulting in a higher
melting temperature
Genetics Flash Facts
1834
Q0918:In regards to nucleotides; what is transition?
Genetics Flash Facts
1835
substitution of a purine for a purine or pyrimidine for
pyrimidine
Genetics Flash Facts
1836
Q0919:In regards to nucleotides; what is transversion?
Genetics Flash Facts
1837
substituting purine for pyrimidine or vice versa
Genetics Flash Facts
1838
Q0920:What are the four main features of the genetic code?
Genetics Flash Facts
1839
unambiguous; degenerate; nonoverlapping; universal
Genetics Flash Facts
1840
Q0921:What does it mean to say that the genetic code is
degenerate?
Genetics Flash Facts
1841
more than one codon may code for the same amino acid
Genetics Flash Facts
1842
Q0922:What is the mechanism of base excision repair?
Genetics Flash Facts
1843
Glycosylases remove damaged bases; endonuclease cuts DNA
at apyrimidinic site; sugar is removed; gap is filled and
resealed
Genetics Flash Facts
1844
Q0923:What is the mechanism of mismatch repair?
Genetics Flash Facts
1845
unmethylated; newly synthesized string is recognized;
mismatched nucleotides are removed; gap is filled and resealed
Genetics Flash Facts
1846
Q0924:Which DNA repair mechanism is mutated in
hereditary nonpolyposis colon cancer?
Genetics Flash Facts
1847
mismatch repair
Genetics Flash Facts
1848
Q0925:What is the mechanism of nonhomologous end joining?
Genetics Flash Facts
1849
bringing together two ends of DNA fragments
Genetics Flash Facts
1850
Q0926:What is the direction of DNA/RNA/protein
synthesis?
Genetics Flash Facts
1851
5' -> 3'
Genetics Flash Facts
1852
Q0927:How are amino acids joined?
Genetics Flash Facts
1853
N to C
Genetics Flash Facts
1854
Q0928:What are the three types of RNA?
Genetics Flash Facts
1855
mRNA; tRNA; rRNA
Genetics Flash Facts
1856
Q0929:Which type of RNA is the most abundant?
Genetics Flash Facts
1857
rRNA
Genetics Flash Facts
1858
Q0930:Which type of RNA is the largest?
Genetics Flash Facts
1859
mRNA
Genetics Flash Facts
1860
Q0931:Which type of RNA is the smallest?
Genetics Flash Facts
1861
tRNA
Genetics Flash Facts
1862
Q0932:What is the function of RNA pol-I?
Genetics Flash Facts
1863
makes rRNA
Genetics Flash Facts
1864
Q0933:What is the function of RNA pol-II?
Genetics Flash Facts
1865
Makes mRNA
Genetics Flash Facts
1866
Q0934:What is the function of RNA pol-III?
Genetics Flash Facts
1867
makes tRNA
Genetics Flash Facts
1868
Q0935:What substance; found in death cap mushrooms;
inhibits RNA pol-II?
Genetics Flash Facts
1869
a-amanitin
Genetics Flash Facts
1870
Q0936:Which codon codes for methionine; thus initiating
mRNA?
Genetics Flash Facts
1871
AUG
Genetics Flash Facts
1872
Q0937:What are the three stop codons?
Genetics Flash Facts
1873
UAA; UAG; UGA
Genetics Flash Facts
1874
Q0938:Which phase of the cell cycle is the shortest?
Genetics Flash Facts
1875
Mitosis
Genetics Flash Facts
1876
Q0939:In which phase is new DNA synthesized?
Genetics Flash Facts
1877
S phase
Genetics Flash Facts
1878
Q0940:What type of cells remain in Go and are regenerated
from stem cells?
Genetics Flash Facts
1879
Permanent cells such as neurons; skeletal and cardiac muscle;
RBCs
Genetics Flash Facts
1880
Q0941:What type of cells enter G1 from Go when
stimulated?
Genetics Flash Facts
1881
Stable cells such as lymphocytes and hepatocytes
Genetics Flash Facts
1882
Q0942:What type of cells never go to Go and divide rapidly
with a short G1?
Genetics Flash Facts
1883
Labile cells such as bone marrow; gut epithelium; skin; and
hair follicles
Genetics Flash Facts
1884
Q0943:What is the function of the rough ER (RER)?
Genetics Flash Facts
1885
synthesis of secretory (exported) proteins and N-linked
oligosaccharide addition to many proteins
Genetics Flash Facts
1886
Q0944:What type of cells are rich in RER?
Genetics Flash Facts
1887
Mucus-secreting goblet cells of the small intestine and
antibody-secreting plasma cells
Genetics Flash Facts
1888
Q0945:What is the function of Nissl bodies in neurons?
Genetics Flash Facts
1889
synthesize enzymes (e.g; ChAT) and peptide
neurotransmitters
Genetics Flash Facts
1890
Q0946:What is the function of the smooth ER (SER)?
Genetics Flash Facts
1891
site of steroid synthesis and detoxification of drugs and
poisons
Genetics Flash Facts
1892
Q0947:What type of cells are rich in SER?
Genetics Flash Facts
1893
liver hepatocytes and steroid hormone-producing cells of the
adrenal cortex
Genetics Flash Facts
1894
Q0948:What are the 6 main functions of the Golgi apparatus?
Genetics Flash Facts
1895
taking protwins and lipids from the ER to the
PM/lysosomes/secretory vesicles; 2. Modifies N-oligosac. On
asparagine; 3. adds O-oligosac to Ser and Thr; 4. addd
mannose-6P to lysosomal proteins (targeting to lysosome); 5.
prtoeoglycan assembly; 6. sulfation of sugar on proteoglycans
Genetics Flash Facts
1896
Q0949:What is the pathophys of I-cell disease and what are
the consequences?
Genetics Flash Facts
1897
mannose-6P cannot be added to the lysosomal proteins so
enzymes are secreted out of the cell instead of being targeted
to the lysosome
Genetics Flash Facts
1898
Q0950:What are the characteristics of I-cell disease?
Genetics Flash Facts
1899
coarse facial features; clouded corneas; restricted joint
movement; high plasma levels of lysosomal enzymes. Can be
fatal in childhood
Genetics Flash Facts
1900
Q0951:What are the three main cvesicular trafficking proteins
and where do they go?
Genetics Flash Facts
1901
1. COP-I: retrograde; Golgi -> ER; 2. COP-II anterograde;
RER -> cis-Golgi; 3.Clathrin: trans-Golgi->lysosomes; plasma
membrane->endosomes (receptor mediated endocytosis)
Genetics Flash Facts
1902
Q0952:In what cellular structures would one find
microtubules?
Genetics Flash Facts
1903
flagella; cilia; mitotic spindles
Genetics Flash Facts
1904
Q0953:What are the four main drugs that act on microtubules
and for what dz?
Genetics Flash Facts
1905
1. Mebendazole/thiabendazole (antihelminthic); 2. Taxol (anti-
breast ca); 3. Grisofulvin (antifungal); 4.
Vineristine/vinblastine (anti-ca); 5. Colchicine (anti-gout)
Genetics Flash Facts
1906
Q0954:What syndrome is caused by a defect in microtubule
polymerization resulting in decreased phagocytosis?
Genetics Flash Facts
1907
Chediak-Higashi
Genetics Flash Facts
1908
Q0955:Describe the structure of cilia.
Genetics Flash Facts
1909
9+2 arrangement of microtubules; doublets linked by dynein
ATPase and allows for the bending of cilia
Genetics Flash Facts
1910
Q0956:Which protein is responsible for retrograde motion of
cilia? Anterograde?
Genetics Flash Facts
1911
retrograde = dynein; anterograde = kinesin
Genetics Flash Facts
1912
Q0957:What is Kartagener's syndrome?
Genetics Flash Facts
1913
immobile cilia due to a dynein arm defect
Genetics Flash Facts
1914
Q0958:What are the symptoms of Kartagener's syndrome?
Genetics Flash Facts
1915
infertility in both males and females; bronchiectasis; recurrent
sinitus (any place where cilia are moving things around)
Genetics Flash Facts
1916
Q0959:What are the two most abundant components of the
plasma membrane?
Genetics Flash Facts
1917
cholesterol and phospholipids
Genetics Flash Facts
1918
Q0960:What is the major component of RBC membranes;
myelin; bile and surfactant?
Genetics Flash Facts
1919
phosphatidylcholine (lecithin)
Genetics Flash Facts
1920
Q0961:What is the NA/ K exchange ratio in a Na/K ATPase
pump?
Genetics Flash Facts
1921
3 Na out:2 K in
Genetics Flash Facts
1922
Q0962:Explain when in the exchange is the Na/K ATPase
pump phosphorylated/dephos?
Genetics Flash Facts
1923
Phosphorylated to let Na out (ATP->ADP) and
dephosphorylated to let K in
Genetics Flash Facts
1924
Q0963:What is the most abundant protein in the human
body?
Genetics Flash Facts
1925
collagen
Genetics Flash Facts
1926
Q0964:90% of all collagen is of what type?
Genetics Flash Facts
1927
Type I
Genetics Flash Facts
1928
Q0965:Type I collagen provides support for which
organs/functions?
Genetics Flash Facts
1929
Bone; Skin; Tendon; dentin; fascia; cornea; late wound repair
Genetics Flash Facts
1930
Q0966:Type II collagen provides support for which
organs/functions?
Genetics Flash Facts
1931
Cartilage; vitreous body; nucleus pulposus
Genetics Flash Facts
1932
Q0967:Type III collagen provides support for which
organs/functions?
Genetics Flash Facts
1933
Reticulin: skin; blood vessels; uterus; fetal tissue; granulation
tissue
Genetics Flash Facts
1934
Q0968:Type IV collagen provides support for which
organs/functions?
Genetics Flash Facts
1935
Basement membrane or basa lamina
Genetics Flash Facts
1936
Q0969:What are the four phases of collagen synthesis in the
fibroblasts and where do they take place?
Genetics Flash Facts
1937
1. synthesis (RER); 2. hydroxylation (ER); 3. glycosylation
(Golgi); 4. exocytosis as procollagen
Genetics Flash Facts
1938
Q0970:What are the two phases of collagen synthesis that
occur outside of the fibroblasts?
Genetics Flash Facts
1939
1. proteolytic processing (procollagen ->tropocollagen); 2.
cross-linking by covalent Lys-hydroxylysine = collagen fibrils
Genetics Flash Facts
1940
Q0971:What stage of collagen synthesis requires Vitamin C?
Genetics Flash Facts
1941
hydroxylation in the ER
Genetics Flash Facts
1942
Q0972:What are the three signs of Ehlers-Danlos syndrome?
Genetics Flash Facts
1943
1. hyperextensible skin; 2. tendency to bleed; 3. hypermobile
joints (faulty collagen synthesis)
Genetics Flash Facts
1944
Q0973:What type of collagen is most affected by Ehlers-
Danlo syndrome?
Genetics Flash Facts
1945
Type III (blood vessel instability)
Genetics Flash Facts
1946
Q0974:What is the most common form of osteogenesis
imperfecta?
Genetics Flash Facts
1947
AD inheritance with abnl Type I synthesis
Genetics Flash Facts
1948
Q0975:What are the key clinical features of osteogenesis
imperfecta?
Genetics Flash Facts
1949
1. multiple fractures from minimal trauma (brittle bone); 2.
blue sclerae (translucency of connective tissue over the
choroid); 3. hearing loss; 4. dental imperfections
Genetics Flash Facts
1950
Q0976:What may osteogenesis imperfecta be confused with
upon examination?
Genetics Flash Facts
1951
child abuse
Genetics Flash Facts
1952
Q0977:For the following cell type; state the
immunohistochemical stain used to see it: connective tissue
Genetics Flash Facts
1953
Vimentin
Genetics Flash Facts
1954
Q0978:For the following cell type; state the
immunohistochemical stain used to see it: Muscle
Genetics Flash Facts
1955
Desmin
Genetics Flash Facts
1956
Q0979:For the following cell type; state the
immunohistochemical stain used to see it: Epithelial cells
Genetics Flash Facts
1957
cytokeratin
Genetics Flash Facts
1958
Q0980:For the following cell type; state the
immunohistochemical stain used to see it: Neuroglia
Genetics Flash Facts
1959
glial fibrillary acid proteins (GFAP)
Genetics Flash Facts
1960
Q0981:For the following cell type; state the
immunohistochemical stain used to see it: neurons
Genetics Flash Facts
1961
neurofilaments
Genetics Flash Facts
1962
Q0982:In what structures does one find elastin?
Genetics Flash Facts
1963
lungs; large arteries; elastic ligaments
Genetics Flash Facts
1964
Q0983:Elastin is rich in which two amino acids?
Genetics Flash Facts
1965
Proline and lysine
Genetics Flash Facts
1966
Q0984:Marfan syndrome is caused by a defect in which
component of elastin?
Genetics Flash Facts
1967
fibrillin
Genetics Flash Facts
1968
Q0985:Elastase is inhibited in which disease? (Hint: it also
causes early-onset emphysema)
Genetics Flash Facts
1969
a1-antitrypsin deficiency
Genetics Flash Facts
1970
Q0986:What syndrome is caused by a defect in microtubule
polymerization resulting in decreased phagocytosis?
Genetics Flash Facts
1971
Chediak-Higashi
Genetics Flash Facts
1972
Q0987:Fructose intolerance is a hereditary deficiency of what
enzyme?
Genetics Flash Facts
1973
Aldolase B
Genetics Flash Facts
1974
Q0988:What is the pathophys of fructose intolerance?
Genetics Flash Facts
1975
fructose-1-P accumulates causing decreased available
phosphate resulting in inhibition of glycogenolysis and
gluconeogenesis
Genetics Flash Facts
1976
Q0989:What is the tx for fructose intolerance?
Genetics Flash Facts
1977
decrease intake of both fructose and sucrose (glucose and
fructose)
Genetics Flash Facts
1978
Q0990:Essential fructosuria is a defect in which enzyme?
Genetics Flash Facts
1979
fructokinase
Genetics Flash Facts
1980
Q0991:Galactosemia results from the absence in what
enzyme?
Genetics Flash Facts
1981
galactose-1-phosphate uridyltransferase
Genetics Flash Facts
1982
Q0992:What is the pattern of inheritance in galactosemia?
Genetics Flash Facts
1983
AR
Genetics Flash Facts
1984
Q0993:What are the symptoms of galactosemia?
Genetics Flash Facts
1985
cataracts; hepatosplenomegaly; mental retardation
Genetics Flash Facts
1986
Q0994:Lactase deficiency is a hereditary lactose intolerance
due to a loss of what type of enzyme?
Genetics Flash Facts
1987
Brush border enzyme
Genetics Flash Facts
1988
Q0995:What demographic is most susceptible to lactase
deficiency and what are the sx?
Genetics Flash Facts
1989
blacks; Asians; bloating; cramps; osmotic diarrhea
Genetics Flash Facts
1990
Q0996:What are the essential amino acids?
Genetics Flash Facts
1991
Phe; Val; Trp; Thr; Ile; Met; His; Arg; Leu; Lys
Genetics Flash Facts
1992
Q0997:what is the pathophys of hyperammonemia?
Genetics Flash Facts
1993
excess NH4 depletes a-ketoglutarate; leading to inhibition of
TCA cycle
Genetics Flash Facts
1994
Q0998:What are the sx of ammonia intoxication?
Genetics Flash Facts
1995
tremor; slurring of speech; somnolence; vomiting; cerebral
edema; blurring vision
Genetics Flash Facts
1996
Q0999:What are the three main derivatives of phenylalanine?
Genetics Flash Facts
1997
Dopamine; NE; Epi
Genetics Flash Facts
1998
Q1000:What are the three main derivatives of tryptophan?
Genetics Flash Facts
1999
Niacin; serotonin; melatonin
Genetics Flash Facts
2000
Q1001:What causes the musty odor of PKU?
Genetics Flash Facts
2001
disorder of excess aromatic amino acids
Genetics Flash Facts
2002
Q1002:Variable inheritance of albinism is due to what genetic
mechanism?
Genetics Flash Facts
2003
locus heterozygosity
Genetics Flash Facts
2004
Q1003:Albinism is a congential deficiency one of which two
items?
Genetics Flash Facts
2005
1. Tyrosine (auto. Recess.) or 2. defective tyrosine
transporters
Genetics Flash Facts
2006
Q1004:All forms of homocystinuria have wha inheritance
pattern?
Genetics Flash Facts
2007
autosomal recessive
Genetics Flash Facts
2008
Q1005:What are the sx of homocystinuria?
Genetics Flash Facts
2009
mental retardation; osteoporosis; tall stature; kyphosis; lens
subluxation; atherosclerosis (stroke and MI)
Genetics Flash Facts
2010
Q1006:The conversion of methionine to cysteine is dependent
on which two vitamins?
Genetics Flash Facts
2011
B6 (homocysteine to cystothionine) and B12 (homocysteine
back to Met)
Genetics Flash Facts
2012
Q1007:Maple syrup urine disease is due to what defect?
Genetics Flash Facts
2013
Blocked degradation of branced amino acid (Ile; Val; Leu) due
to decreased a-ketoacid dehydrogenase
Genetics Flash Facts
2014
Q1008:What are the sx of maple syrup urine disease?
Genetics Flash Facts
2015
CNS defecs; mental retardation and death
Genetics Flash Facts
2016
Q1009:Adenosine deanimase deficiency can cause what other
major immunologic complication?
Genetics Flash Facts
2017
SCID
Genetics Flash Facts
2018
Q1010:For the following lysosomal storage dz state (1) main
findings; (2) deficient enzyme; (3)accumulated substrate and
(4) inheritance pattern: Fabry's Dz
Genetics Flash Facts
2019
1. peripheral neuropathy of hands/feet; CV/renal dz;2. a-
galactosidase A;3. ceramide trihexoside;4. XR
Genetics Flash Facts
2020
Q1011:For the following lysosomal storage dz state (1) main
findings; (2) deficient enzyme; (3)accumulated substrate and
(4) inheritance pattern: Gaucher's Dz
Genetics Flash Facts
2021
1. hepatosplenomegally; aseptic necrosis of femur; bone
crises; Gaucher cells (macrophages);2. B-glucocerebrosidase;3.
glucocerebroside;4. AR;Most common lysosomal storage dz
Genetics Flash Facts
2022
Q1012:For the following lysosomal storage dz state (1) main
findings; (2) deficient enzyme; (3)accumulated substrate and
(4) inheritance pattern: Neimann-Pick
Genetics Flash Facts
2023
1. progressive neurodegeneration; hepatosplenomegally;
cherry red spot (on macula);2. Sphingomyelinase;3.
Shingomyelin;4. AR
Genetics Flash Facts
2024
Q1013:For the following lysosomal storage dz state (1) main
findings; (2) deficient enzyme; (3)accumulated substrate and
(4) inheritance pattern: Tay-Sachs
Genetics Flash Facts
2025
1. progressive neurodegeneration; developmental delay;
lysozymes with onion skin;2. Hexosaminidase A;3. GM2
ganglioside;4. AR
Genetics Flash Facts
2026
Q1014:For the following lysosomal storage dz state (1) main
findings; (2) deficient enzyme; (3)accumulated substrate and
(4) inheritance pattern: Krabbe's dz
Genetics Flash Facts
2027
1. peripheral neuropathy; developmental delay; optic
atrophy;2. B-galactosidase;3. Galactocerebroside;4. AR
Genetics Flash Facts
2028
Q1015:For the following lysosomal storage dz state (1) main
findings; (2) deficient enzyme; (3)accumulated substrate and
(4) inheritance pattern: Metachromic leukodystrophy
Genetics Flash Facts
2029
1. central and peripheral demyelination with ataxia and
dementia;2. Arylsulfatase A;3. Cerebroside sulfate;4. AR
Genetics Flash Facts
2030
Q1016:In fatty acid synthesis; the conversion of Acetyl-CoA
to Malonyl CoA requires what cofactor?
Genetics Flash Facts
2031
Biotin
Genetics Flash Facts
2032
Q1017:In fatty acid synthesis; what mechanism carries acetyl
CoA across the inner mitochondril membrane into the
cytoplasm?
Genetics Flash Facts
2033
Citrate shuttle
Genetics Flash Facts
2034
Q1018:In fatty acid degradation; what mechanism carries acyl
CoA across the inner mitochondrial membrane into the
mitochondria?
Genetics Flash Facts
2035
carnitine shuttle
Genetics Flash Facts
2036
Q1019:What is the rate limiting step in fatty acid degradation?
Genetics Flash Facts
2037
Carnitine shuttle
Genetics Flash Facts
2038
Q1020:Under what physiological conditions will one see
ketone bodies?
Genetics Flash Facts
2039
DKA or prolonged starvation
Genetics Flash Facts
2040
Q1021:The rate limiting step in cholesterol synthesis is
catalyzed by which enzyme?
Genetics Flash Facts
2041
HMG-CoA reductase
Genetics Flash Facts
2042
Q1022:What is the classification of the drug Lovastatin?
Genetics Flash Facts
2043
HMG-CoA reductase inhibitor
Genetics Flash Facts
2044
Q1023:What are the two essential fatty acids?
Genetics Flash Facts
2045
Linoeic acid and linolenic acid
Genetics Flash Facts
2046
Q1024:What is the function of pancreatic lipase?
Genetics Flash Facts
2047
degradation of TG in sm intestine
Genetics Flash Facts
2048
Q1025:What is the function of lipoprotein lipase?
Genetics Flash Facts
2049
degradation of TG circulating in chylomicrons and VLDLs
Genetics Flash Facts
2050
Q1026:What is the function of Hepatic TG lipase?
Genetics Flash Facts
2051
degradation of TG remaining in IDL
Genetics Flash Facts
2052
Q1027:What is the function of hormone-sensitive lipase?
Genetics Flash Facts
2053
Degradation of TG stored in adipocytes
Genetics Flash Facts
2054
Q1028:What is the funtion of lecithin-cholesterol
acyltransferase (LCAT)?
Genetics Flash Facts
2055
catalyzes the esterification of cholesterol
Genetics Flash Facts
2056
Q1029:what is the function of cholesterol ester transfer
protein (CETP)?
Genetics Flash Facts
2057
mediated the transfer of cholesterol esters to other lipoprotein
particles
Genetics Flash Facts
2058
Q1030:What is the role of apolipoprotein A-I?
Genetics Flash Facts
2059
activates LCAT
Genetics Flash Facts
2060
Q1031:What is the role of apolipoprotein B-100?
Genetics Flash Facts
2061
binds to LDL receptor; mediates VLDL secretion
Genetics Flash Facts
2062
Q1032:What is the role of apolipoprotein C-II?
Genetics Flash Facts
2063
cofactor for lipoprotein lipase
Genetics Flash Facts
2064
Q1033:What is the role of apolipoprotein B-48?
Genetics Flash Facts
2065
mediates chylomicrom secretion
Genetics Flash Facts
2066
Q1034:What is the role of apolipoprotein E?
Genetics Flash Facts
2067
Mediates remnant uptake (Extra uptake)
Genetics Flash Facts
2068
Q1035:What is the function of the following lipoprotein:
Chylomicron
Genetics Flash Facts
2069
delivers dietary TGs to peripheral tissues and cholesterol to
the liver
Genetics Flash Facts
2070
Q1036:What apo's are associated with chylomicrons?
Genetics Flash Facts
2071
B-48; A;C; and E
Genetics Flash Facts
2072
Q1037:What is the function of the following lipoprotein:
VLDL
Genetics Flash Facts
2073
delivers hepatic TGs to peripheral tissues
Genetics Flash Facts
2074
Q1038:what apos are associated with VLDL?
Genetics Flash Facts
2075
B-100; C-II and E
Genetics Flash Facts
2076
Q1039:What is the function of the following lipoprotein: IDL
Genetics Flash Facts
2077
Delivers TGs and cholesterol to the liver to be degraded to
LDL
Genetics Flash Facts
2078
Q1040:What apos are associated with IDL?
Genetics Flash Facts
2079
B-100 and E
Genetics Flash Facts
2080
Q1041:What is the function of the following lipoprotein: LDL
Genetics Flash Facts
2081
delivers hepatic cholesterol to peripheral tissues
Genetics Flash Facts
2082
Q1042:What apos are associated with LDL?
Genetics Flash Facts
2083
B-100
Genetics Flash Facts
2084
Q1043:What is the function of the following lipoprotein:
HDL
Genetics Flash Facts
2085
mediates centripital transport of cholesterol (periphery to
liver); repository for apoC and apoE
Genetics Flash Facts
2086
Q1044:Hypercholesterolemia has which Family type? what is
increased?
Genetics Flash Facts
2087
Type IIa;Increased LDL
Genetics Flash Facts
2088
Q1045:Combined hypercholesterolemia has which familial
type? what is increased?
Genetics Flash Facts
2089
Type IIb;LDL; VLDL both increased
Genetics Flash Facts
2090
Q1046:Hypertriglyceridemia has which familial type? what is
increased?
Genetics Flash Facts
2091
Type IV;VLDL increased
Genetics Flash Facts
2092
Q1047:Type IIa hypercholesterolemia has what
pathophysiology?
Genetics Flash Facts
2093
decreased number of LDL receptors
Genetics Flash Facts
2094
Q1048:What metabolic processes occur solely in the
mitochondria?
Genetics Flash Facts
2095
FA oxidation (b-oxidation); acetyl CoA production; Krebs
Genetics Flash Facts
2096
Q1049:What metabolic processes occur solely in the
cytoplasm?
Genetics Flash Facts
2097
glycolysis; FA synthesis; HMP shunt; protein synthesis
(RER); steroid synthesis (SER)
Genetics Flash Facts
2098
Q1050:What metabolic processes occur in both the
mitochondria and the cytoplasm?
Genetics Flash Facts
2099
Gluconeogenesis; urea cycle; heme synthesis
Genetics Flash Facts
2100
Q1051:Regeneration of methionine (and thus S-adenosyl-
methionine/SAM) is dependent on what factor?
Genetics Flash Facts
2101
B12
Genetics Flash Facts
2102
Q1052:What three enzymes are associated with respiratory
burst in the phagolysosome?
Genetics Flash Facts
2103
NADPH oxidase;Superoxide dismutase;Myeloperoxidase
Genetics Flash Facts
2104
Q1053:What three enzymes are associated with oxidative
burst in the neutrophil?
Genetics Flash Facts
2105
Catalase/glutathione peroxidase;Glutathione reductase;G6PD
Genetics Flash Facts
2106
Q1054:Fructose intolerance is an inherent deficiency of what
enzyme?
Genetics Flash Facts
2107
aldolase B
Genetics Flash Facts
2108
Q1055:What metabolic processes are inhibited from a fructose
deficiency?
Genetics Flash Facts
2109
glyogenolysis and gluconeogenesis
Genetics Flash Facts
2110
Q1056:What are the symptoms of fructose intolerance?
Genetics Flash Facts
2111
hypoglycemia; jaundice; cirrhosis; vomiting
Genetics Flash Facts
2112
Q1057:What is the treatment for fructose intolerance?
Genetics Flash Facts
2113
decrease intake of fructose and sucrose (glucose and fructose)
Genetics Flash Facts
2114
Q1058:the appearance of fructose in the blood or urine is due
to a defect in what enzyme? What is the px?
Genetics Flash Facts
2115
fructokinase; the condition in benign and asymptomatic
Genetics Flash Facts
2116
Q1059:Galactosemia is caused by the absence of what
enzyme?
Genetics Flash Facts
2117
galactose-1-phosphate uridyltransferase
Genetics Flash Facts
2118
Q1060:What is the inheritance pattern and sx of galactosemia?
Genetics Flash Facts
2119
AR; cataracts; hepatosplenomegally; mental retardation
Genetics Flash Facts
2120
Q1061:Lactase deficiency is due to a loss of the enzyme from
what area of the body?
Genetics Flash Facts
2121
Brush border
Genetics Flash Facts
2122
Q1062:What are the symptoms of lactase deficiency?
Genetics Flash Facts
2123
bloating; cramps; osmotic diarrhea
Genetics Flash Facts
2124
Q1063:Which are the essential amino acids?
Genetics Flash Facts
2125
Leu; Lys; Ile; Phe; Trp; Met; Thr; Val; Arg; His
Genetics Flash Facts
2126
Q1064:Which two essential amino acids are increased in
histones which bind negatively charged DNA?
Genetics Flash Facts
2127
Arg; Lys
Genetics Flash Facts
2128
Q1065:What is the direct effect of excess NH4
(hyperammonemia) on metabolism?
Genetics Flash Facts
2129
depletes a-ketoglutarate -> inhibition of the TCA cycle
Genetics Flash Facts
2130
Q1066:What is the treatment for hyperammonenmia?
Genetics Flash Facts
2131
Arginine
Genetics Flash Facts
2132
Q1067:What are the signs of ammonia intoxication?
Genetics Flash Facts
2133
tremor; slurring of speech; somnolence; vomiting; cerebral
edema; blurring of vision
Genetics Flash Facts
2134
Q1068:What is the fnxn of the urea cycle?
Genetics Flash Facts
2135
to degrade amino acids into amino groups
Genetics Flash Facts
2136
Q1069:What are the 8 main players in the urea cycle?
Genetics Flash Facts
2137
Ornithine; Carbamoyl; Citruline; Aspartate;
Argininosuccinate; Fumarate; Arginine; Urea;Ordinarily
Careless; Crappers Are Also Frivolous About Urination
Genetics Flash Facts
2138
Q1070:What are the main derivatives of Phenylalanine?
Genetics Flash Facts
2139
Tyrosine;Dopamine;NE ;EPI
Genetics Flash Facts
2140
Q1071:What are the main derivatives of Tryptophan?
Genetics Flash Facts
2141
Niacin (NAD/NADP);Serotonin;Melatonin
Genetics Flash Facts
2142
Q1072:What are the main derivatives of Histidine?
Genetics Flash Facts
2143
Histamine
Genetics Flash Facts
2144
Q1073:What are the main derivatives of Glycine?
Genetics Flash Facts
2145
Heme
Genetics Flash Facts
2146
Q1074:What are the main derivatives of Arginine?
Genetics Flash Facts
2147
Creatine;Urea;NO
Genetics Flash Facts
2148
Q1075:What are the main derivatives of glutamate?
Genetics Flash Facts
2149
GABA
Genetics Flash Facts
2150
Q1076:What enzyme is decreased in PKU?
Genetics Flash Facts
2151
phenylalanine hydroxylase (or tetrahydrobiopterin cofactor)
Genetics Flash Facts
2152
Q1077:What is the treatment for PKU?
Genetics Flash Facts
2153
Decrease phenylalanine and increase tyrosine
Genetics Flash Facts
2154
Q1078:Alkaptonuria is caused by a deficiency of what
enzyme?
Genetics Flash Facts
2155
homogentisic acid oxidase (alkapton bodies cause urine to turn
black when standing)
Genetics Flash Facts
2156
Q1079:Abinism is a congenital deficiency in what two
factors?
Genetics Flash Facts
2157
Either tyrosinase or defective tyrosine transporters
Genetics Flash Facts
2158
Q1080:Albinism exhibits variable inheritance due to what
mechanism?
Genetics Flash Facts
2159
locus heterozygosity
Genetics Flash Facts
2160
Q1081:What is the inheritance pattern for all three forms of
homocystinuria?
Genetics Flash Facts
2161
AR
Genetics Flash Facts
2162
Q1082:What are the three forms of homocystinuria?
Genetics Flash Facts
2163
1. cystathionine synthase deficiency;2. decreased affinity of
cystathionine synthase for pyridoxal phosphate;3. methionine
synthase deficiency
Genetics Flash Facts
2164
Q1083:Cystinuria is a common inherited defect of;
Genetics Flash Facts
2165
the renal tubular amino acid transporter for cystine; ornithine;
lysine; and arginine
Genetics Flash Facts
2166
Q1084:What can be a sequellae of excess cystine in the urine?
Genetics Flash Facts
2167
cystine kidney stones
Genetics Flash Facts
2168
Q1085:What is the treatment for cystinuria?
Genetics Flash Facts
2169
acetazolamide (alkalinize the urine)
Genetics Flash Facts
2170
Q1086:Maple syrup urine disease is caused by a decrease in
which enzyme?
Genetics Flash Facts
2171
a-ketoacid dehydrogenase
Genetics Flash Facts
2172
Q1087:Which amino acids canno be degraded in maple syrup
urine disease?
Genetics Flash Facts
2173
Ile; Leu; Val;I Love Vermont maple syrup
Genetics Flash Facts
2174
Q1088:What is codominance?
Genetics Flash Facts
2175
Neither of two alleles is dominant (e.g. blood groups)
Genetics Flash Facts
2176
Q1089:What is variable expression?
Genetics Flash Facts
2177
nature and severity of the phenotype varies from 1 individual
to another
Genetics Flash Facts
2178
Q1090:What is incomplete penetrance?
Genetics Flash Facts
2179
Not all individuals with a mutant genotype show the mutant
phenotype
Genetics Flash Facts
2180
Q1091:What is pleiotropy?
Genetics Flash Facts
2181
1 gene has > 1 effect on an individual's phenotype
Genetics Flash Facts
2182
Q1092:What is imprinting?
Genetics Flash Facts
2183
At a single locus; only one allele is active; the other is inactive
(methylation).Differneces in phenotype depend on whether
the mutation is of maternal or paternal origin (e.g. Prader-Willi
= paternal)
Genetics Flash Facts
2184
Q1093:What is anticipation?
Genetics Flash Facts
2185
Severity of disease worsens or age of onset of disease is earlier
in succeeding generations (e.g. Huntington's)
Genetics Flash Facts
2186
Q1094:What is loss of heterozygosity?
Genetics Flash Facts
2187
If a patient inherits or develops a mutation in a tumor
suppressor gene; the complementary allele must be
deleted/mutated before the cancer develops (NOT true of
oncogenes)
Genetics Flash Facts
2188
Q1095:What is a dominant negative mutation?
Genetics Flash Facts
2189
exerts a dominant effect. A heterozygote produces a
nonfunctional altered protein that also prevents the normal
gene product from functioning
Genetics Flash Facts
2190
Q1096:What is linkage disequilibrium?
Genetics Flash Facts
2191
tendency for certain alleles at 2 linked loci to occur together
more often than expected by chance. Measured in a
population; not in a family; and often varies in different
populations
Genetics Flash Facts
2192
Q1097:What is mosacism?
Genetics Flash Facts
2193
when cells in the body have different genetic makeup
(e.g.lyonization--random X inactivation in females)
Genetics Flash Facts
2194
Q1098:What is locus heterogeneity?
Genetics Flash Facts
2195
Mutations at different loci can produce the same phenotype
Genetics Flash Facts
2196
Q1099:If a population is in Hardy-weinberg equilibrium; how
do you measure allele prevalence?
Genetics Flash Facts
2197
p^2 + 2pq + q^2 = 1; p and q are separate alleles and 2pq is
the prevalence of heterozygotes
Genetics Flash Facts
2198
Q1100:If a population is in Hardy-weinberg equilibrium; how
do you measure allele prevalence?
Genetics Flash Facts
2199
p + q = 1
Genetics Flash Facts
2200
Q1101:What are the 4 assumptions of Hardy-Weinberg law?
Genetics Flash Facts
2201
1. no mutation; 2. no selection for any of the genotypes at a
locus; 3. Random mating; 4. no migration into or out of a
population
Genetics Flash Facts
2202
Q1102:In Prader-Willi; whose normally active allele is deleted
(maternal or paternal)?
Genetics Flash Facts
2203
Paternal (opposite for angelman's)
Genetics Flash Facts
2204
Q1103:What are some of the features of autosomal dominant
inheritance?
Genetics Flash Facts
2205
many generations affected; both male and female; often
pleiotropic; present after puberty
Genetics Flash Facts
2206
Q1104:What are some of the features of autosomal recessive
inheritance?
Genetics Flash Facts
2207
25% of offspring from 2 carrier parents affected; due to
enzyme deficiencies; usually only seen in 1 generation; more
severe than AD; presents in childhood
Genetics Flash Facts
2208
Q1105:What are some of the features of X-linked recessive
inheritance?
Genetics Flash Facts
2209
Sons of heterozygous mothers have a 50% chance; commonly
more severe in males but heterozygous females may be
affected
Genetics Flash Facts
2210
Q1106:What are some of the features of X-linked dominant
inheritance?
Genetics Flash Facts
2211
transmitted through both parents; ALL female offspring of an
affected father will be diseased (either male of female from
mother); hypophosphatemic rickets
Genetics Flash Facts
2212
Q1107:What are some of the features of mitochondrial
inheritance?
Genetics Flash Facts
2213
transmitted only through mother; all offspring of affected
mother show disease; Leber's hereditary optic neuropathy
Genetics Flash Facts
2214
Q1108:Mode of inheritance and major features: APKD
Genetics Flash Facts
2215
AD; always bilateral; mutation in APKD1 (Chr 16); berry
aneurysms; mitral valve prolapse (juvie form is recessive)
Genetics Flash Facts
2216
Q1109:Mode of inheritance and major features: familial
hypercholesterolemia
Genetics Flash Facts
2217
AD; elevated LDL from a defective or absent LDL receptor;
severe atherosclerosis disease at young age; tendon xanthomas
(achilles); may have MI before age 20
Genetics Flash Facts
2218
Q1110:Mode of inheritance and major features: Marfan's
Syndrome
Genetics Flash Facts
2219
AD; fibrilin gene mutation = connective tissue disorders; tall;
aortic incomptenece and dissecting aortic aneurysms; floppy
mitral valve
Genetics Flash Facts
2220
Q1111:Mode of inheritance and major features:
Neurofibromatosis; type 1
Genetics Flash Facts
2221
AD long arm of chr. 17; café-au-lait spots; neural tumors;
Lisch nodules (pigmented iris hamartomas); pheo's
Genetics Flash Facts
2222
Q1112:Mode of inheritance and major features:
Neurofibromatosis; type 2
Genetics Flash Facts
2223
AD; bilateral acoustic neuroma; juvenile cataracts; NF2 gene
on chr 22 (type 2 = 22)
Genetics Flash Facts
2224
Q1113:Mode of inheritance and major features: tuberous
sclerosis
Genetics Flash Facts
2225
AD; facial lesions (adenoma sebaceum); hypopigmented "ash
leaf spots" on skin; cardiac rhabdomyomas; incomplete
penetrance/variable presentation
Genetics Flash Facts
2226
Q1114:Mode of inheritance and major features: von Hippel-
Lindau dz (VHL)
Genetics Flash Facts
2227
AD; hemangioblastomas of the retina/cerebellum/medulla;
50% develop multiple bilateral renal cell carcinomas; deletion
of VHL gene on Chr 3 (three words for Chr 3)
Genetics Flash Facts
2228
Q1115:Mode of inheritance and major features: Huntington's
Genetics Flash Facts
2229
AD; triplet repeat disorder on chr 4; depression; progressive
dementia; choreiform movements; caudate atrophy; decreased
levels of GABA and ACh in brain
Genetics Flash Facts
2230
Q1116:Mode of inheritance and major features: Familial
adenomatus polyposis
Genetics Flash Facts
2231
AD; progresses to colon cancer unless resected; Deletion on
chr. 5 (5 letters in polyp)
Genetics Flash Facts
2232
Q1117:Mode of inheritance and major features: Hereditary
spherocytosis
Genetics Flash Facts
2233
AD; spheroid erythrocytes; hemolytic anemia; increases
MCHC; splenectomy is curative
Genetics Flash Facts
2234
Q1118:Mode of inheritance and major features:
Achondroplasia
Genetics Flash Facts
2235
AD; cell-signalling defect of fibroblast growth factor (FGF)
receptor 3; dwarfism (short limbs but head and truck are
normal size); associated with advanced PATERNAL age
Genetics Flash Facts
2236
Q1119:What gene is defective in cystic fibrosis?
Genetics Flash Facts
2237
CFTR on chromosome 7
Genetics Flash Facts
2238
Q1120:What are the typical manifestations of a pt with CF?
Genetics Flash Facts
2239
recurrent pulmonary infections; infertility in males (absent
vas deferens); fat soluble vitamin deficiencies
Genetics Flash Facts
2240
Q1121:What is the treatment for CF?
Genetics Flash Facts
2241
n-acetylcysteine to loosen mucous plugs
Genetics Flash Facts
2242
Q1122:What are the typical X-linked recessive disorders?
Genetics Flash Facts
2243
Bruton's agammaglobulinemia; Fragile X; G6PD deficiency;
ocular albinism; Lesch-Nyhan; Duchenne's; Hemophilia A and
B; Fabry's dz; Hunter's syndrome
Genetics Flash Facts
2244
Q1123:Duchenne's MD is caused by what type of genetic
mutation?
Genetics Flash Facts
2245
Frame shift leading to deletion of the dystrophin gene
Genetics Flash Facts
2246
Q1124:What movement is a diagnostic sign of Duchenne's
MD?
Genetics Flash Facts
2247
Gower's maneuver
Genetics Flash Facts
2248
Q1125:What is the less severe form of duchenne's MD?
Genetics Flash Facts
2249
Becker's
Genetics Flash Facts
2250
Q1126:What is the 2nd most common cause of genetic mental
retardation after Down's?
Genetics Flash Facts
2251
Fragile X syndrome
Genetics Flash Facts
2252
Q1127:What are the clinical features of Fragile X syndrome?
Genetics Flash Facts
2253
macro-orchidism; long face with a large jaw; large everted ears;
autism
Genetics Flash Facts
2254
Q1128:What type of disorder is Fragile X?
Genetics Flash Facts
2255
Triple repeat (CGG) - may show anticipation
Genetics Flash Facts
2256
Q1129:What are the trinucleotide repeat diseass?
Genetics Flash Facts
2257
Huntington's; myotonic dystrophy; Friedreich's ataxia; Fragile
X
Genetics Flash Facts
2258
Q1130:What are the three autosomal trisomies and which
chr's are affected?
Genetics Flash Facts
2259
Down's (21); Edward's (18); Patau (13)
Genetics Flash Facts
2260
Q1131:What are the prenatal signs of Down's?
Genetics Flash Facts
2261
decreased a-fetoprotein; increased b-hCG; increased nuchal
translucency
Genetics Flash Facts
2262
Q1132:Pts with Down's are at risk of developing what
neurological disorder?
Genetics Flash Facts
2263
early-onset Alzheimer's
Genetics Flash Facts
2264
Q1133:95% of Down's cases are due to what problem in
meiosis? What is the associated parental "problem"?
Genetics Flash Facts
2265
meiotic nondisjunction of homologous chromosomes;
associated with advanced maternal age
Genetics Flash Facts
2266
Q1134:Cri-du-chat is associated with what chromosomal
abnormality?
Genetics Flash Facts
2267
congenital deletion of short arm of chr 5
Genetics Flash Facts
2268
Q1135:22q11 syndromes are associted with what
signs/symptoms?
Genetics Flash Facts
2269
cleft papate; abnormal facies; thymic aplasia (t-cell
deficiency); cardiac defects; hypocalcemia 2' to parathyroid
aplasia; variable presentation as DiGeorge
Genetics Flash Facts
2270
Q1136:When are the risks for fetal alcohol syndrome the
greatest?
Genetics Flash Facts
2271
3-8 weeks
Genetics Flash Facts
2272
Q1137:What is the #1 cause of congenital malformations in
the US?
Genetics Flash Facts
2273
Fetal Alcohol Syndrome
Genetics Flash Facts
2274
Q1138:DNA polymerase III vs I
Genetics Flash Facts
2275
III--5'->3' synthesis; 3'->5' exonuclease (proofread); I--
degrades RNA primer (5'->3' exonuclease); fills in gap
w/DNA
Genetics Flash Facts
2276
Q1139:nucleotide excision repair vs base excision repair
Genetics Flash Facts
2277
nuc--releases damaged OLIGOnucleotides (ex; in XP); base--
specific glycosylases recognize and remove damaged BASES
Genetics Flash Facts
2278
Q1140:alpha-amanitin
Genetics Flash Facts
2279
poison from a mushroom; inhibits euk RNA pol II (mRNA);
initially GI problems; rapidly results in death
Genetics Flash Facts
2280
Q1141:different RNAs of the euk RNA polymerases
Genetics Flash Facts
2281
RNA pol I--rRNA; RNA pol ii--mRNA; RNA pol III--tRNA
Genetics Flash Facts
2282
Q1142:mRNA stop codons
Genetics Flash Facts
2283
UGA; UAG; UAA
Genetics Flash Facts
2284
Q1143:site where negative gene expression regulators bind
Genetics Flash Facts
2285
operator
Genetics Flash Facts
2286
Q1144:amino acid binds to which end of tRNA?
Genetics Flash Facts
2287
3' end (CCA end)
Genetics Flash Facts
2288
Q1145:I cell dz
Genetics Flash Facts
2289
failure of addition of mannose-6-phosphate to lysosome
enzymes-->enzymes secreted outside cell; get coarse facial
features; clouded corneas; restricted jnt movement; high
plasma lysosomal enzymes; often fatal in childhood
Genetics Flash Facts
2290
Q1146:vesicular trafficking protein--COPI-->
Genetics Flash Facts
2291
retrograde; Golgi->ER
Genetics Flash Facts
2292
Q1147:vesicular trafficking protein COPII--> ?
Genetics Flash Facts
2293
anterograde; RER->cis-Golgi
Genetics Flash Facts
2294
Q1148:vesicular trafficking protein clathrin--> ?
Genetics Flash Facts
2295
trans-Golig-> lysosome; plasma membrane-> endosomes
Genetics Flash Facts
2296
Q1149:type III collagen
Genetics Flash Facts
2297
reticulin; in skin; blood vessels; uterus; fetal tissue;
granulation tissue. Most common type of Ehrlos-Danlers
involves this
Genetics Flash Facts
2298
Q1150:type IV collagen found where?
Genetics Flash Facts
2299
basement membrane; basal lamina
Genetics Flash Facts
2300
Q1151:steps of collagen synthesis
Genetics Flash Facts
2301
1. synthesis of preprocollagen (rER); 2. hydroxylation (ER;
requires vit C); 3. glycosylation (Golgi); 4. exocytosis (still as
procollagen); 5. proteolytic processing (tropocollagen); 6.
crosslinking (lysyl oxidase; collagen fibrils)
Genetics Flash Facts
2302
Q1152:which type of osteogenesis imperfecta is fatal in utero
or in neonate?
Genetics Flash Facts
2303
type II
Genetics Flash Facts
2304
Q1153:vimentin stains?
Genetics Flash Facts
2305
connective tissue
Genetics Flash Facts
2306
Q1154:desmin stains?
Genetics Flash Facts
2307
muscle
Genetics Flash Facts
2308
Q1155:cytokeratin stains?
Genetics Flash Facts
2309
epithelial cells
Genetics Flash Facts
2310
Q1156:all enzymes except 1 of TCA are WHERE and
where/what is the exception?
Genetics Flash Facts
2311
all but succinate DH are in mitochondrial MATRIX; succinate
DH is in inner mitochondrial membrane (along with ETC)
Genetics Flash Facts
2312
Q1157:irreversible enzymes in gluconeogenesis (4)
Genetics Flash Facts
2313
pyruvate carboxylase (mit; pyruvate->oxaloacetate); PEP
carboxykinase (cyt; oxalo->PEP); F1;6BPase (cyt; F1;6BP-
>F6P); G6Pase (er; G6P->glucose)
Genetics Flash Facts
2314
Q1158:most potent activator of PFK? (rate limiter of
glycolysis)
Genetics Flash Facts
2315
F2;6BP (overrides inhibition by ATP; citrate)
Genetics Flash Facts
2316
Q1159:what are the only purely ketogenic amino acids?
Genetics Flash Facts
2317
lysine; leucine
Genetics Flash Facts
2318
Q1160:how much ATP produced per acetyl CoA in TCA
cycle?
Genetics Flash Facts
2319
12 (3/NADH; 2/FADH2; 1/GTP)
Genetics Flash Facts
2320
Q1161:what is rotenone
Genetics Flash Facts
2321
fish poison that complexes with NADH DH (complex I of
ETC); NADH accumulates; but can still get electrons into
ETC from FADH2
Genetics Flash Facts
2322
Q1162:what is antimycin A?
Genetics Flash Facts
2323
abx that blocks passage of electrons through cytochrome b-c1
complex (ETC)
Genetics Flash Facts
2324
Q1163:why is cyanide poisonous?
Genetics Flash Facts
2325
combines with cytochrome oxidase and blocks electrons->O2
in ETC; (CO does this also)
Genetics Flash Facts
2326
Q1164:what is dinitrophenol (2;4DNP)?
Genetics Flash Facts
2327
ionophore that uncouples ETC
Genetics Flash Facts
2328
Q1165:what is the enzyme of the irrerversible/oxidative
reaction of PPP (HMP shunt)?
Genetics Flash Facts
2329
glucose phosphate DH
Genetics Flash Facts
2330
Q1166:what is the enzyme of the reversible/nonoxidative
reaction in PPP (HMP shunt)?
Genetics Flash Facts
2331
transketolase (requires thiamine)
Genetics Flash Facts
2332
Q1167:essential fructosuria
Genetics Flash Facts
2333
defect in fructokinase (F->F1P); however; this is benign and
asymptomatic; only get fructose in blood and urine
Genetics Flash Facts
2334
Q1168:aldolase B deficiency--> ?
Genetics Flash Facts
2335
(AR) fructose intolerance; F1P accumulates and decreases
available phosphate. This inhibits glycogenolysis;
gluconeogenesis; get hypoglycemia; jaundice; cirrhosis;
vomiting
Genetics Flash Facts
2336
Q1169:which 5 essential amino acids are glucogenic?
Genetics Flash Facts
2337
met; thr; val; arg; his;(Argh; This Here Mnemonic is Vile)
Genetics Flash Facts
2338
Q1170:which essential amino acids are glucogenic and
ketogenic?
Genetics Flash Facts
2339
Ile; Phe; Trp
Genetics Flash Facts
2340
Q1171:Phe is precursor for?
Genetics Flash Facts
2341
tyrosine; thyroxine; DOPA; melanin; DA; NE; Epi
Genetics Flash Facts
2342
Q1172:Tryptophan is precursor for?
Genetics Flash Facts
2343
niacin; serotonin; melatonin
Genetics Flash Facts
2344
Q1173:glycine is precursos for?
Genetics Flash Facts
2345
porphyrin; (succinyl CoA+ glycine-> ALA; via ALA
synthetase)
Genetics Flash Facts
2346
Q1174:arginine is precursor for?
Genetics Flash Facts
2347
creatine; NO; urea
Genetics Flash Facts
2348
Q1175:glutamate is precursor for?
Genetics Flash Facts
2349
GABA; your mom
Genetics Flash Facts
2350
Q1176:cystinuria is inherited defect for renal transport of
which amino acids?
Genetics Flash Facts
2351
cystine; ornithine; lysine; arginine
Genetics Flash Facts
2352
Q1177:which GLUT is insulin responsive?
Genetics Flash Facts
2353
GLUT 4 (adipose; sk mm)
Genetics Flash Facts
2354
Q1178:which GLUT is in RBCs; brain?
Genetics Flash Facts
2355
GLUT 1
Genetics Flash Facts
2356
Q1179:GLUT 2 is where?
Genetics Flash Facts
2357
beta islet cells; liver; kidney
Genetics Flash Facts
2358
Q1180:which enzyme affected in a)Pb poisoning b) AIP c)
PCT
Genetics Flash Facts
2359
a)ferrochelatase; ALA dehydrase; b) porphobilinogen
deaminase (formerly known as: uroporphyrinogen I
synthase); c) uroporphyrinogen decarboxylase
Genetics Flash Facts
2360
Q1181:Full term neonate of uneventful delivery becomes
mentally retarded and hyperactive and has musty odor;WHat
is the diagnosis
Genetics Flash Facts
2361
PKU
Genetics Flash Facts
2362
Q1182:Stressed executive comes home from work consumes 7
or 8 martinis in rapid succession before dinner and becomes
hypoglycemic;WHat is the mechanism
Genetics Flash Facts
2363
NADH increase prevents gluconeogenesis by shunting
pyruvate and oxaloacetate to lactate and malate
Genetics Flash Facts
2364
Q1183:2 year old girl has increase in abdominal girth; failure
to thrive and skin and hair depigmentation - what is the
diagnosis
Genetics Flash Facts
2365
Kwashiorkor
Genetics Flash Facts
2366
Q1184:Alcoholic develops rash; diarrhea and altered mental
status;What is the vitamin defficiency
Genetics Flash Facts
2367
B3 (pellagra)
Genetics Flash Facts
2368
Q1185:20 year old male presents with idiopathic
hyperbillirubinemia;WHat is the most common cause
Genetics Flash Facts
2369
Gilberts syndrome
Genetics Flash Facts
2370
Q1186:51 year old man has black spots on his sclera and has
noted that urine turns black when he is standing
Genetics Flash Facts
2371
Alkaptonuria
Genetics Flash Facts
2372
Q1187:25 year old complains of chest pains and has
xanthoma of Achilles tendon;What is his disease and where is
the defect
Genetics Flash Facts
2373
Familial hypercholesterolemia; lDL receptor
Genetics Flash Facts
2374
Q1188:Condensed by negatively charged DNA looped twice
around positively charged H2a; H2b; H3 and H4 histones
(nucleosome bead)
Genetics Flash Facts
2375
Chromatin
Genetics Flash Facts
2376
Q1189:_ ties nucleosomes together in a string (30 nm fiber)
Genetics Flash Facts
2377
H1 histone
Genetics Flash Facts
2378
Q1190:Condensed; transcriptionally inactive chromatin
Genetics Flash Facts
2379
Heterochromatin
Genetics Flash Facts
2380
Q1191:Less condensed; transcriptionally active chromatin
Genetics Flash Facts
2381
Euchromatin
Genetics Flash Facts
2382
Q1192:Name purines
Genetics Flash Facts
2383
A; G;PURe As Gold
Genetics Flash Facts
2384
Q1193:Name pyrimidines
Genetics Flash Facts
2385
C; T; U;CUT Pye
Genetics Flash Facts
2386
Q1194:Which nucleotides have two rings?
Genetics Flash Facts
2387
Purines
Genetics Flash Facts
2388
Q1195:WHich nucleotides have one ring?
Genetics Flash Facts
2389
Pyrimidines
Genetics Flash Facts
2390
Q1196:Which nucleotide has a ketone
Genetics Flash Facts
2391
guanine
Genetics Flash Facts
2392
Q1197:Which nucleotide has methyl
Genetics Flash Facts
2393
thymine
Genetics Flash Facts
2394
Q1198:Deamination of cytosine makes _
Genetics Flash Facts
2395
Uracyl
Genetics Flash Facts
2396
Q1199:Uracil is found in _ ;Thymine is found in _
Genetics Flash Facts
2397
Uracil - RNA;Thymine - DNA
Genetics Flash Facts
2398
Q1200:Which bond is stronger GC or AT
Genetics Flash Facts
2399
GC (3 H bonds); AT is weaker (2 H bonds)
Genetics Flash Facts
2400
Q1201:If GC content is increased what happens to melting
temperature
Genetics Flash Facts
2401
Increases
Genetics Flash Facts
2402
Q1202:Nucleotides are linked by _
Genetics Flash Facts
2403
3-5 phosphodiesterase bond
Genetics Flash Facts
2404
Q1203:Substituting purine for purine or pyrimidine for
pyrimidine is called ?
Genetics Flash Facts
2405
TransItion (identical)
Genetics Flash Facts
2406
Q1204:Substituting purine for pyrimidine or vice versa
Genetics Flash Facts
2407
TransVersion (conVersion between types)
Genetics Flash Facts
2408
Q1205:4 features of genetic code
Genetics Flash Facts
2409
Unambiguous (each codon for only one amino
acid);Degenerate (more then one codon can code for same
amino acid);COmmaless; nonoverlapping;Universal
Genetics Flash Facts
2410
Q1206:Name type of mutation - same amino acid; often base
change in 3d position of codon tRNA wobble)
Genetics Flash Facts
2411
Silent mutation
Genetics Flash Facts
2412
Q1207:Name type of mutation - changed amino acid
(conservative - new amino acid is similar in chemical
structure)
Genetics Flash Facts
2413
Missence mutation
Genetics Flash Facts
2414
Q1208:Name type of mutation - change resulting in early stop
codon
Genetics Flash Facts
2415
Nonsense mutation
Genetics Flash Facts
2416
Q1209:Name type of mutation - change resulting in
misreading of all nucleotides downstream; usually resulting in
a truncated protein
Genetics Flash Facts
2417
Frameshift mutation
Genetics Flash Facts
2418
Q1210:In prokaryotic replication; is there single or multiple
origins of replication
Genetics Flash Facts
2419
Single origin of replication - continuous DNA synthesis on
leading strand and discontinuous (okazaki fragments) on
lagging strand
Genetics Flash Facts
2420
Q1211:What is the role of primase in prokaryotic replication
Genetics Flash Facts
2421
Primase makes RNA PRIMER on which DNA polymerase
III can initiate replication
Genetics Flash Facts
2422
Q1212:Elongates the chain by adding deoxynucleotides to the
3 end until it reaches primer of preceding fragment
Genetics Flash Facts
2423
DNA polymerase III
Genetics Flash Facts
2424
Q1213:Name enzyme that degrades RNA primer
Genetics Flash Facts
2425
5'-3' exonuclease activity of DNA polymerase I
Genetics Flash Facts
2426
Q1214:Has 5'-3' synthesis and proofreads with 3'-5'
exonuclease
Genetics Flash Facts
2427
DNA polymerase III
Genetics Flash Facts
2428
Q1215:Create a nick in the helix to relieve supercoils
Genetics Flash Facts
2429
DNA topoisomerases
Genetics Flash Facts
2430
Q1216:Name DNA repair defects
Genetics Flash Facts
2431
Xeroderma pigmentosum (skin sensitivity to UV
light);Ataxia-telangiectasia (x rays);Blooms syndrome
(radiation);Fanconis anemia (cross linking agents)
Genetics Flash Facts
2432
Q1217:Defective excision repair such as uvr ABC
endonuclease. Results in inability to repair thymidine dimers;
which form in DNA when exposed to UV light;Associated
with dry skin and with melanoma and other
cancers;Inheritance pattern
Genetics Flash Facts
2433
Xeroderma pigmentosum;Autosomal recessive
Genetics Flash Facts
2434
Q1218:In which direction is Dna and RNA synthesized
Genetics Flash Facts
2435
5'-->3'
Genetics Flash Facts
2436
Q1219:Chromatin Structure
Genetics Flash Facts
2437
negatively charged DNA wrapped around a histone (H2A;
H2B; H3; H4); connected by H1;Condensed = hetero-;
inactive;Less condensed = eu-; active
Genetics Flash Facts
2438
Q1220:Nucleotides
Genetics Flash Facts
2439
Purines (A; G) large rings;Pyrimidines (C; U; T) small
rings;PURe As Gold;CUT the PY (pie)
Genetics Flash Facts
2440
Q1221:Eukaryotic DNA polymerases
Genetics Flash Facts
2441
alpha - replicates lagging strand; synthesizes RNA
primer;beta - repairs DNA;gamma - replicates mitochondrial
DNA;delta - replicates leading strand;epsilon - repairs DNA
Genetics Flash Facts
2442
Q1222:DNA repair process
Genetics Flash Facts
2443
endonuclease cleaves strand upstream;exonuclease clease
strand downstream;DNA polymerase Beta fills gap
Genetics Flash Facts
2444
Q1223:DNA repair defects lead to disease
Genetics Flash Facts
2445
Xeroderma Pigmentosum (UV light);Ataxia-Telangiectasia (X-
rays) ;Bloom's syndrome (radiation);Fanconi's anemia
(crosslinking agents)
Genetics Flash Facts
2446
Q1224:Eukaryotic RNA polymerases
Genetics Flash Facts
2447
polymerase I - rRNA;polymerase II - mRNA;
snRNPs;polymerase III - tRNA;no proofreading;alpha-
amanitin inhibits poly II
Genetics Flash Facts
2448
Q1225:Start and Stop Codons
Genetics Flash Facts
2449
Start;AUG (Are U Going?);Stop;UGA (U Go Away);UAA
(U Are Away);UAG (U Are Gone)
Genetics Flash Facts
2450
Q1226:Regulation of Gene Expression
Genetics Flash Facts
2451
Promoter - where RNA polymerase/transcription factors bind
upstream;TATA (25 bp upstream);CAAT (70 bp
upstream);Enchancer - where transcription factors bind to
increase expression
Genetics Flash Facts
2452
Q1227:RNA processing
Genetics Flash Facts
2453
1. 5' 7-methyl-guanine cap;stability; mediates translation;2. 3'
Polyadenylation;stability; mediates nuclear export;3. Splicing
out introns;for fun?
Genetics Flash Facts
2454
Q1228:tRNA Structure
Genetics Flash Facts
2455
75-90 nucleotides;anticodon end is opposite 3' aminoacyl ;3'
CCA sequence;chemically modified bases
Genetics Flash Facts
2456
Q1229:tRNA charging
Genetics Flash Facts
2457
aminoacyl-tRNA synthetase ;adds 1 aa to 3' end; using 1
ATP;proofreading capability
Genetics Flash Facts
2458
Q1230:tRNA wobble
Genetics Flash Facts
2459
allows many codons to match one tRNA with only the first
two bases of it's anticodon
Genetics Flash Facts
2460
Q1231:PCR
Genetics Flash Facts
2461
ligate/denature DNA;add premade specific probes;add heat-
stable DNA polymerase;repeat until DNA sequence is
amplified
Genetics Flash Facts
2462
Q1232:Molecular Biology Techniques
Genetics Flash Facts
2463
Southern - DNA probe to find DNA;Northern - DNA probe
to find RNA;Western - Ab probe to find
protein;Southwestern - DNA probe for TFs
Genetics Flash Facts
2464
Q1233:ELISA
Genetics Flash Facts
2465
labeled Ab/Ag to Ag/Ab in pt sample;used in HIV;Sn = Sp =
~100%
Genetics Flash Facts
2466
Q1234:Inheritance Modes
Genetics Flash Facts
2467
Auto Dom - structural genes;M/F affected equally;presents
after puberty;Auto Rec - 25% offspring of carriers;enzyme
deficiencies;present in childhood;X-link Rec - 50% sons of
hetero mom;X-link Dom - all F kids of sick dad ;M/F kids of
sick mom;hypophosphatemic rickets;Mitochondrial -
transmitted by mom;all kids may show dz;leber's hereditary
optic neuropathy;mitchondrial myopathies
Genetics Flash Facts
2468
Q1235:Variable expression
Genetics Flash Facts
2469
nature and severity of phenotype varies from one pt to
another
Genetics Flash Facts
2470
Q1236:Incomplete penetrance
Genetics Flash Facts
2471
Not all individuals with mutant genotype show dz phenotype
Genetics Flash Facts
2472
Q1237:Pleiotropy
Genetics Flash Facts
2473
one gene has greater than one effect on phenotype
Genetics Flash Facts
2474
Q1238:Imprinting
Genetics Flash Facts
2475
Differences in phenotype depend on whether the mutation is
of maternal or paternal origin;Angelmans - maternal
transmission;Prader-Willi - paternal transmission
Genetics Flash Facts
2476
Q1239:Anticipation
Genetics Flash Facts
2477
Severity of disease worsens or age of onset decreases in
successive generations
Genetics Flash Facts
2478
Q1240:Loss of heterozygosity
Genetics Flash Facts
2479
if a pt inherits or develops a mutation in a tumor suppressor
gene; the complementary allele must be deleted/mutated
before cancer develops (not true of oncogenes)
Genetics Flash Facts
2480
Q1241:Dominant negative mutation
Genetics Flash Facts
2481
exerts a dominant effect because the body cannot produce
enough of the normal gene product with only one functioning
allele or presence of the altered gene product inhibits the
normal product
Genetics Flash Facts
2482
Q1242:Linkage disequilibrium
Genetics Flash Facts
2483
two alleles at linked loci occur together more often than
probability would suggest.
Genetics Flash Facts
2484
Q1243:Hardy Weinberg population genetics
Genetics Flash Facts
2485
assumes no migration; no mutation; no natural selection; no
mating preferences
Genetics Flash Facts
2486
Q1244:Down Syndrome
Genetics Flash Facts
2487
mental and growth retardation;trisomy 21;tested with
karyotyping;1:800;increased risk with maternal age;decreased
AFP in amniotic fluid;polyhydramnios
Genetics Flash Facts
2488
Q1245:Fragile X
Genetics Flash Facts
2489
mental retardation;characteristic facial features;large testes;X-
linked;failure to express RNA binding protein
Genetics Flash Facts
2490
Q1246:Sickle cell anemia
Genetics Flash Facts
2491
recurrent painful crises;autosplenectomy -> imm
def;autosomal recessive;1 missense mutation in beta
globin;1:400 Af-Am
Genetics Flash Facts
2492
Q1247:Cystic fibrosis
Genetics Flash Facts
2493
recurrent pulmonary infections;exocrine pancreas
insufficiency;infertility;autosomal recessive;mutated CFTR
(Cl- channel);1/2000 whites
Genetics Flash Facts
2494
Q1248:Neurofibromatosis
Genetics Flash Facts
2495
cafe-au-lait
spots;neurofibromas;pheochromocytomas;autosomal
dominant;signaling molec loss-of-fxn mutations
Genetics Flash Facts
2496
Q1249:Duchenne's Muscular Dystrophy
Genetics Flash Facts
2497
muscular weakness and degeneration;X-linked
recessive;dystrophin gene deletion;Dx DNA
test;pseudohypertrophy of calf
Genetics Flash Facts
2498
Q1250:Osteogenesis Imperfecta
Genetics Flash Facts
2499
increased bone fx;blue sclera - translucent CT over
choroid;many mutations - abn collagen synth;1:10000
Genetics Flash Facts
2500
Q1251:Phenylketonuria
Genetics Flash Facts
2501
autosomal recessive;phenylalanine hydroxylase
deficiency;tetrahydrobiopterin cofactor deficiency;tyrosine
becomes essential;mental retardation;fair skin (decreased
melanin);eczema;musty body odor;decrease phenylalanine in
diet;increase tyrosine in diet
Genetics Flash Facts
2502
Q1252:Fabry's disease
Genetics Flash Facts
2503
X-linked recessive;alpha galactosidase deficiency;ceramide
trihexoside accumulation;renal failure;peripheral neuropathy
hands/feet;CV disease
Genetics Flash Facts
2504
Q1253:Krabbe's disease
Genetics Flash Facts
2505
Autosomal recessive;Bgalactosidase def;galactocerebroside
accumulation;optic atrophy;peripheral
neuropathy/spasticity;developmental delay
Genetics Flash Facts
2506
Q1254:Gaucher's disease
Genetics Flash Facts
2507
glucocerebrosidase def;glucocerebroside
accumulation;hepatosplenomegaly;aseptic necrosis of femoral
head;bone crises;Gaucher's cells (macrophages)
Genetics Flash Facts
2508
Q1255:Niemann-Pick disease
Genetics Flash Facts
2509
Autosomal recessive;sphingomyelinase def;sphingomyelin
accum in reticuloendothelial cells/parenchyma;leading to
organomegaly and progressive neurodegeneration;cherry red
spot on macula;No Man PICKs his nose w/ a SPHINGer
Genetics Flash Facts
2510
Q1256:Tay-Sachs disease
Genetics Flash Facts
2511
Autosomal recessive;Absence of hexosaminidase A;GM2
ganglioside accumulation;Askenazi Jews (carriers =
1/30);death by age 3;cherry red spot on macula
Genetics Flash Facts
2512
Q1257:Metachromatic Leukodystrophy
Genetics Flash Facts
2513
Autosomal recessive;arylsulfatase A deficiency;demyelination
with w/ ataxia; dementia;Cerebroside sulfate in brain; liver;
kidney; PNS
Genetics Flash Facts
2514
Q1258:Hurler's syndrome
Genetics Flash Facts
2515
Autosomal recessive;alpha-L-iduronidase deficiency;corneal
clouding;gargoylism;developmental delay;Hurlers (shot put)
do more damage than hunters (arrows)
Genetics Flash Facts
2516
Q1259:Hunter's syndrome
Genetics Flash Facts
2517
X-linked recessive;iduronate sulfatase deficiency;mild form of
Hurler's (mild retardation);with aggressive behavior;no corneal
clouding
Genetics Flash Facts
2518
Q1260:Lineweaver Burke plots
Genetics Flash Facts
2519
noncompetitive inhibitors change the Vmax (the y-intercept
will increase);competitive inhibitors change the Km (the x-
intercept will increase)
Genetics Flash Facts
2520
Q1261:Sodium Potassium Pump
Genetics Flash Facts
2521
BL membrane;moves 3 Na out; 2 K in; uses 1 ATP;inhibitied
by oubain; digoxin
Genetics Flash Facts
2522
Q1262:Collagen synthesis and structure
Genetics Flash Facts
2523
hydoxylation of proline/lysine residues in RER requires Vit
C;procollagen exocytosed into ECM;peptidases cleave
terminal portion;self-assembly into collagen fibrils;crosslinked
by lysyl oxydase
Genetics Flash Facts
2524
Q1263:Ehlers-Danlos Syndrome
Genetics Flash Facts
2525
faulty collagen synthesis causes;hyperextensible
skin;tendency to bleed;hypermobile joints
Genetics Flash Facts
2526
Q1264:S-adenosyl methionine
Genetics Flash Facts
2527
ATP + methionine = SAM;methyl group donor;makes
phosphocreatine;regeneration with B12
Genetics Flash Facts
2528
Q1265:NAD+/NADPH
Genetics Flash Facts
2529
NAD+ catabolic electron acceptor;NADPH anabolic electron
donor;product of HMP shunt;makes superoxide;regenerates
GSH;p450
Genetics Flash Facts
2530
Q1266:Glycolysis: irreversible reactions
Genetics Flash Facts
2531
glu to G6P;G6P inhibits hexokinase;F6P to
F1;6BP;ATP/citrate inhib PFK ;F2;6BP/AMP upreg
PFK;PEP to pyruvate;ATP/Ala inhib Pyr Kinase;F1;6BP
upreg Pyr Kinase;Pyr to AcetylCoA;ATP/NADH/AcylCoA
inhib Pyr DeH
Genetics Flash Facts
2532
Q1267:Pyruvate Dehydrogenase Complex
Genetics Flash Facts
2533
pyr + NAD+ + CoA -> ;AcylCoA + CO2 +NADH;3
enzymes;5 cofactors;B1 thiamine;B2 FAD;B3 NAD;B5
CoA;lipoic acid
Genetics Flash Facts
2534
Q1268:Pyruvate Dehydrogenase Deficiency
Genetics Flash Facts
2535
buildup of pyruvate and alanine;reduced to lactate ->
acidosis;seen in alcoholics in B1 deficiency;Rx: high
fat/ketogenic nutrients
Genetics Flash Facts
2536
Q1269:Cori cycle
Genetics Flash Facts
2537
shuttles lactate from muscle to liver for regeneration to
pyruvate;allows muscles to fxn anaerobically
Genetics Flash Facts
2538
Q1270:TCA cycle
Genetics Flash Facts
2539
12 ATP/Acyl CoA;24 ATP/glu molec;1st four enzymes are
inhib by ATP/NADH;Cindy Is Kind So She's Friendly More
Often
Genetics Flash Facts
2540
Q1271:Gluconeogenesis: irreversible reactions
Genetics Flash Facts
2541
Pyr to oxaloacetate;Pyr carb req
ATP/AcylCoA/biotin;Oxaloacetate to PEP;PEP carbK req
GTP;F1;6BP to F6P;F1;6BPase;G6P to glu;G6Pase;enzymes
in liver; kidney; intestine;hypogly with G6Pase def (von
Gierke's)
Genetics Flash Facts
2542
Q1272:Glucose 6 Phosphate Dehydrogenase Deficiency
Genetics Flash Facts
2543
rate limiting enzyme of HMP shunt;necessary for RBCs to
produce NADPH for GSH regeneration;loss leads to
hemolytic anemia;triggered w/ oxidizing agents: sulfas;
primaquine; fava beans;Heinz bodies - Hb
precipitates;prevalent in Af-Am;X-linked recessive
Genetics Flash Facts
2544
Q1273:Fructose intolerance
Genetics Flash Facts
2545
aldolase B deficiency;all phosphate accum in F1P;inhib
glycogenolysis/gluconeogenesis;hypoglycemia; jaundice;
cirrhosis;Rx: decrease fructose/sucrose
Genetics Flash Facts
2546
Q1274:Galactose intolerance
Genetics Flash Facts
2547
galactose-1P uridyltransferase def;accum of toxic
metabolites;cataracts;hepatosplenomegaly;mental
retardation;Rx: decrease galactose/lactose
Genetics Flash Facts
2548
Q1275:Essential Amino Acids
Genetics Flash Facts
2549
PVT TIM HALL;phe;val;trp;thr;ile;met;his;arg;leu;lys
Genetics Flash Facts
2550
Q1276:Urea Cycle
Genetics Flash Facts
2551
C from CO2 (mitochondria);N from NH4 (mitochondria);N
from aspartate (cytosol)
Genetics Flash Facts
2552
Q1277:Phenylalanine derivatives
Genetics Flash Facts
2553
Tyrosine; Dopa; DA; NE; Epi; Melanin; Thyroxine
Genetics Flash Facts
2554
Q1278:Tryptophan derivatives
Genetics Flash Facts
2555
Niacin (NAD; NADP);Serotonin;Melatonin
Genetics Flash Facts
2556
Q1279:Histidine derivatives
Genetics Flash Facts
2557
Histamine
Genetics Flash Facts
2558
Q1280:Glycine derivatives
Genetics Flash Facts
2559
Porphyrin/Heme
Genetics Flash Facts
2560
Q1281:Arginine derivatives
Genetics Flash Facts
2561
Creatine;Urea;Nitric Oxide
Genetics Flash Facts
2562
Q1282:Homocytinuria
Genetics Flash Facts
2563
defective cystathionine synthase or;defective methionine
synthase;cysteine become essential;mental
retardation;osteoporosis;lens subluxation;tall stature;kyphosis
Genetics Flash Facts
2564
Q1283:Maple Syrup Urine Disease
Genetics Flash Facts
2565
alpha ketoacid dehydrogenase def blocked degradation of
branched aa (Ile; Leu; Val = I Love Vt maple syrup);CNS
defects; mental retardation; death
Genetics Flash Facts
2566
Q1284:Adenosine Deaminase Definiciency
Genetics Flash Facts
2567
SCID;Excess dATP prevents production of other deoxyribose
nucleotides via ribonucleotide reductase;-> lymphopenia
Genetics Flash Facts
2568
Q1285:Lesch-Nyhan Syndrome
Genetics Flash Facts
2569
X-linked recessive;LNS (Lacks Nucleotide Salvage);HGPRT
deficiency -> dec IMP/GMP prod -> inc uric acid
excr;retardation;self-mutilation;aggression;hyperuricemia;
gout; choreoathetosis
Genetics Flash Facts
2570
Q1286:Fatty Acid Metabolism
Genetics Flash Facts
2571
Synthesis = cytosol;enters via citrate shuttle;degradation =
mitochondria;enters via carnitine shuttle
Genetics Flash Facts
2572
Q1287:von Gierke's disease
Genetics Flash Facts
2573
Glycogen storage disease type I;glucose-6Pase
deficiency;(liver becomes like muscle);severe fasting
hypoglycemia;glycogen accum in liver;Very
Genetics Flash Facts
2574
Q1288:Pompe's disease
Genetics Flash Facts
2575
Glycogen storage disease type II (trashes the pump);lysomal
alpha-1;4-glucosidase def;cardiomegaly;early death;Poor
Genetics Flash Facts
2576
Q1289:Cori's Disease
Genetics Flash Facts
2577
Glycogen storage disease type III;deficiency of debranching
enzyme;alpha-1;6-glucosidase;Carbohydrate
Genetics Flash Facts
2578
Q1290:Glycogen storage disease type V
Genetics Flash Facts
2579
McArdle's disease;muscle glycogen phosphorylase
def;glycogen in musc -> painful cramps;myoglobinuria w/
strenuous exercise;Metabolism
Genetics Flash Facts
2580
Q1291:Ketone bodies
Genetics Flash Facts
2581
acetoacetate and betahydroxybutyrate;made in liver from
HMG-CoA;excr in urine (test for acetoacetate);elevated in
starvation/DM ketoacidosis;fruity breath;converted to 2
AcetylCoA in brain
Genetics Flash Facts
2582
Q1292:Insulin
Genetics Flash Facts
2583
from pancreatic beta cells;inc glu uptake in
musc/liver/fat;GLUT2 R in beta cells;GLUT4 in
periphery;inhib glucagon from alpha cells;C-peptide cleaved -
> activation
Genetics Flash Facts
2584
Q1293:Glucagon vs. Insulin
Genetics Flash Facts
2585
Glucagon phosphorylates;turns OFF glycogen synthase;turns
ON glycogen phosphorylase;Insulin dephosphorylates;turns
ON glycagen synthase;turns OFF glycagen phosphorylase
Genetics Flash Facts
2586
Q1294:Cholesterol synthesis and esterification
Genetics Flash Facts
2587
HMG-CoA reductase is the rate limiting enzyme in
synthesis;inhib by Lovastatin ;Esterification via LCAT
Genetics Flash Facts
2588
Q1295:Chylomicrons
Genetics Flash Facts
2589
dietary TGs to peripheral tissues; dietary chol to liver;travel
in lymphatics to thoracic duct to blood;excess ->
xanthomas;Apo B48 mediates excretion;Apo CII for
lipoprotein lipase;Apo E mediates liver uptake
Genetics Flash Facts
2590
Q1296:VLDL
Genetics Flash Facts
2591
hepatic TGs to periphery;excess causes pancreatitis;apo
B100 mediates secr;apo CII for lipoportein lipase;apo E
mediates liver uptake
Genetics Flash Facts
2592
Q1297:LDL
Genetics Flash Facts
2593
produced via VLDL modification;hepatic cholesterol to
periphery;uptake via R-med endocytosis (Apo B100);excess
causes ATH; xanthomas;Bad for you
Genetics Flash Facts
2594
Q1298:HDL
Genetics Flash Facts
2595
periphery cholesterol to liver;repository for Apo C/E;Apo A-
1 for LCAT & chol-esters;Good for you
Genetics Flash Facts
2596
Q1299:Familial Hypercholesterolemia
Genetics Flash Facts
2597
Increased Cholesterol/LDL;Auto Dom defect in LDL
R;xanthomas;MI before 30y in homozygous pt
Genetics Flash Facts
2598
Q1300:Familial Hypertriglyceridemia
Genetics Flash Facts
2599
Increased TGs/VLDL;Hepatic overproduction of VLDL
Genetics Flash Facts
2600
Q1301:Heme Synthesis
Genetics Flash Facts
2601
Rate limiting step: glycine + succinyl CoA -> ALA via ALA
synthase;occurs w/in mitochondria;inhibition ->
porphyrias;Pb inhib other enzymes ->
microcytic/hypochromic anemia and porphyria
Genetics Flash Facts
2602
Q1302:Heme catabolism
Genetics Flash Facts
2603
scavenged from RBCs;heme -> biliverdin -> bilirubin;bilirubin
excr in bile;converted to urobilinogen;excreted as urobilin in
urine
Genetics Flash Facts
2604
Q1303:Methemoglobinemia
Genetics Flash Facts
2605
Fe in ferric (oxidized) state;low O2 affinity
Genetics Flash Facts
2606
Q1304:Hb structure/affinity
Genetics Flash Facts
2607
Cl; H; CO2; DPG; heat favor the T (taut) form over R
(relaxed);causes decreased O2 affinity
Genetics Flash Facts
2608
Q1305:Vitamin A
Genetics Flash Facts
2609
Retinol; in retinal pigment;deficiency: night blindness; dry
skin
Genetics Flash Facts
2610
Q1306:Vitamin B1
Genetics Flash Facts
2611
Thiamine; cofactor in pyruvate carboxylase ;deficiency:
Beriberi and Wernicke's encephalopathy
Genetics Flash Facts
2612
Q1307:Vitamin B2
Genetics Flash Facts
2613
Riboflavin; FAD/FADH2;deficiency: corneal vascularization;
cheilosis
Genetics Flash Facts
2614
Q1308:Vitamin B3
Genetics Flash Facts
2615
Niacin; NAD/NADH (from Trp);deficiency: Pellagra;caused
by carcinoid syndrome; INH; Hartnup Dz;Diarrhea;
Dermatitis; Dememtia
Genetics Flash Facts
2616
Q1309:Vitamin B5
Genetics Flash Facts
2617
Pantothenate -> Coenzyme A;FA synth; Kreb's
Cycle;deficiency: Dermatitis; Enteritis; Alopecia; adrenal
insufficiency
Genetics Flash Facts
2618
Q1310:Vitamin B6
Genetics Flash Facts
2619
Pyridoxine;Converted to Pyridoxal Phosphate;cofactor in
transamination (ALT/AST)
Genetics Flash Facts
2620
Q1311:Biotin
Genetics Flash Facts
2621
cofactor for carboxylation;1. pyruvate -> oxaloacetate;2.
acetyl CoA -> malonyl CoA;3. proprionyl CoA ->
methylmalonyl CoA
Genetics Flash Facts
2622
Q1312:Folic Acid
Genetics Flash Facts
2623
Coenzyme for 1-C transfer;methylation rxns for nitrogenous
bases;most common vitamin deficiency in US: macrocytic;
megaloblastic anemia
Genetics Flash Facts
2624
Q1313:Vitamin B12
Genetics Flash Facts
2625
Cobalamin;Cofactor for homocyteine methylation &
methylmalyonyl handling;Stored in liver;deficiency caused by:
malabsorption (sprue; enteritis; diphyllobothrium latum);
pernicious anemia; ileectomy;Dx: Schilling test
Genetics Flash Facts
2626
Q1314:Vitamin C
Genetics Flash Facts
2627
Ascorbic Acid;cofactor for hydroxylation of proline/lysine in
collagen;facilitates Fe adsorption by keeping it
reduced;Deficiency: scurvy = swollen gums; bruising; poor
healing
Genetics Flash Facts
2628
Q1315:Vitamin D
Genetics Flash Facts
2629
D2 absorbed from gut;D3 formed in skin;25OH D3 storage
form;1;25OH D3 active form;increases Ca/PO4
absorption;deficiency: rickets; osteomalacia; hypoCa
tetany;excess: hyperCa; stupor;caused by sarcoidosis
mphages producing active D3
Genetics Flash Facts
2630
Q1316:Vitamin E
Genetics Flash Facts
2631
antioxidant protects RBCs against hemolysis;increased
fragility of RBCs
Genetics Flash Facts
2632
Q1317:Vitamin K
Genetics Flash Facts
2633
synthesis of clotting factors II; VII; IX; X and Proteins
C/S;synth'd by intestinal flora;deficiency seen in broad-
spectrum ABx; warfarin use;inc PT; PTT; INR;Neonatal
hemorrhage
Genetics Flash Facts
2634
Q1318:Ethanol Metabolism
Genetics Flash Facts
2635
alcohol and acetaldehyde dehydrogenase produce NADH and
acetate;excess NADH shunts pyruvate away from
gluconeogenesis to lactate;leads to hypoglycemia and FA
synth (fatty liver)
Genetics Flash Facts
2636
Q1319:Where does calcitonin work?
Genetics Flash Facts
2637
Osteoclast inhibits bone reabsorption
Genetics Flash Facts
2638
Q1320:What receptor does PTH hook on?
Genetics Flash Facts
2639
Osteoblast
Genetics Flash Facts
2640
Q1321:What does PTH releases?
Genetics Flash Facts
2641
IL-1 Osteoclast activating factor
Genetics Flash Facts
2642
Q1322:What keeps a check on IL-1?
Genetics Flash Facts
2643
Testosteron and Estrogen
Genetics Flash Facts
2644
Q1323:Why do women get osteoporosis?
Genetics Flash Facts
2645
Menopausal Women; breaking bone down since IL-1 is not
checked
Genetics Flash Facts
2646
Q1324:What enzyme is in the S.E.R. when you have increase
P-450?
Genetics Flash Facts
2647
Gamma-glutamyl transferase;- key tests for alcoholics
Genetics Flash Facts
2648
Q1325:Why does renal dz causes vitamin D deficiency?
Caused by Diabetes Mellitus
Genetics Flash Facts
2649
no alpha-1-hydroxylase
Genetics Flash Facts
2650
Q1326:Vitamin D from the store; what happens to it before it
becomes activate?
Genetics Flash Facts
2651
25-OH D activated in the liver;- 1;25 OH D in kidneys by
alpha-hydroxylase
Genetics Flash Facts
2652
Q1327:Hypervitaminosis D? What happens?
Genetics Flash Facts
2653
Increase Calcium (hypercalcemia); more Calcium in urine
causing Stones.
Genetics Flash Facts
2654
Q1328:Type I Vitamin D is what?
Genetics Flash Facts
2655
Missing alpah-1-hydroxylase
Genetics Flash Facts
2656
Q1329:What is wrong with Type II Vitamin D deficiency?
Genetics Flash Facts
2657
Bad receptors
Genetics Flash Facts
2658
Q1330:What is vitamin E main fuction?
Genetics Flash Facts
2659
- Prevent lipid peroxidation of cell membranes;- protect
membrane from breaking down by phospholipid A;-
neutralizes oxidis LDL (makes it less injurious); i.e.
cardioprotective
Genetics Flash Facts
2660
Q1331:Who gets Vitamine E deficiency?
Genetics Flash Facts
2661
Cystic Fibrosis Patients
Genetics Flash Facts
2662
Q1332:Does vitamin E deficiency cause hemolytic anemia?
Genetics Flash Facts
2663
Yes! Susceptible to membrane damage (radical)
Genetics Flash Facts
2664
Q1333:Does vitamin E help myelin?
Genetics Flash Facts
2665
Yes! Problems neurologicly since they disrupt the membranes
in the brain. Spinalcerebellar Dz
Genetics Flash Facts
2666
Q1334:What vitamin enhances the activity of warfarin?
Genetics Flash Facts
2667
Vitamin E excess!
Genetics Flash Facts
2668
Q1335:What changes k2(inactive) to k1?
Genetics Flash Facts
2669
epoxide reductase ;k1 gamma carboxylates activates factors II;
VII; IX; X;hydroxylates proline and lisine;activates them so
they are fucntional
Genetics Flash Facts
2670
Q1336:Warfarin does what?
Genetics Flash Facts
2671
Blocks epoxide reductase; all vitamin K is K2 (inactive)
Genetics Flash Facts
2672
Q1337:Vitamine K deficiency?
Genetics Flash Facts
2673
Prolong Antibiotics;Poor Diets;New Borns
Genetics Flash Facts
2674
Q1338:What amino acids stimulate Growth Hormone (GH)?
Genetics Flash Facts
2675
Arganine and Histidine(Ornithine)
Genetics Flash Facts
2676
Q1339:Symptoms of hypocortisolism?
Genetics Flash Facts
2677
fasting hypoglycemia and fatigue;ACTH low;Corisol Low
Genetics Flash Facts
2678
Q1340:Central Diabetes Insipidus;Causes?
Genetics Flash Facts
2679
Car accident
Genetics Flash Facts
2680
Q1341:Where is it made?
Genetics Flash Facts
2681
Superoptic/Paraventricular Nucleus of hypothalamus
Genetics Flash Facts
2682
Q1342:Where is ADH stored?
Genetics Flash Facts
2683
Vassopressin (ADH) is stored in the posterior hypofisis
Genetics Flash Facts
2684
Q1343:Signs and Symptoms of SIADH?
Genetics Flash Facts
2685
-Thrist (polydypsia);- polyuria
Genetics Flash Facts
2686
Q1344:Mechanisms of polyuria in DM?
Genetics Flash Facts
2687
Osmotic Diuresis
Genetics Flash Facts
2688
Q1345:Where is HMG CoA Synthase seen?
Genetics Flash Facts
2689
Ketogenesis;Acetyl CoA ----> HMG CoA
Genetics Flash Facts
2690
Q1346:What is involved in ketogenolysis (extrahepatic)?
Genetics Flash Facts
2691
Hydroxybutyrate ----> Acetoacetate ---> Acetoacetyl CoA --
--> Acetyl CoA ----> Citric Acid Cycle
Genetics Flash Facts
2692
Q1347:What is perceived as fruity odor?
Genetics Flash Facts
2693
Acetone in the blood;Seen in prolonged fasting
Genetics Flash Facts
2694
Q1348:What amino acid is used in starvation?
Genetics Flash Facts
2695
Alanine
Genetics Flash Facts
2696
Q1349:How long does glycogen storages last when you are
fasting?
Genetics Flash Facts
2697
24 hours
Genetics Flash Facts
2698
Q1350:When does protein degradation start?
Genetics Flash Facts
2699
after 12-24 hours
Genetics Flash Facts
2700
Q1351:How many days does it take for fat to become the
predominant source of glucose?
Genetics Flash Facts
2701
1 week is the breaking point
Genetics Flash Facts
2702
Q1352:When is the highest fat source for glucose? Week?
When are ketones at the highest level?
Genetics Flash Facts
2703
After the 3rd week
Genetics Flash Facts
2704
Q1353:G6PDH;Reactant and product
Genetics Flash Facts
2705
Reactant: Glucose-6-P;Product: 6-phosphogluconate
Genetics Flash Facts
2706
Q1354:G6PDH;cofactor
Genetics Flash Facts
2707
NADP;(rxn: NADP ---> NADPH)
Genetics Flash Facts
2708
Q1355:G6PDH;part of what pathway?
Genetics Flash Facts
2709
Hexose monophosphate shunt
Genetics Flash Facts
2710
Q1356:G6PDH;induced by
Genetics Flash Facts
2711
insulin
Genetics Flash Facts
2712
Q1357:G6PDH;activated by
Genetics Flash Facts
2713
NADP (decrease in NADPH/NADP ratio)
Genetics Flash Facts
2714
Q1358:G6PDH deficiency;inheritence
Genetics Flash Facts
2715
XLR
Genetics Flash Facts
2716
Q1359:G6PDH;major function
Genetics Flash Facts
2717
Generate NADPH for anabolic purposes (EG: FA synthesis);
antimicrobial killing and protection of cells from reactive
oxygen species
Genetics Flash Facts
2718
Q1360:Describe the role of NADPH in protecting against
ROS (particularly in RBCs)
Genetics Flash Facts
2719
NADPH reduces oxidized Glutathionine (G-S-S-G) back to
its reduced form (2 GSH). GSH allows the enzyme
Glutathionine peroxidase to breakdown H202
Genetics Flash Facts
2720
Q1361:G6PDH deficiency;3 key features
Genetics Flash Facts
2721
-immunodeficiency (in severe disease);- Heinz bodies;-
hemolytic anemia
Genetics Flash Facts
2722
Q1362:G6PDH deficiency;stressors that can acute hemolytic
anemia
Genetics Flash Facts
2723
-ifn;-drugs (sulfas; chloroquine);-fava beans
Genetics Flash Facts
2724
Q1363:G6PDH deficiency;Why can this condition lead to
immunodeficiency?
Genetics Flash Facts
2725
NAPDH oxidase generates bactericidal superoxide. NADPH
deficiency inhibits this function.
Genetics Flash Facts
2726
Q1364:CGD/NADPH deficiency;How can the diagnosis be
confirmed
Genetics Flash Facts
2727
a NEGATIVE nitroblue tetrazolium test
Genetics Flash Facts
2728
Q1365:HMG CoA reductase;location
Genetics Flash Facts
2729
ER
Genetics Flash Facts
2730
Q1366:HMG CoA reductase;activated by?
Genetics Flash Facts
2731
insulin
Genetics Flash Facts
2732
Q1367:HMG CoA reductase;;enzyme ACTIVITY is
inhibited by
Genetics Flash Facts
2733
-glucagon;-statins
Genetics Flash Facts
2734
Q1368:HMG CoA reductase;reaction
Genetics Flash Facts
2735
HMG-CoA is converted to mevalonate
Genetics Flash Facts
2736
Q1369:HMG CoA reductase;cholesterol effect on the enzyme
Genetics Flash Facts
2737
Increased hepatic cholesterol represses expression and
enhances degradation
Genetics Flash Facts
2738
Q1370:HMG CoA reductase;How does inhibition by statin
drugs decrease cholesterol levels?
Genetics Flash Facts
2739
Inhibition by statins both decreases de novo synthesis and
enhances hepatic clearence of serum cholesterol by increased
LDLR expression
Genetics Flash Facts
2740
Q1371:HMG CoA reductase;statins are _________ inhibitors
Genetics Flash Facts
2741
competitive
Genetics Flash Facts
2742
Q1372:DHFR;reaction it catalyzes
Genetics Flash Facts
2743
Folate---->DHF--->THF
Genetics Flash Facts
2744
Q1373:DHFR;eukaryotic inhibitior
Genetics Flash Facts
2745
methotrexate
Genetics Flash Facts
2746
Q1374:DHFR;prokaryotic inhibitors (2)
Genetics Flash Facts
2747
-Trimethoprim;-pyrimethamine
Genetics Flash Facts
2748
Q1375:DHFR;Most important downstream consequence of
inhibition?
Genetics Flash Facts
2749
A block of DHFR function ultimately prevent synthesis of
thymidylate (thymidylate synthase is folate dependent)
Genetics Flash Facts
2750
Q1376:how can ornithine transcarbamylase deficiency be
distinguished from orotic aciduria
Genetics Flash Facts
2751
OTCD has hyperammonia and low BUN;Orotic aciduria has a
normal BUN
Genetics Flash Facts
2752
Q1377:Orotic Aciduria;enzymatic causes
Genetics Flash Facts
2753
- orotic acid phosphoribosyltransferase deficiency;OR;- OMP
decarboxylase deficiency
Genetics Flash Facts
2754
Q1378:UDP-Glucuronyl transferase;key reaction
Genetics Flash Facts
2755
Bilirubin + glucoronide ----> bilirubin-diglucoronide
Genetics Flash Facts
2756
Q1379:UDP-Glucuronyl transferase;significance in neonates
Genetics Flash Facts
2757
UDP-Glucuronyl transferase is the last enzyme expressed in
infants. Thus; neonates have increased susceptibility to
jaundice and kernicterus
Genetics Flash Facts
2758
Q1380:Dubin-Johnson syndrome;characterized by
Genetics Flash Facts
2759
black pigment in the liver due to impaired excretion of direct
bilirubin
Genetics Flash Facts
2760
Q1381:Crigler-Najjar syndrome;define
Genetics Flash Facts
2761
a severe UDP-Glucuronyl transferase deficiency
Genetics Flash Facts
2762
Q1382:Gilbert Syndrome;define
Genetics Flash Facts
2763
a benign UDP-Glucuronyl transferase deficiency
Genetics Flash Facts
2764
Q1383:gamma-glutamyl carboxylase;rxn:
Genetics Flash Facts
2765
glu -----> gamma gultamic acid
Genetics Flash Facts
2766
Q1384:gamma-glutamyl carboxylase;function and substrate of
this rxn:
Genetics Flash Facts
2767
gamma carboxylation of factors II; VII; IX; X and Protein
C&S generates Ca binding sites.
Genetics Flash Facts
2768
Q1385:gamma-glutamyl carboxylase;dependent on?
Genetics Flash Facts
2769
vit K
Genetics Flash Facts
2770
Q1386:gamma-glutamyl carboxylase;inhibited by
Genetics Flash Facts
2771
warfarin and dicoumarol
Genetics Flash Facts
2772
Q1387:Warfarin;does this drug inhibit in vitro clotting?
Genetics Flash Facts
2773
NO; warfarin's effect (vit K reductase inhibition) prvents in
vivo clotting by blocking clotting factor synthesis but has no
effect on existant factors.
Genetics Flash Facts
2774
Q1388:gamma-glutamyl carboxylase;this reaction catalyzes
what type of modification
Genetics Flash Facts
2775
cotranslational modification of clotting factors
Genetics Flash Facts
2776
Q1389:Homocysteine methyltranferase;rxn:
Genetics Flash Facts
2777
homocysteine ---> methionine
Genetics Flash Facts
2778
Q1390:Homocysteine methyltranferase;cofactors:
Genetics Flash Facts
2779
-N5-methyl THF;-methylcobalamin (B12)
Genetics Flash Facts
2780
Q1391:mild homocysteinuria is associated with deficiencies is
what vitamins
Genetics Flash Facts
2781
folate;B12;B6 (cystathionine synthase rxn)
Genetics Flash Facts
2782
Q1392:mild homocysteinuria;symptoms
Genetics Flash Facts
2783
-DVT;-stroke;-atherosclerosis
Genetics Flash Facts
2784
Q1393:how can B12 deficiency be distinguished from folate
deficiency?
Genetics Flash Facts
2785
B12 deficiency is associated with methylmalonic aciduria
Genetics Flash Facts
2786
Q1394:name the 3 "ABC" carboxylases
Genetics Flash Facts
2787
(ATP; Biotin; Co2);-propionyl-CoA carboxylase;-acetyl-CoA
carboxylase;-pyruvate carboxylase
Genetics Flash Facts
2788
Q1395:Methylmalonyl-CoA mutase;rxn:
Genetics Flash Facts
2789
Methylmalonyl-CoA ---> succinyl-CoA
Genetics Flash Facts
2790
Q1396:Methylmalonyl-CoA mutase;cofactor:
Genetics Flash Facts
2791
adeonsylcobalamin (B12)
Genetics Flash Facts
2792
Q1397:Methylmalonyl-CoA mutase;deficiency results in:
Genetics Flash Facts
2793
Methylmalonylic aciduria and peripheral neuropathy
Genetics Flash Facts
2794
Q1398:Lesch-Nyhan Syndrome;inheritence:
Genetics Flash Facts
2795
XLR
Genetics Flash Facts
2796
Q1399:Lesch-Nyhan Syndrome;genetic cause:
Genetics Flash Facts
2797
HGPRT deficiency
Genetics Flash Facts
2798
Q1400:Lesch-Nyhan Syndrome;symptoms:
Genetics Flash Facts
2799
-spastic cerebral palsy;-self-mutilation;-hyperuricemia;-early
death
Genetics Flash Facts
2800
Q1401:6-Mercaptopurine is activated by
Genetics Flash Facts
2801
HGPRT
Genetics Flash Facts
2802
Q1402:Lesch-Nyhan Syndrome;pathophysiology
Genetics Flash Facts
2803
Loss of the salvage pathways results in shunting of
Hypoxanthine and guanine to the excretion
pathway;Furthermore; loss of feedback inhibition of PRPP
admidotransferase results in additional purine synthesis;Thus;
HGPRT deficiency leads to crippling excesses of urate
Genetics Flash Facts
2804
Q1403:HGRPT;rxn:
Genetics Flash Facts
2805
hypoxanthine/guanine -----> IMP/GMP
Genetics Flash Facts
2806
Q1404:Branched-chain Ketoacid DH;cofactors:
Genetics Flash Facts
2807
TPP;Lipoic acid;CoA;FAD;NAD
Genetics Flash Facts
2808
Q1405:Branched-chain Ketoacid DH;critical in the
metabolism of
Genetics Flash Facts
2809
Valine;Leucine;Isoleucine
Genetics Flash Facts
2810
Q1406:Branched-chain Ketoacid DH;associated disease:
Genetics Flash Facts
2811
maple serup urine disease
Genetics Flash Facts
2812
Q1407:maple serup urine disease;symptoms:
Genetics Flash Facts
2813
-urine has a maple odor;-mental retardation;-abnormal muscle
tone;-ketosis;-coma;death
Genetics Flash Facts
2814
Q1408:name the substances that enter the propionyl-CoA
pathway
Genetics Flash Facts
2815
(VOMIT);Valine;Odd chain
FA;Methionine;Isoleucine;Threonine
Genetics Flash Facts
2816
Q1409:Pyruvate DH;cofactors
Genetics Flash Facts
2817
TPP;Lipoic Acid;CoA;FAD;NAD
Genetics Flash Facts
2818
Q1410:Pyruvate DH;rxn:
Genetics Flash Facts
2819
pyruvate------> acetyl CoA
Genetics Flash Facts
2820
Q1411:Pyruvate DH;deficient in what population
(consequence)
Genetics Flash Facts
2821
alcoholics due to thiamine deficiency (results in lactic
acidosis)
Genetics Flash Facts
2822
Q1412:Pyruvate DH;inhibited by
Genetics Flash Facts
2823
acetyl-CoA
Genetics Flash Facts
2824
Q1413:PKU;genetic causes
Genetics Flash Facts
2825
phenylalanine hyxdroxylase
deficiency;OR;tetrahydrobiopterin deficiency
Genetics Flash Facts
2826
Q1414:Aspartame is contraindicated in what condition
Genetics Flash Facts
2827
PKU
Genetics Flash Facts
2828
Q1415:PKU;untreated symptoms
Genetics Flash Facts
2829
-pale skin and white hair;-mental retardation;-loss of motor
control;-musty; mousy odor
Genetics Flash Facts
2830
Q1416:PKU;-pathophysiology
Genetics Flash Facts
2831
elevated phenylalanine has a neurotoxic effect
Genetics Flash Facts
2832
Q1417:Phenylalanine hydroxylase;rxn
Genetics Flash Facts
2833
phe ---> tyrosine
Genetics Flash Facts
2834
Q1418:MCAD;function
Genetics Flash Facts
2835
oxidation of medium chain FA
Genetics Flash Facts
2836
Q1419:MCAD deficiency;symptoms
Genetics Flash Facts
2837
-fasting hypoglycemia;- NO KETONES;-C8-10 acyl
carnitines in blood;-DICARBOXYLIC ACIDEMIA
Genetics Flash Facts
2838
Q1420:Dicarboxylic acidemia is pathognomonic for
Genetics Flash Facts
2839
MCAD deficiency
Genetics Flash Facts
2840
Q1421:Topoisomerase II;inhibited by what drug class in
prokaryotes
Genetics Flash Facts
2841
#NAME?
Genetics Flash Facts
2842
Q1422:Topoisomerase II;function
Genetics Flash Facts
2843
relieves positive supercoiling during DNA replication by
introducing negative supercoils
Genetics Flash Facts
2844
Q1423:Topoisomerase II;target for what drugs in eukaryotes
Genetics Flash Facts
2845
etoposide;teniposide
Genetics Flash Facts
2846
Q1424:Excision endonuclease;function
Genetics Flash Facts
2847
removal of intrastrand thymine dimers
Genetics Flash Facts
2848
Q1425:Xerderma pigmentosum;defective gene
Genetics Flash Facts
2849
excision endonuclease
Genetics Flash Facts
2850
Q1426:Xerderma pigmentosum;symptoms
Genetics Flash Facts
2851
extreme UV sensitivity;excessive freckling;multiple skin
cancers;corneal ulcerations
Genetics Flash Facts
2852
Q1427:Carbamoyl-P Synthetase (CPS-I) deficiency
Genetics Flash Facts
2853
- urea cycle defect;- condition: type I hyperammonemia;-
metabolites accumulated: ammonia; glutamine; alanine
Genetics Flash Facts
2854
Q1428:Ornithine transcarbamoylase (OTC) deficiency
Genetics Flash Facts
2855
- urea cycle defect;- condition: type II hyperammonemia;-
metabolites accumulated: ammonia; glutamine; orotate
Genetics Flash Facts
2856
Q1429:Argininosuccinate synthetase deficiency
Genetics Flash Facts
2857
- urea cycle defect;- condition: citrullinemia;- metabolites
accumulated: citrulline
Genetics Flash Facts
2858
Q1430:Argininosuccinate lyase deficiency
Genetics Flash Facts
2859
- urea cycle defect;- condition: argininosuccinic aciduria;-
metabolites accumulated: argininosuccinate
Genetics Flash Facts
2860
Q1431:Arginase deficiency
Genetics Flash Facts
2861
- urea cycle defect;- condition: hyperargininemia;- metabolites
accumulated: arginine
Genetics Flash Facts
2862
Q1432:Maple Syrup Urine Disease
Genetics Flash Facts
2863
- AR defect in branched-chain ketoacid dehydrogenase;- high
plasma & urine levels of branched-chain AA (leucine; valine;
isoleucine) and their corresponding alpha-keto acids and
alpha-hydroxyacids;- urine odor of maple syrup or burnt
sugar;- brain damage
Genetics Flash Facts
2864
Q1433:strictly ketogenic AA
Genetics Flash Facts
2865
leu; lys;degraded tp acetyl-CoA or acetoacetyl-CoA --> both
converted to ketone bodies
Genetics Flash Facts
2866
Q1434:both ketogenic + glucogenic AA
Genetics Flash Facts
2867
ile; phe; tyr; trp
Genetics Flash Facts
2868
Q1435:strictly glucogenic AA
Genetics Flash Facts
2869
all others
Genetics Flash Facts
2870
Q1436:7 metabolic intermediates derived from AA
Genetics Flash Facts
2871
acetyl-CoA;acetoacetyl-CoA;oxaloacetate;fumarate;succinyl-
CoA;alpha-keto glutarate;propionyl-CoA (converted to
succinyl-CoA)
Genetics Flash Facts
2872
Q1437:AA that form pyruvate
Genetics Flash Facts
2873
glycine; alanine; cysteine; serine; threonine; tryptophan
Genetics Flash Facts
2874
Q1438:AA that form acetyl-CoA
Genetics Flash Facts
2875
leucine; isoleucine
Genetics Flash Facts
2876
Q1439:AA that form acetoacetyl-CoA
Genetics Flash Facts
2877
leucine; lysine;phenylalanine; tryptophan; tyrosine
Genetics Flash Facts
2878
Q1440:AA that form oxaloacetate
Genetics Flash Facts
2879
asparagine; aspartate
Genetics Flash Facts
2880
Q1441:AA that form fumarate
Genetics Flash Facts
2881
tyrosine; phenylalanine
Genetics Flash Facts
2882
Q1442:AA that form propionyl-CoA (then converted to
succinyl-CoA)
Genetics Flash Facts
2883
isoleucine; methionine; threonine; valine
Genetics Flash Facts
2884
Q1443:AA that form glutamate (then converted to alpha-
ketoglutarate)
Genetics Flash Facts
2885
proline; arginine; histidine; glutamine
Genetics Flash Facts
2886
Q1444:propionic aciduria
Genetics Flash Facts
2887
2/2 deficiency of biotin; propionyl-CoA carboxylase;
holocarboxylase synthase; or the enzyme that covalentloy
attaches biotin to all carboxylases (in last case; additional
organic acids accumulate)
Genetics Flash Facts
2888
Q1445:methylmalonic aciduria
Genetics Flash Facts
2889
2/2 deficiency in vitamin B12 or defect in methylmalonyl-
CoA mutase;some pts respond well to megadose of vit B12
Genetics Flash Facts
2890
Q1446:pyridoxal phosphate
Genetics Flash Facts
2891
derivative of pyridoxine (vit B6);acts as coenzyme for all
transaminases
Genetics Flash Facts
2892
Q1447:CPS-1 activation
Genetics Flash Facts
2893
high protein diet --> glutamate accumulation --> increase in
NAG --> CPS-1 activation
Genetics Flash Facts
2894
Q1448:arginase found only in
Genetics Flash Facts
2895
brain; liver; kidney
Genetics Flash Facts
2896
Q1449:amino groups in muscle
Genetics Flash Facts
2897
transferred to pyruvate to form alanine --> dumped into
circulation --> picked up by liver; where it is converted back
to pyruvate
Genetics Flash Facts
2898
Q1450:liver uses pyruvate for
Genetics Flash Facts
2899
gluconeogenesis
Genetics Flash Facts
2900
Q1451:liver uses amino groups for
Genetics Flash Facts
2901
urea synthesis
Genetics Flash Facts
2902
Q1452:phenylketonuria (PKU)
Genetics Flash Facts
2903
deficiency in phenylalanine hydroxylase or dihydrobiopterin
reductase;buildup of phenylalanine; phenylpyruvate;
phenylacetate; phenyllactate in blood and urine;**tyrosine
becomes an essential AA**
Genetics Flash Facts
2904
Q1453:PKU Sx
Genetics Flash Facts
2905
musty body odor;MR
Genetics Flash Facts
2906
Q1454:dihydrobiopterin reductase deficiency
Genetics Flash Facts
2907
PKU + impairment of catecholamine and serotonin synthesis
Genetics Flash Facts
2908
Q1455:PKU Tx
Genetics Flash Facts
2909
remove phenylalanine from diet (incl NutraSweet)
Genetics Flash Facts
2910
Q1456:NutraSweet
Genetics Flash Facts
2911
dipeptide containing phenylalanine + aspartic acid
Genetics Flash Facts
2912
Q1457:precursor for tyrosine
Genetics Flash Facts
2913
phenylalanine
Genetics Flash Facts
2914
Q1458:sulfur for cysteine synthesis comes from
Genetics Flash Facts
2915
methionine
Genetics Flash Facts
2916
Q1459:if phenylalanine deficient in diet
Genetics Flash Facts
2917
tyrosine becomes essential AA
Genetics Flash Facts
2918
Q1460:if methionine essential in diet
Genetics Flash Facts
2919
cysteine becomes essential AA
Genetics Flash Facts
2920
Q1461:elevated plasma homocysteine is risk factor for
Genetics Flash Facts
2921
coronary heart disease;independent of risk associated with
elevated cholesterol
Genetics Flash Facts
2922
Q1462:homocystinuria
Genetics Flash Facts
2923
large amts. homocystine in urine;acquired or inherited;most
often seen in children with FTT; lens displacement
Genetics Flash Facts
2924
Q1463:causes of homocystinuria
Genetics Flash Facts
2925
deficiency in pyridoxine; folate; or vitamin B12;OR;inherited
defect in either cystathionine synthase or methionine
synthase;all above result in accumulation of homocysteine;
which is readily oxidized to its disulfide form; homocystine
Genetics Flash Facts
2926
Q1464:homocystine
Genetics Flash Facts
2927
disulfide form of homocysteine
Genetics Flash Facts
2928
Q1465:cysthathionuria
Genetics Flash Facts
2929
2/2 deficiency in pyridoxine or from genetic defect in
cystathionase;large amts. cystathionine found in urine + blood
Genetics Flash Facts
2930
Q1466:Parkinson dz: cause
Genetics Flash Facts
2931
decreased dopamine in substantia nigra
Genetics Flash Facts
2932
Q1467:Parkinson prevalence
Genetics Flash Facts
2933
1% of pop > 55yrs
Genetics Flash Facts
2934
Q1468:Parkinson Sx
Genetics Flash Facts
2935
tremors; postural instability; rigidity; bradykinesia
Genetics Flash Facts
2936
Q1469:Parkinson Tx
Genetics Flash Facts
2937
L-dopa + carbidopa
Genetics Flash Facts
2938
Q1470:Carbidopa
Genetics Flash Facts
2939
decreases extra-CNS effects of L-dopa;selectively inhibits
aromatic acid decarboxylase outside CNS;does not cross BBB
so does not inhibit conversion of L-dopa --> dopamine
Genetics Flash Facts
2940
Q1471:carcinoid tumors
Genetics Flash Facts
2941
neoplastic transformation of enterochromaffin cells;secrete
excess serotonin;high levels of 5-HI in urine
Genetics Flash Facts
2942
Q1472:nitroglycerin and other angina tx
Genetics Flash Facts
2943
act in part to spontaneously generate nitric oxide
Genetics Flash Facts
2944
Q1473:porphyria
Genetics Flash Facts
2945
any abnormality in pathway of heme synthesis;block early in
pathway: intermediates buildup & are excreted in urine;block
late in pathway: excreted in urine + feces; accumulate in skin
Genetics Flash Facts
2946
Q1474:lead poisoning and heme synthesis
Genetics Flash Facts
2947
lead poisoning can be considered acquired porphyria b/c
inhibits ALA DEHYDRATASE and HEME SYNTHASE
(FERROCHELATASE)
Genetics Flash Facts
2948
Q1475:4 broad causes of hyperbilirubinemia
Genetics Flash Facts
2949
massive hemolysis;block in heme catabolism;bile
obstruction;liver damage;always jaundice
Genetics Flash Facts
2950
Q1476:anabolism
Genetics Flash Facts
2951
build stuff (need energy)
Genetics Flash Facts
2952
Q1477:What a.a. is the smallest?
Genetics Flash Facts
2953
Glycine
Genetics Flash Facts
2954
Q1478:What a.a. is involved in gluconeogenesis?
Genetics Flash Facts
2955
Alanine
Genetics Flash Facts
2956
Q1479:What a.a. are branched?
Genetics Flash Facts
2957
Valine;Leucine;Isoleucine;I Saw Lucy and Val(erie) Like syrup
Genetics Flash Facts
2958
Q1480:What a.a. bends proteins?
Genetics Flash Facts
2959
Proline
Genetics Flash Facts
2960
Q1481:What a.a. is converted to tyrosine?
Genetics Flash Facts
2961
Phenylalanine
Genetics Flash Facts
2962
Q1482:What is made with Tyrosine? 3 things;
Genetics Flash Facts
2963
1) Catecholamines (NE; Epi);2) Thyroid T3/T4;3) Melanin
Genetics Flash Facts
2964
Q1483:What causes Hartnup Dz?
Genetics Flash Facts
2965
Tryptophan ;tryp up the esophagus
Genetics Flash Facts
2966
Q1484:What coenzyme is needed to degrade tryptophan?
Genetics Flash Facts
2967
Niacin
Genetics Flash Facts
2968
Q1485:What deffect do you see when you have Niacin
defiency?
Genetics Flash Facts
2969
Pellagra
Genetics Flash Facts
2970
Q1486:What are the symptoms of pellagra?
Genetics Flash Facts
2971
Diarrhea;Dermatitis;Dementia
Genetics Flash Facts
2972
Q1487:What are the basic a.a.?
Genetics Flash Facts
2973
HAL;Histidine;Alaline;Lysine
Genetics Flash Facts
2974
Q1488:What two a.a. are acidic?
Genetics Flash Facts
2975
Aspartate;Glutamate;aspartic acid; glutamic acid
Genetics Flash Facts
2976
Q1489:What a.a. have OH in htem?
Genetics Flash Facts
2977
Serine;Threonine
Genetics Flash Facts
2978
Q1490:Valine is a branched a.a. what happens glutamate is
changed to val?;glutamate ----> valine
Genetics Flash Facts
2979
Sickle Cell Anemia;Missense mutation;anemia sickle
Genetics Flash Facts
2980
Q1491:What happens when there is a deletion of
phenylalanine at position 508?
Genetics Flash Facts
2981
Cystic Fibrosis;Chromosome seven;problem in folding
proteins
Genetics Flash Facts
2982
Q1492:Why is cysteine important?
Genetics Flash Facts
2983
Because it produces S-thiol and is the Tx for Acetaminophen
Toxicity;NO+ guanylate cyclase increasing cGMP
Genetics Flash Facts
2984
Q1493:Why is methionine important?
Genetics Flash Facts
2985
Makes AUG; SAM;initiate transcription;methylates in SAM
Genetics Flash Facts
2986
Q1494:WHat is asparagine famous for?
Genetics Flash Facts
2987
N.glycosylation in E.R. mannose to protein
Genetics Flash Facts
2988
Q1495:WHat is glutamine used for?
Genetics Flash Facts
2989
NH3 donor;Amonia
Genetics Flash Facts
2990
Q1496:WHat a.a. is need in positve nitrogen balance?
Genetics Flash Facts
2991
Arginine
Genetics Flash Facts
2992
Q1497:When does positive nitrogen balance occur?
Genetics Flash Facts
2993
Growth;Pregnancy;Recovery from injury or surgery;Recovery
from Negative Nitrogen Balance
Genetics Flash Facts
2994
Q1498:When does negative nitrogen balance?
Genetics Flash Facts
2995
Protein Malnutrition (Kwashiorkor);Starvation
(Marasmus);DM uncontrolled;Infection;Diet Defficient of
essential a.a.
Genetics Flash Facts
2996
Q1499:What is the enzyme deficiency in Von Gierke's disease
(Type I)?
Genetics Flash Facts
2997
Glucose-6-phosphatase
Genetics Flash Facts
2998
Q1500:What is the enzyme deficiency in Pompe's disease
(Type II)?
Genetics Flash Facts
2999
Lysosomal alpha-1;4-glucosidase
Genetics Flash Facts
3000
Q1501:What is the enzyme deficiency in Cori's disease (Type
III)?
Genetics Flash Facts
3001
Debranching enzyme alpha-1;6-glucosidase
Genetics Flash Facts
3002
Q1502:What is the enzyme deficiency in McArdle's disease
(Type V)?
Genetics Flash Facts
3003
Skeletal muscle glycogen phosphorylase
Genetics Flash Facts
3004
Q1503:What is the enzyme deficiency in Andersen's disease
(Type IV)?
Genetics Flash Facts
3005
Glycogen branching enzyme amylo-1;4-1;6-transglucosidase
Genetics Flash Facts
3006
Q1504:What is the enzyme deficiency in Tarui's disease
(Type VII)?
Genetics Flash Facts
3007
Skeletal muscle PFK-1
Genetics Flash Facts
3008
Q1505:What are the findings in Von Gierke's disease (Type I)
(6)?
Genetics Flash Facts
3009
Severe fasting hypoglycemia;Increased glycogen in liver;Thin
extremities; chubby facies;Fatty liver;Renal disease;Growth
retardation; delayed puberty
Genetics Flash Facts
3010
Q1506:What are the findings in Pompe's disease (Type II)
(4)?
Genetics Flash Facts
3011
Cardiomegaly;Early death;Normal blood glucose;"Trashes the
pump" (heart; liver; muscle)
Genetics Flash Facts
3012
Q1507:What are the findings in Cori's disease (Type III) (3)?
Genetics Flash Facts
3013
Hypoglycemia;Failure to thrive;Hepatomegaly
Genetics Flash Facts
3014
Q1508:What are the findings in McArdle's disease (Type V)
(3)?
Genetics Flash Facts
3015
Increased glycogen in muscle (can't break it down);Paimful
cramps;No rise in lactate w/ exercise
Genetics Flash Facts
3016
Q1509:What are the findings in Tarui's disease (Type VII)
(4)?
Genetics Flash Facts
3017
Like McArdle's;Nausea and vomiting;Acute exacerbation after
high-carb meal;Hyperuricemia and hyperbilirubinemia
Genetics Flash Facts
3018
Q1510:What are the findings in Andersen's disease (Type IV)
(4)?
Genetics Flash Facts
3019
Glycogen with unbranched chains in tissue;Resembles
amylopectin;Failure to thrive;Hepatosplenomegaly
Genetics Flash Facts
3020
Q1511:How do you treat Von Gierke's disease (Type I)?
Genetics Flash Facts
3021
Nocturnal glucose; uncooked corn starch
Genetics Flash Facts
3022
Q1512:What is/are the MAJOR REGULATORY ENZYME
of the citric acid cycle?
Genetics Flash Facts
3023
Citrate synthase
Genetics Flash Facts
3024
Q1513:What is/are the MAJOR REGULATORY ENZYME
of glycolysis?
Genetics Flash Facts
3025
Phosphofructokinase-1
Genetics Flash Facts
3026
Q1514:What is/are the MAJOR REGULATORY ENZYME
of pyruvate oxidation?
Genetics Flash Facts
3027
Pyruvate dehydrogenase
Genetics Flash Facts
3028
Q1515:What is/are the MAJOR REGULATORY ENZYMES
of gluconeogenesis (3)?
Genetics Flash Facts
3029
Pyruvate carboxylase;Phosphoenolpyruvate
carboxykinase;Fructose-1;6-bisphosphatase
Genetics Flash Facts
3030
Q1516:What is/are the MAJOR REGULATORY ENZYME
of glycogenesis?
Genetics Flash Facts
3031
Glycogen synthase
Genetics Flash Facts
3032
Q1517:What is/are the MAJOR REGULATORY ENZYME
of glycogenolysis?
Genetics Flash Facts
3033
Glycogen phosphorylase
Genetics Flash Facts
3034
Q1518:What is/are the MAJOR REGULATORY ENZYME
of the pentose phosphate pathway?
Genetics Flash Facts
3035
Glucose-6-phosphate dehydrogenase
Genetics Flash Facts
3036
Q1519:What is/are the MAJOR REGULATORY ENZYME
of cholesterol synthesis?
Genetics Flash Facts
3037
HMG-CoA reductase
Genetics Flash Facts
3038
Q1520:What is/are the MAJOR REGULATORY ENZYME
of lipogenesis?
Genetics Flash Facts
3039
Acetyl-CoA carboxylase
Genetics Flash Facts
3040
Q1521:What are the major ACTIVATORS of
phosphofructokinase-1 (3)?
Genetics Flash Facts
3041
AMP;Fructose-2;6-bisphosphate (liver);Fructose-1;6-
bisphosphate (muscle)
Genetics Flash Facts
3042
Q1522:What are the major ACTIVATORS of pyruvate
dehydrogenase (4)?
Genetics Flash Facts
3043
CoA;NAD;ADP;Pyruvate
Genetics Flash Facts
3044
Q1523:What is the major ACTIVATOR of pyruvate
carboxylase and phosphoenolpyruvate carboxykinase?
Genetics Flash Facts
3045
Acetyl-CoA
Genetics Flash Facts
3046
Q1524:What is the major ACTIVATOR of fructose-1;6-
bisphosphatase?
Genetics Flash Facts
3047
cAMP
Genetics Flash Facts
3048
Q1525:What are the major ACTIVATORS of glycogen
phosphorylase (2)?
Genetics Flash Facts
3049
cAMP;Ca2+ (muscle)
Genetics Flash Facts
3050
Q1526:What is the major ACTIVATOR of glucose-6-
phosphate dehydrogenase?
Genetics Flash Facts
3051
NADP+
Genetics Flash Facts
3052
Q1527:What is the major ACTIVATOR of acetyl-CoA
carboxylase
Genetics Flash Facts
3053
Citrate
Genetics Flash Facts
3054
Q1528:What are the INHIBITORS of citrate synthase (2)?
Genetics Flash Facts
3055
ATP;Long-chain acyl-CoA
Genetics Flash Facts
3056
Q1529:What are the INHIBITORS of phosphofructokinase-1
(3)?
Genetics Flash Facts
3057
Citrate (fatty acids; ketone bodies);ATP;cAMP
Genetics Flash Facts
3058
Q1530:What are the INHIBITORS of pyruvate
dehydrogenase (3)?
Genetics Flash Facts
3059
Acetyl-CoA;NADH;ATP (fatty acids; ketone bodies)
Genetics Flash Facts
3060
Q1531:What is the INHIBITOR of pyruvate carboxylase and
phosphoenolpyruvate carboxykinase?
Genetics Flash Facts
3061
ADP
Genetics Flash Facts
3062
Q1532:What are the INHIBITORS of fructose-1;6-
bisphosphatase (2)?
Genetics Flash Facts
3063
AMP;Fructose-2;6-bisphosphatase
Genetics Flash Facts
3064
Q1533:What are the INHIBITORS of glycogen synthase (3)?
Genetics Flash Facts
3065
Phosphorylase (liver);cAMP (muscle);Ca2+ (muscle)
Genetics Flash Facts
3066
Q1534:What is the INHIBITOR of glucose-6-phosphate
dehydrogenase?
Genetics Flash Facts
3067
NADPH
Genetics Flash Facts
3068
Q1535:What are the INHIBITORS of acetyl-CoA
carboxylase (2)?
Genetics Flash Facts
3069
Long-chain acyl-CoA;cAMP
Genetics Flash Facts
3070
Q1536:What are the INHIBITORS of HMG-CoA reductase
(2)?
Genetics Flash Facts
3071
Cholesterol;cAMP
Genetics Flash Facts
3072
Q1537:What two rate-limiting enzymes are INHIBITED by
long-chain acyl-CoA?
Genetics Flash Facts
3073
Citrate synthase;Acetyl-CoA carboxylase
Genetics Flash Facts
3074
Q1538:What two rate-limiting enzymes are ACTIVATED by
cAMP?
Genetics Flash Facts
3075
Fructose-1;6-bisphosphatase;Glycogen phosphorylase
Genetics Flash Facts
3076
Q1539:What is Type I Familial Dyslipidemia?
Genetics Flash Facts
3077
hyperchylomicronemia
Genetics Flash Facts
3078
Q1540:What is Type IIa Familial Dyslipidemia?
Genetics Flash Facts
3079
hypercholesterolemia
Genetics Flash Facts
3080
Q1541:What is Type IIb Familial Dyslipidemia?
Genetics Flash Facts
3081
combined hyperlipidemia
Genetics Flash Facts
3082
Q1542:What is Type III Familial Dyslipidemia?
Genetics Flash Facts
3083
dysbetalipoproteinemia
Genetics Flash Facts
3084
Q1543:What is Type IV Familial Dyslipidemia?
Genetics Flash Facts
3085
hypertriglyceridemia
Genetics Flash Facts
3086
Q1544:What is Type V Familial Dyslipidemia?
Genetics Flash Facts
3087
mixed hypertriglyceridemia
Genetics Flash Facts
3088
Q1545:What is the INHERITANCE of Type IIa Familial
dyslipidemia? (hypercholesterolemia)
Genetics Flash Facts
3089
autosomal dominant
Genetics Flash Facts
3090
Q1546:What is INCREASED in Type I Familial
Dyslipidemia?
Genetics Flash Facts
3091
chylomicrons
Genetics Flash Facts
3092
Q1547:What is INCREASED in Type IIa Familial
Dyslipidemia (hypercholesterolemia)?
Genetics Flash Facts
3093
LDL
Genetics Flash Facts
3094
Q1548:What is INCREASED in Type Iib Familial
Dyslipidemia (combined hyperlipidemia)?
Genetics Flash Facts
3095
LDL; VDL
Genetics Flash Facts
3096
Q1549:What is INCREASED in Type III Familial
Dyslipidemia (dysbetalipoproteinemia)?
Genetics Flash Facts
3097
IDL; VLDL
Genetics Flash Facts
3098
Q1550:What is INCREASED in Type IV Familial
Dyslipidemia (hypertriglyceridemia)?
Genetics Flash Facts
3099
VLDL
Genetics Flash Facts
3100
Q1551:What is INCREASED in Type V Familial
Dyslipidemia (mixed hypertriglyceridemia)?
Genetics Flash Facts
3101
VLDL; chylomicrons
Genetics Flash Facts
3102
Q1552:Type I hyperchylomicronemia ELEVATED BLOOD
LEVELS?
Genetics Flash Facts
3103
TG; cholesterol
Genetics Flash Facts
3104
Q1553:Type IIa hypercholesterolemia ELEVATED BLOOD
LEVELS?
Genetics Flash Facts
3105
cholesterol
Genetics Flash Facts
3106
Q1554:Type IIb combined hyperlipidemia ELEVATED
BLOOD LEVELS?
Genetics Flash Facts
3107
TG; cholesterol
Genetics Flash Facts
3108
Q1555:Type III dysbetalipoproteinemia ELEVATED
BLOOD LEVELS?
Genetics Flash Facts
3109
TG; cholesterol
Genetics Flash Facts
3110
Q1556:Type IV hypertriglyceridemia ELEVATED BLOOD
LEVELS?
Genetics Flash Facts
3111
TG
Genetics Flash Facts
3112
Q1557:Type V mixed hypertriglyceridemia ELEVATED
BLOOD LEVELS?
Genetics Flash Facts
3113
TG; cholesterol
Genetics Flash Facts
3114
Q1558:Type I hyperchylomicronemia
PATHOPHYSIOLOGY?
Genetics Flash Facts
3115
Lipoprotein lipase deficiency; or altered apolipoprotein C-II
(co-factor for lipoprotein lipase)
Genetics Flash Facts
3116
Q1559:Type IIa hypercholesterolemia
PATHOPHYSIOLOGY?
Genetics Flash Facts
3117
DECREASE LDL receptors
Genetics Flash Facts
3118
Q1560:Type IIb combined hyperlipidemia
PATHOPHYSIOLOGY?
Genetics Flash Facts
3119
hepatic OVERPRODUCTION of VLDL
Genetics Flash Facts
3120
Q1561:Type III dysbetalipoproteinemia
PATHOPHYSIOLOGY?
Genetics Flash Facts
3121
ALTERED apolipoprotein E
Genetics Flash Facts
3122
Q1562:Type IV hypertriglyceridemia
PATHOPHYSIOLOGY?
Genetics Flash Facts
3123
hepatic OVERPRODUCTION of VLDL
Genetics Flash Facts
3124
Q1563:Type V mixed hypertriglyceridemia
PATHOPHYSIOLOGY?
Genetics Flash Facts
3125
INCREASE production/DECREASE clearance of VLDL and
chylomicrons
Genetics Flash Facts
3126
Q1564:Vit A too much
Genetics Flash Facts
3127
arthralgias; fatigue; headache; skin changes; sore throat;
alopecia
Genetics Flash Facts
3128
Q1565:dry beriberi
Genetics Flash Facts
3129
polyneuritis; muscle wasting
Genetics Flash Facts
3130
Q1566:wet beriberi
Genetics Flash Facts
3131
dilated cardiomyopathy; edema
Genetics Flash Facts
3132
Q1567:B2 deficiency
Genetics Flash Facts
3133
angular stomatitis; cheilosis; corneal vascularization
Genetics Flash Facts
3134
Q1568:B3 deficiency
Genetics Flash Facts
3135
pellagra; diarrhea; dermatitis; dementia; beefy glossitis.
Genetics Flash Facts
3136
Q1569:causes of pellegra
Genetics Flash Facts
3137
hartnup disease (dec tryptophan absorbtion); malignant
carcinoid syndrome (increased trypophan metabolism); and
INH (decreased B6)
Genetics Flash Facts
3138
Q1570:B5 deficiency
Genetics Flash Facts
3139
dermatitis; enteritis; alopecia; adrenal insufficiency.
Genetics Flash Facts
3140
Q1571:B6 deficiency
Genetics Flash Facts
3141
convulsions; hyperirritability; peripheral neuropathy.
Genetics Flash Facts
3142
Q1572:Sources of B6 deficiency
Genetics Flash Facts
3143
INH; oral contraceptives.
Genetics Flash Facts
3144
Q1573:B12 function
Genetics Flash Facts
3145
Homocysteine + N-methyl THF (B12) to Methionine +
THF; Methylmalonyl-CoA (B12) to Succinyl-CoA
Genetics Flash Facts
3146
Q1574:causes of B12 defiency
Genetics Flash Facts
3147
malabsorption (sprue; enteritis; Diphyllobothrium latum);
lack of IF (pernicious anemia); or absence of terminal ileum
(chron's)
Genetics Flash Facts
3148
Q1575:folic acid precursor in bacteria and use
Genetics Flash Facts
3149
PABA - sulfa drugs and dapsone are PABA analogs.
Genetics Flash Facts
3150
Q1576:biotin deficiency
Genetics Flash Facts
3151
dermatitis; enteritis
Genetics Flash Facts
3152
Q1577:causes of biotin defiency
Genetics Flash Facts
3153
antibiotic use; ingestion of raw eggs
Genetics Flash Facts
3154
Q1578:vit c deficiency
Genetics Flash Facts
3155
scurvy - swollen gums; bruising; anemia; poor wound healing.
Genetics Flash Facts
3156
Q1579:vit c 3 mech
Genetics Flash Facts
3157
hydroxylation of proline and lysine in collagen synthesis;
facilitates iron absorption by keeping iron in Fe+2 reduced
state; necessary as a cofactor for Dopamine to NE
Genetics Flash Facts
3158
Q1580:Types of Vit D
Genetics Flash Facts
3159
D2 - ergocalciferol; in milk; D3 - cholecalciferol; sun exposed
skin; 25-OH D3 - storage form; 1;25 (OH)2 D3 active form.
Genetics Flash Facts
3160
Q1581:Vit D def
Genetics Flash Facts
3161
Rickets kids (bending bones); osteomalacia in adults (soft
bones) and hypocalcemic tenatny
Genetics Flash Facts
3162
Q1582:Vit D function
Genetics Flash Facts
3163
increases Ca and Phosphate aborption.
Genetics Flash Facts
3164
Q1583:Vit D excess
Genetics Flash Facts
3165
Hypercalcemia; loss of appetitie; stupor. Sarcoid - epitheliod
macrophages convert Vit D into its active form.
Genetics Flash Facts
3166
Q1584:Vit E def
Genetics Flash Facts
3167
increases fragility of EEErythrocytes; neurodysfunction
Genetics Flash Facts
3168
Q1585:Vit E function
Genetics Flash Facts
3169
antioxidant (protects erythrocytes from hemolysis.
Genetics Flash Facts
3170
Q1586:sxs and causes of Vit K def
Genetics Flash Facts
3171
neonatal hemorrhage with increased PT/aPTT but normal
bleeding times - sterile intestine cant make Vit K
Genetics Flash Facts
3172
Q1587:Vit K dependent factors
Genetics Flash Facts
3173
2;7;9;10
Genetics Flash Facts
3174
Q1588:Vit K antagonist
Genetics Flash Facts
3175
warfarin
Genetics Flash Facts
3176
Q1589:Vit K function
Genetics Flash Facts
3177
Catalyzes (gamma)-carboxylation of glutamic acid residues on
various proteins concerned with blood clotting.
Genetics Flash Facts
3178
Q1590:Zinc deficiency
Genetics Flash Facts
3179
Delayed wound healing; hypogonadism; dec adult hair; may
predispose to alcoholic cirrhosis.
Genetics Flash Facts
3180
Q1591:ETOH metabolism
Genetics Flash Facts
3181
ETOH (alcohol dehydrogenase) to acetaldehyde (acetaldehyde
dehydrogenase) to acetate. Both require NAD+ which goes to
NADH
Genetics Flash Facts
3182
Q1592:ETOH met rate limiting reagent
Genetics Flash Facts
3183
NAD+
Genetics Flash Facts
3184
Q1593:alcohol dehydrogenase kinetics
Genetics Flash Facts
3185
zero order
Genetics Flash Facts
3186
Q1594:Antabuse mech
Genetics Flash Facts
3187
inhibits acetaldehyde dehydrogenase
Genetics Flash Facts
3188
Q1595:EtOH hypoglycemia
Genetics Flash Facts
3189
ETOH metabolism increases NADH/NAD+ ratio in liver -
pyruvate to lactate and OAA to malate - inhibits
gluconeogensis and thus hypoglycemia - fatty acid synthesis -
hepatocellular steatosis (hepatic fatty change)
Genetics Flash Facts
3190
Q1596:Kwashiorkor
Genetics Flash Facts
3191
MEAL - malabsorption; edema; anemia; liver (fatty) - protein
malnutrition
Genetics Flash Facts
3192
Q1597:Marasmus
Genetics Flash Facts
3193
energy malnutrition - tissue and muscle wasting; loss of
subcut fat; variable edema
Genetics Flash Facts
3194
Q1598:Von Gierke's disease;Deficient enzyme
Genetics Flash Facts
3195
glucose-6-phosphatase
Genetics Flash Facts
3196
Q1599:Von Gierke's disease;Findings
Genetics Flash Facts
3197
Type I glycogen storage disease;Severe fasting hypoglycemia;
increased glycogen in liver; increased blood lactate;
hepatomegaly
Genetics Flash Facts
3198
Q1600:Pompe's disease;Deficient enzyme
Genetics Flash Facts
3199
Lysosomal alpha-1-4-glucosidase (acid maltase)
Genetics Flash Facts
3200
Q1601:Pompe's disease;Findings
Genetics Flash Facts
3201
Type II glycogen storage disease;Cardiomegaly and systemic
findings leading to early death;Pompe's trashes the Pump
(heart; liver and muscle)
Genetics Flash Facts
3202
Q1602:Cori's disease;Deficient enzyme
Genetics Flash Facts
3203
Debranching enzyme; alpha-1;6-glucosidase
Genetics Flash Facts
3204
Q1603:Cori's disease;Findings
Genetics Flash Facts
3205
milder form of type I (Von Gierke's disease) with normal
blood lactate levels;Gluconeogenesis is intact
Genetics Flash Facts
3206
Q1604:McArdle's disease;Deficient enzyme
Genetics Flash Facts
3207
Skeletal muscle glycogen phosphorylase
Genetics Flash Facts
3208
Q1605:McArdle's disease;Findings
Genetics Flash Facts
3209
increased glycogen in muscle; but cannot break it down;
leading to painful muscle cramps; myoglobinuria with
strenuous exercise;McArdles: think MUSCLE
Genetics Flash Facts
3210
Q1606:Fabry's disease;Deficient enzyme
Genetics Flash Facts
3211
Sphingolipidoses;alpha-galactosidase A;X-linked recessive!!!
Genetics Flash Facts
3212
Q1607:Fabry's disease;accumulated substrate
Genetics Flash Facts
3213
ceramide trihexoside;X-linked recessive!!!
Genetics Flash Facts
3214
Q1608:Fabry's disease;Findings
Genetics Flash Facts
3215
peripheral neuropathy of hands/feet; angiokeratomas;
cardiovascular/renal disease;X-linked recessive!!!
Genetics Flash Facts
3216
Q1609:Gaucher's disease;Deficient enzyme
Genetics Flash Facts
3217
beta-glucocerebrosidase!!;AR
Genetics Flash Facts
3218
Q1610:Gaucher's disease;Accumulated substrate
Genetics Flash Facts
3219
Glucocerebroside
Genetics Flash Facts
3220
Q1611:Gaucher's disease;Findings
Genetics Flash Facts
3221
AR!!;hepatosplenomegaly; aseptic necrosis of the femur;
bone crises; Gaucher's cells (macrophages that look like
crumpled paper)
Genetics Flash Facts
3222
Q1612:Niemann-Pick disease;Deficient enzyme
Genetics Flash Facts
3223
Sphingomyelinase
Genetics Flash Facts
3224
Q1613:Niemann-Pick disease;Accumulated substrate
Genetics Flash Facts
3225
Sphingomyelin;AR
Genetics Flash Facts
3226
Q1614:Niemann-Pick disease;Findings
Genetics Flash Facts
3227
progressive neurodegeneration; hepatosplenomegaly; cherry-
red-spot (on macula); foam cells;AR!
Genetics Flash Facts
3228
Q1615:Tay-Sachs disease;Deficient enzyme
Genetics Flash Facts
3229
hexosaminidase
Genetics Flash Facts
3230
Q1616:Tay-Sachs disease;Accumulated substrate
Genetics Flash Facts
3231
GM2 ganglioside;AR
Genetics Flash Facts
3232
Q1617:Tay-Sachs disease;Findings
Genetics Flash Facts
3233
progressive neurodegeneration; developmental delay; cherry-
red spot; lysosomes with onion skin!!
Genetics Flash Facts
3234
Q1618:Krabbe's disease;Deficient enzyme
Genetics Flash Facts
3235
Galactocerebrosidase;AR
Genetics Flash Facts
3236
Q1619:Krabbe's disease;Accumulated substrate
Genetics Flash Facts
3237
galactocerebroside
Genetics Flash Facts
3238
Q1620:Krabbe's disease;Findings
Genetics Flash Facts
3239
peripheral neuropathy; developmental delay; optic atrophy;
globoid cells
Genetics Flash Facts
3240
Q1621:Metachromic leukodystrophy;Deficient enzyme
Genetics Flash Facts
3241
Arylsulfatase A
Genetics Flash Facts
3242
Q1622:Metachromic leukodystrophy;Accumulated substrate
Genetics Flash Facts
3243
Cerebroside sulfate
Genetics Flash Facts
3244
Q1623:Metachromic leukodystrophy;Findings
Genetics Flash Facts
3245
Central and peripheral demyelination with ataxia; dementia
Genetics Flash Facts
3246
Q1624:Mucopolysaccharidoses
Genetics Flash Facts
3247
Hurler's syndrome and Hunter's syndrome
Genetics Flash Facts
3248
Q1625:Hurler's syndrome;Deficient enzyme
Genetics Flash Facts
3249
alpha-L-iduronidase
Genetics Flash Facts
3250
Q1626:Hurler's syndrome;accumulated substrate
Genetics Flash Facts
3251
heparan sulfate; dermatan sulfate
Genetics Flash Facts
3252
Q1627:Hurler's syndrome;Findings
Genetics Flash Facts
3253
developmental delay; gargoylism; airway obstruction; corneal
clouding; hepatosplenomegaly
Genetics Flash Facts
3254
Q1628:Hunter's syndrome;Deficient enzyme
Genetics Flash Facts
3255
Mucopolysaccharidoses;iduronate sulfatase
Genetics Flash Facts
3256
Q1629:Hunter's syndrome;Accumulated substrate
Genetics Flash Facts
3257
heparan sulfate; dermatan sulfate
Genetics Flash Facts
3258
Q1630:Hunter's syndrome;Findings
Genetics Flash Facts
3259
XR!!!;mild-Hurler's (developmental delay; gargoylism; airway
obstruction; corneal clouding; hepatosplenomegaly) with
aggressive behavior; NO corneal clouding
Genetics Flash Facts
3260
Q1631:What are the FINDINGS in Fabry's disease?
Genetics Flash Facts
3261
1. peripheral neuropathy of hands/feet;2. angiokeratomas;3.
cardiovascular/renal disease
Genetics Flash Facts
3262
Q1632:What are the FINDINGS in Gaucher's disease?
Genetics Flash Facts
3263
1. hepatosplenomegaly;2. asceptic necrosis of femur;3. bone
crises;4. Gaucher's cells (macrophages)
Genetics Flash Facts
3264
Q1633:What are the FINDINGS in Niemann-Pick disease?
Genetics Flash Facts
3265
1. progressive neurodegeneration;2. hepatosplenomegaly;3.
cherry red spot (on macula)
Genetics Flash Facts
3266
Q1634:What are the FINDINGS in Tay-Sachs disease?
Genetics Flash Facts
3267
1. progressive neurodegeneration;2. developmental delay;3.
cherry-red spot;4. lysozymes with onion skin
Genetics Flash Facts
3268
Q1635:What are the FINDINGS in Krabbe's disease?
Genetics Flash Facts
3269
1. peripheral neuropathy;2. developmental delay;3. optic
atrophy
Genetics Flash Facts
3270
Q1636:What are the FINDINGS in Metachromatic
leukodystrophy disease?
Genetics Flash Facts
3271
1. Central and peripheral demyelination;2. ataxia;3. dementia
Genetics Flash Facts
3272
Q1637:What are the FINDINGS in Hurler's Syndrome?
Genetics Flash Facts
3273
1. Developmental delay;2. gargoylism;3. airway obstruction;4.
corneal clouding;5. hepatosplenomegaly
Genetics Flash Facts
3274
Q1638:What are the FINDINGS in Hunter's Syndrome?
Genetics Flash Facts
3275
1. aggressive behavior;2. NO corneal clouding;3. Mild
Hurler's;4. developmental delay;5. gargoylism;6. airway
obstruction;7. hepatosplenomegaly
Genetics Flash Facts
3276
Q1639:What is the DEFICIENT ENZYME in Fabry's
disease?
Genetics Flash Facts
3277
alpha-galactosidase A
Genetics Flash Facts
3278
Q1640:What is the DEFICIENT ENZYME in Gaucher's
disease?
Genetics Flash Facts
3279
beta-glucocerebrosidase
Genetics Flash Facts
3280
Q1641:What is the DEFICIENT ENZYME in Niemann-Pick
disease?
Genetics Flash Facts
3281
sphingomyelinase;"NO MAN PICKS (NIEMANN-PICK)
his nose with his SPHINGER (SPHINGOMYELINASE)."
Genetics Flash Facts
3282
Q1642:What is the DEFICIENT ENZYME in Tay-Sach's
disease?
Genetics Flash Facts
3283
Hexosaminidase A;;"Tay-SaX (TAY-SACHS) lacks
heXosaminidase."
Genetics Flash Facts
3284
Q1643:What is the DEFICIENT ENZYME in Krabbe's
disease?
Genetics Flash Facts
3285
beta-galactosidase
Genetics Flash Facts
3286
Q1644:What is the DEFICIENT ENZYME in Metachromatic
Leukodystrophy disease?
Genetics Flash Facts
3287
Arylsulfatase A
Genetics Flash Facts
3288
Q1645:What is the DEFICIENT ENZYME in Hurler's
syndrome?
Genetics Flash Facts
3289
alpha-L-iduronidase
Genetics Flash Facts
3290
Q1646:What is the DEFICIENT ENZYME in Hunter's
syndrome?
Genetics Flash Facts
3291
Iduronate sulfatase
Genetics Flash Facts
3292
Q1647:What is the ACCUMULATED SUBSTRATE in
Fabry's disease?
Genetics Flash Facts
3293
Ceramide trihexoside
Genetics Flash Facts
3294
Q1648:What is the ACCUMULATED SUBSTRATE in
Gaucher's disease?
Genetics Flash Facts
3295
glucocerebroside
Genetics Flash Facts
3296
Q1649:What is the ACCUMULATED SUBSTRATE in
Niemann-Pick disease?
Genetics Flash Facts
3297
Sphingomyelin
Genetics Flash Facts
3298
Q1650:What is the ACCUMULATED SUBSTRATE in
Tay-Sachs disease?
Genetics Flash Facts
3299
GM2 ganglioside
Genetics Flash Facts
3300
Q1651:What is the ACCUMULATED SUBSTRATE in
Krabbe's disease?
Genetics Flash Facts
3301
Galactocerebroside
Genetics Flash Facts
3302
Q1652:What is the ACCUMULATED SUBSTRATE in
Metachromatic Leukodystrophy?
Genetics Flash Facts
3303
Cerebroside sulfate
Genetics Flash Facts
3304
Q1653:What is the ACCUMULATED SUBSTRATE in
Hurler's syndrome?
Genetics Flash Facts
3305
1. Heparan sulfate;2. Dermatan sulfate
Genetics Flash Facts
3306
Q1654:What is the ACCUMULATED SUBSTRATE in
Hunter's syndrome?
Genetics Flash Facts
3307
1. Heparan sulfate;2. Dermatan sulfate
Genetics Flash Facts
3308
Q1655:What is the INHERITANCE of Fabry's disease?
Genetics Flash Facts
3309
XLR
Genetics Flash Facts
3310
Q1656:What is the INHERITANCE of Gaucher's disease?
Genetics Flash Facts
3311
AR
Genetics Flash Facts
3312
Q1657:What is the INHERITANCE of Niemann-Pick
disease?
Genetics Flash Facts
3313
AR
Genetics Flash Facts
3314
Q1658:What is the INHERITANCE of Tay Sach's disease?
Genetics Flash Facts
3315
AR
Genetics Flash Facts
3316
Q1659:What is the INHERITANCE of Krabbe's disease?
Genetics Flash Facts
3317
AR
Genetics Flash Facts
3318
Q1660:What is the INHERITANCE of Metachromatic
Leukodystrophy disease?
Genetics Flash Facts
3319
AR
Genetics Flash Facts
3320
Q1661:What is the INHERITANCE of Hurler's syndrome?
Genetics Flash Facts
3321
AR
Genetics Flash Facts
3322
Q1662:What is the INHERITANCE of Hunter's syndrome?
Genetics Flash Facts
3323
XLR;;"HUNTERS aim for the X";(XLR)
Genetics Flash Facts
3324
Q1663:What lysosomal storage dz has renal failure?
Genetics Flash Facts
3325
Fabry
Genetics Flash Facts
3326
Q1664:What lysosomal dz has optic atrophy; spasticity and
early death?
Genetics Flash Facts
3327
Krabbe
Genetics Flash Facts
3328
Q1665:Lysosomal Dz that is compatible with a normal life
usually?
Genetics Flash Facts
3329
Gaucher's Dz
Genetics Flash Facts
3330
Q1666:Lysosomal Dz w/ increase in sphingomyelin and
cholesterol in reticuloendothelial and parenchymal cells?
Genetics Flash Facts
3331
Niemann-Pick Dz
Genetics Flash Facts
3332
Q1667:What lysosomal Dz has cherry-red spot on macula?
Genetics Flash Facts
3333
Tay-Sachs Dz;Take them in the Sack (the cherries)
Genetics Flash Facts
3334
Q1668:What lysosomal Dz has accumulation of sulfatide in
brain; kidney; liver and peripheral nerves?
Genetics Flash Facts
3335
Metachromatic Leukodystrophy
Genetics Flash Facts
3336
Q1669:What enzyme is deficient in Fabry's Dz?
Genetics Flash Facts
3337
alfa-galactosidase
Genetics Flash Facts
3338
Q1670:What accumulates in Fabry's Dz?
Genetics Flash Facts
3339
ceramide trihexoside
Genetics Flash Facts
3340
Q1671:What mode of inheritane is Fabry's Dz?
Genetics Flash Facts
3341
X-linked
Genetics Flash Facts
3342
Q1672:What enzyme is deficient in Krabbe's?
Genetics Flash Facts
3343
beta-galactosidase
Genetics Flash Facts
3344
Q1673:What accumulates in Krabbe?
Genetics Flash Facts
3345
beta-galactocerebroside
Genetics Flash Facts
3346
Q1674:What enzyme is deficient in Krabbe?
Genetics Flash Facts
3347
beta-galatosidase
Genetics Flash Facts
3348
Q1675:What enzyme is deficient in Gaucher's Dz?
Genetics Flash Facts
3349
beta-Glucocerebrosidase
Genetics Flash Facts
3350
Q1676:What accumulates in Gaucher's?
Genetics Flash Facts
3351
glucocerebroside
Genetics Flash Facts
3352
Q1677:What enzyme is deficient in Niemann-Pick?
Genetics Flash Facts
3353
Sphyngomyelinase
Genetics Flash Facts
3354
Q1678:What accumulates in Neimann-Pick's?
Genetics Flash Facts
3355
sphingomyelin and cholesterol
Genetics Flash Facts
3356
Q1679:What enzyme is deficient in Tay-Sachs?
Genetics Flash Facts
3357
Hexosaminidase A
Genetics Flash Facts
3358
Q1680:WHat accumulates in Tay-Sach's Dz?
Genetics Flash Facts
3359
GM2 ganglioside
Genetics Flash Facts
3360
Q1681:What enzyme is deficient in Metachromatic
Leukodystrophy?
Genetics Flash Facts
3361
ArylSulfatase A
Genetics Flash Facts
3362
Q1682:What accumulates in Metachromatic
Leukodystrophy?
Genetics Flash Facts
3363
Sulfatide
Genetics Flash Facts
3364
Q1683:What enzyme is deficient in Hurler's Sx?
Genetics Flash Facts
3365
alpha-L-iduronidase
Genetics Flash Facts
3366
Q1684:What accumulates in Hurler's Sx?
Genetics Flash Facts
3367
Increase in dermatan sulfate
Genetics Flash Facts
3368
Q1685:What enzyme is deficient in Hunter's?
Genetics Flash Facts
3369
iduronate sulfatase
Genetics Flash Facts
3370
Q1686:What accumulates in Hunter's?
Genetics Flash Facts
3371
Heparan Sulfate
Genetics Flash Facts
3372
Q1687:What are the two Lysosomal Storage Dz that are X-
linked?
Genetics Flash Facts
3373
Fabry's X and Hunter's X
Genetics Flash Facts
3374
Q1688:What lysosomal Dz has corneal clouding and mental
retardation?
Genetics Flash Facts
3375
Hurler's Sx
Genetics Flash Facts
3376
Q1689:What lysosomal Dz has mild mental retardation?
Genetics Flash Facts
3377
Hunter's Sx;the hunter needs to see what he is shooting; So
NO corneal clouding;
Genetics Flash Facts
3378
Q1690:What lysosomal Dz has gargoyle facies?
Genetics Flash Facts
3379
Hurler's Dz
Genetics Flash Facts
3380
Q1691:What lysosomal dz has flaring of the distal femur?
(Like Erlehnmeyer Flask)
Genetics Flash Facts
3381
Gaucher's Dz
Genetics Flash Facts
3382
Q1692:What two lysosomal Dz are associated with Jews?
Genetics Flash Facts
3383
Tay-Sach's and Gaucher's Dz
Genetics Flash Facts
3384
Q1693:Hormones dived into?
Genetics Flash Facts
3385
Water soluble;Lipid Soluble
Genetics Flash Facts
3386
Q1694:Water solubles have receptor where?
Genetics Flash Facts
3387
Membrane Receptor
Genetics Flash Facts
3388
Q1695:WHere is the receptor in lipid soluble hormones?
Genetics Flash Facts
3389
Inside the cell
Genetics Flash Facts
3390
Q1696:What hormones require phosphorylation?
Genetics Flash Facts
3391
Water Soluble
Genetics Flash Facts
3392
Q1697:How is gene expression controlled in Water Soluble?
Genetics Flash Facts
3393
cAMP response element binding (CREB) protein
Genetics Flash Facts
3394
Q1698:What proteins are used in Water Soluble Hormones?
Genetics Flash Facts
3395
Leucine Zipper
Genetics Flash Facts
3396
Q1699:What protein is used for Lipid Soluble Hormones?
Genetics Flash Facts
3397
Zinc Finger Protein
Genetics Flash Facts
3398
Q1700:What are the water soluble hormones?
Genetics Flash Facts
3399
Insulin ;Glucagon;Catecholamines (NE; EPi)
Genetics Flash Facts
3400
Q1701:What are examples of lipid soluble?
Genetics Flash Facts
3401
Steroids;Calcitriol ---> Vit D;Thyroxines (thinks is
steroid);Retinoic Acid ----> Vit A.
Genetics Flash Facts
3402
Q1702:What do you think of with watersoluble hormones?
Genetics Flash Facts
3403
Male;Receptor Outside (penis);Zipper (Leucine Zipper)
Genetics Flash Facts
3404
Q1703:WHat do you think of with Lipid Soluble hormones?
Genetics Flash Facts
3405
Female;Receptor Inside;Zinc Finger Protein
Genetics Flash Facts
3406
Q1704:What receptors use Glucagon and Epinephrine?
Genetics Flash Facts
3407
cAMP pathway
Genetics Flash Facts
3408
Q1705:What are all the messenger involved in cAMP?
Genetics Flash Facts
3409
Gs Adenylate Cyclase ----> Protein Kinase ;Gi alpha2 beta2
2MAD
Genetics Flash Facts
3410
Q1706:What are pathway is used in Vasopressin and
Epinephrine (alpha 1)?
Genetics Flash Facts
3411
PIP2;PIMP
Genetics Flash Facts
3412
Q1707:Gq involves?
Genetics Flash Facts
3413
HAMMV (hummer);Gq magazine;Think C or
K;Phospholipase C;Protein kinase C;DAG; IP3; Ca+
Genetics Flash Facts
3414
Q1708:What pathway does Atrial Natriuretic Factor (ANF)
and Nitric Oxide (NO) use?
Genetics Flash Facts
3415
cGMP
Genetics Flash Facts
3416
Q1709:What pathway does Insulin use?
Genetics Flash Facts
3417
INsulin; growth factors ;via Tyrosine Kinase
Genetics Flash Facts
3418
Q1710:What do you see in the PIMP system? (PIP2)
Genetics Flash Facts
3419
Gq magazine;Cicis; C C C;Phospholipase C;Protein Kinase
C;Ca+
Genetics Flash Facts
3420
Q1711:Who activates the Ca+ release in the Endoplasmic
Reticulum E.R.?
Genetics Flash Facts
3421
IP3 activates Ca+ release
Genetics Flash Facts
3422
Q1712:What does Ca+ activates what in the PIP2 system?
Genetics Flash Facts
3423
Protein Kinase C
Genetics Flash Facts
3424
Q1713:What membrane enzyme is used in the ANF or NO?
Genetics Flash Facts
3425
Guanylate Cyclase
Genetics Flash Facts
3426
Q1714:If you want to;
Genetics Flash Facts
3427
Use Guanylate Cyclase
Genetics Flash Facts
3428
Q1715:Guanylate cyclase activates what?
Genetics Flash Facts
3429
cGMP ;G is nice to get some;
Genetics Flash Facts
3430
Q1716:cGMP activates what?
Genetics Flash Facts
3431
Protein Kinase G
Genetics Flash Facts
3432
Q1717:What does Protein Kinase G do?
Genetics Flash Facts
3433
Relaxes Smooth Muscle;;Relax and ENjoy the RIDE!
Genetics Flash Facts
3434
Q1718:Where is nitrous oxide found?
Genetics Flash Facts
3435
Heme membrane
Genetics Flash Facts
3436
Q1719:HOw does insulin activate hormone receptors?
Genetics Flash Facts
3437
Via Tyrosine Kinase
Genetics Flash Facts
3438
Q1720:WHat do you find in the membrane for Insulin?
Genetics Flash Facts
3439
Two beta subunits;cross membrane;;2 membrane helix
span;unlike ANF that has 1 membrane helix span
Genetics Flash Facts
3440
Q1721:What is unique about the cAMP and PIP2 system?
Genetics Flash Facts
3441
THey both have a 7 membrane helix span receptor
Genetics Flash Facts
3442
Q1722:What enzyme of the hormone receptor has only 1
membrane span?
Genetics Flash Facts
3443
ANF;guanylate cyclase
Genetics Flash Facts
3444
Q1723:What hormone receptor has 2 membrane helix span?
Genetics Flash Facts
3445
INsulin;Tyrosine Kinase
Genetics Flash Facts
3446
Q1724:Where does Nitrous Oxide (NO) come from? a.a.?
Genetics Flash Facts
3447
Arginine
Genetics Flash Facts
3448
Q1725:What are some drugs that increase NO?
Genetics Flash Facts
3449
nitroprusside;Nitroglycerine;Isosorbide dinitrate;Viagra
(Sildenafil);Agina
Genetics Flash Facts
3450
Q1726:Where is glut 4 found?
Genetics Flash Facts
3451
Adipose;Muscle;Not Liver Glut-1
Genetics Flash Facts
3452
Q1727:What happens if there is a mutation that increases G
protein?
Genetics Flash Facts
3453
Oncogenic;activation of ras (p21 monomeric);gsp (G2 alpha)
Genetics Flash Facts
3454
Q1728:What is involved in the p21ras oncogene?
Genetics Flash Facts
3455
Colon;Lung;Breast;Bladder ;ALL TUMORS!!!;liked to
Tyrosine Kinase;G protein!!!
Genetics Flash Facts
3456
Q1729:WHat is the mechanism for glucocorticods to cause
DM?
Genetics Flash Facts
3457
They increase PEPCK activity via response elements causing
increase gluconeogenesis;increase in glucose---> DM;via Zinc
Finger Proteins
Genetics Flash Facts
3458
Q1730:Which enzyme does Insulin activate in glucose related
metabolism?
Genetics Flash Facts
3459
Glycogen Synthase;glucose is stored;glycogen is made;you are
in a well-fed state;just ate
Genetics Flash Facts
3460
Q1731:Which enzyme is activated when glucagon is present?
Genetics Flash Facts
3461
Glycogen Phosphorylase is activated;degrages glycogen --->
glucose;increase the release of glucose;you are starving
Genetics Flash Facts
3462
Q1732:TCA cycle intermediates
Genetics Flash Facts
3463
Can I Keep Selling Sex For Money;
Officer?;Citrate;Isocitrate;alpha-Ketoglutarate;Succinyl-
CoA;Succinate;Fumarate;Malate;Oxaloacetate
Genetics Flash Facts
3464
Q1733:Regulated glycolytic enzymes
Genetics Flash Facts
3465
Hexokinase (-G6P);Glucokinase (+insulin);PFK1 (-citrate -
ATP +AMP +F-2;6-BP);Pyruvate kinase (-Ala; -ATP; +F-
1;6-BP);Pyruvate dehydrogenase (-ATP; -NADH; -Acetyl-
CoA)
Genetics Flash Facts
3466
Q1734:Regulated TCA cycle steps
Genetics Flash Facts
3467
Citrate synthetase (-ATP);Isocitrate dehydrogenase (+ADP; -
ATP; -NADH);Alpha-KG dehydrogenase (-NADH; -ATP; -
succinyl CoA)
Genetics Flash Facts
3468
Q1735:Lesch-Nyhan syndrome
Genetics Flash Facts
3469
HGPRT deficiency; can'd do purine salvage pathway; get uric
aciduria. X-linked
Genetics Flash Facts
3470
Q1736:I cell disease
Genetics Flash Facts
3471
Lack of mannose-6-phosphate transfer enzyme in golgi
network means can't tag lysosomal enzymes for traffic to
lysosome. Get secreted instead->coarse facies; early death
Genetics Flash Facts
3472
Q1737:Energy from TCA cycle per acetyl CoA
Genetics Flash Facts
3473
3 NADH --> 9 ATP;1 FADH2 --> 2 ATP;1 GTP --> 1
ATP;12 ATP/cycle via oxidative phosphorylation
Genetics Flash Facts
3474
Q1738:Galactosemia
Genetics Flash Facts
3475
Mild: Galactokinase deficiency->galactitol->childhood
cataracts;Severe: Gal-1P uridyl transferase deficiency-> very
high galactitol->liver damage; galactosemia; galacturia;
cataracts; mental retardation ;Tx both w/glucose & lactose free
diet
Genetics Flash Facts
3476
Q1739:Fructosuria
Genetics Flash Facts
3477
Fructokinase deficiency: benign fructosuria;Fructose
intolerance: Lack of aldolase B to convert F1P to DHAP and
glyceraldehyde->vomiting w/fructose load; mental retardation;
etc.
Genetics Flash Facts
3478
Q1740:Cofactors for PDH and a-KGDH
Genetics Flash Facts
3479
Vitamin B1->thiamine->TPP;Vitamin B2->riboflavin-
>FAD+;Vitamin B3->niacin->NAD+;Vitamin B5-
>pentothenate->CoA;Lipoic acid
Genetics Flash Facts
3480
Q1741:Cori cycle
Genetics Flash Facts
3481
1) Anaerobic glycolysis in muscle to pyruvate;2)Pyruvate ->
lactate to regenerate NAD+;3) Lactate to liver via blood;4)
Lacate converted back to pyruvate and then to glucose by
gluconeogenesis (6 ATP);5) Glucose sent back to muscle in
blood
Genetics Flash Facts
3482
Q1742:Energy yield of anaerobic glycolysis
Genetics Flash Facts
3483
2 ATP;Reducing equivalents in NADH used to convert
pyruvate to lactate via LDH to regenerate NAD+ to keep
running glycolysis
Genetics Flash Facts
3484
Q1743:Hexokinase vs glucokinase
Genetics Flash Facts
3485
Hexokinase: all cells; inhib'd by G6P;Glucokinase: liver & islet
cells; stim'd by insulin with lower Km but higher Vmax-
>glucose storage and
Genetics Flash Facts
3486
Q1744:SAM
Genetics Flash Facts
3487
S-adenosyl methionine;ATP+Met-->SAM->-
>Homocysteine;Need B12 & folate to regenerate methionine
from ATP;Regeneration of methionine is how B12 converts
dietary folate into form usable by purine synth and
thymidylate synthase
Genetics Flash Facts
3488
Q1745:GPCRs that signal via Gs
Genetics Flash Facts
3489
Gs stims cAMP synth;B1->inotrope/chronotrope;B2->SMC
relaxation;H2->stomach;V2->aquaporin insertion in
kidney;D1
Genetics Flash Facts
3490
Q1746:GPCRs that signal via Gq
Genetics Flash Facts
3491
Gq > PLC > DAG+IP3 > PKC & Ca2+;H1->allergy;a1-
>vasoconstrict;V1->vasoconstrict;M1;M3
Genetics Flash Facts
3492
Q1747:GPCRs that signal via Gi
Genetics Flash Facts
3493
Gi inhibs cAMP synth;M2;a2;D2
Genetics Flash Facts
3494
Q1748:Collagen types
Genetics Flash Facts
3495
Type 1: classic (bone; skin);Type 2: cartilage/joints;
hyaline;Type 3: Reticulin (skin etc); granulation tissue;Type
4: basement membranes
Genetics Flash Facts
3496
Q1749:Electron transport chain
Genetics Flash Facts
3497
NADH > e- > ;Complex I > H+ ;CoQ ;FADH2 > e- >
Complex II >CoQ;complex III > H+;Cyt C;Complex IV > H+
+ O2;H+ > ATP synthase > ATP
Genetics Flash Facts
3498
Q1750:Oligomycin
Genetics Flash Facts
3499
Inhibs ATP synthase > can't dissipate H+ gradient > ETC
machinery gets backed up and stopped > ROS
Genetics Flash Facts
3500
Q1751:2;4-dinitrophenol
Genetics Flash Facts
3501
Allows H+ to leak out of mitochondrial matrix > uncouples
electron transport from ATP synthesis gradient
Genetics Flash Facts
3502
Q1752:Rotenone
Genetics Flash Facts
3503
Inhibs e- transport > stops ETC > reduces proton gradient
Genetics Flash Facts
3504
Q1753:Cyanide
Genetics Flash Facts
3505
Inhibs e- transport > stops ETC > reduces proton gradient
Genetics Flash Facts
3506
Q1754:Irreversible gluconeogenesis enzymes
Genetics Flash Facts
3507
Pyruvate carboxylase (mitochondria;PEP
carboxykinase;Fructose-2;6-bisphosphatase;Glucose-6-
phosphatase (liver only)
Genetics Flash Facts
3508
Q1755:von Gierke's disease
Genetics Flash Facts
3509
Type I glycogen storage disease;Glucose-6-phosphatase
deficiency;Liver can't export glucose;-Glycogen accum-
>hepatomegaly;-Hypoglycemia;-Lactic acidosis
Genetics Flash Facts
3510
Q1756:Essential amino acids
Genetics Flash Facts
3511
PVT TIM
HALL;Phenylalanine;Valine;Tryptophan;Threonine;Isoleucin
e;Methionine;Histidine;Arginine;Leucine;Lysine
Genetics Flash Facts
3512
Q1757:PVT TIM HALL
Genetics Flash Facts
3513
Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi
onine;Histidine;Arginine;Lysine;Leucine
Genetics Flash Facts
3514
Q1758:Purely ketogenic amino acids
Genetics Flash Facts
3515
Leucine & lysine only. Both are also essential
Genetics Flash Facts
3516
Q1759:Purely glucogenic essential AA:
Genetics Flash Facts
3517
V-MATH;Valine; methionine; arginine; threonine; histidine
Genetics Flash Facts
3518
Q1760:Urea cycle
Genetics Flash Facts
3519
Ordinarily; Careless Crappers Are Also Frivolous About
Urination;Ornithine;Carbamoyl
phosphate;Citruline;Asparatate;Arginosuccinate;Fumarate;Ar
ginine;Urea
Genetics Flash Facts
3520
Q1761:Black urine
Genetics Flash Facts
3521
Alkaptonuria: can't break down homogentisic acid; a
metabolite of tyrosine
Genetics Flash Facts
3522
Q1762:Musty odor; pale skin; mental retardation
Genetics Flash Facts
3523
Phenylketonuria: can't convert phenylalanine (musty and
retarded) to tyrosine (pale)
Genetics Flash Facts
3524
Q1763:Cystinuria frequency
Genetics Flash Facts
3525
4.902777778
Genetics Flash Facts
3526
Q1764:Cystinuria defect
Genetics Flash Facts
3527
COLA;Defect of AA transporter responsible for resorption
of Cysteine; Ornithine; Lysine & Arginine from proximal
tubule
Genetics Flash Facts
3528
Q1765:Components of sucrose
Genetics Flash Facts
3529
Fructose + glucose
Genetics Flash Facts
3530
Q1766:Components of lactose
Genetics Flash Facts
3531
GaLactose + glucose
Genetics Flash Facts
3532
Q1767:Function of ApoA1
Genetics Flash Facts
3533
Cofactor for LCAT
Genetics Flash Facts
3534
Q1768:Function of ApoB
Genetics Flash Facts
3535
Binds LDLR
Genetics Flash Facts
3536
Q1769:Function of ApoCII
Genetics Flash Facts
3537
Cofactor for lipoprotein lipase
Genetics Flash Facts
3538
Q1770:Function of ApoE
Genetics Flash Facts
3539
Cofactor for lipoprotein binding to receptor for uptake
Genetics Flash Facts
3540
Q1771:Cherry red spot
Genetics Flash Facts
3541
Tay-Sachs disease; deficiency of hexosaminidase; so can't
degrade GM2 ganglioside;Also Nieman Pick disease;
deficiency of sphingomyelinase
Genetics Flash Facts
3542
Q1772:fat soluble
Genetics Flash Facts
3543
ADEK; absorption dependent on gut (ileum) and
pancreas;toxicity more common because they accumulate in
fat;malabsorption can cause def
Genetics Flash Facts
3544
Q1773:water soluble
Genetics Flash Facts
3545
B1; B2; B3; B5; B6; B12; C; biotin; folate;all wash out easily
from body except B12 which is stored in liver
Genetics Flash Facts
3546
Q1774:A def
Genetics Flash Facts
3547
night blindness; dry skin
Genetics Flash Facts
3548
Q1775:A function; exceess
Genetics Flash Facts
3549
constituent of visual pigment; arthralgias; fatigue; headahce;
skin change; sore throat; alopecia;found in leafy veggies
Genetics Flash Facts
3550
Q1776:B1 (thiamine) def
Genetics Flash Facts
3551
Beriberi and WK syndrome; seen in alcoholism and
malnutrition;dry: polyneuritis;wet: high output CF
Genetics Flash Facts
3552
Q1777:B1 function
Genetics Flash Facts
3553
cofactor for oxidative decarboxy of a-ketoacids; cofactor for
transketolase in HMP shunt
Genetics Flash Facts
3554
Q1778:B2 (riboflavin) def
Genetics Flash Facts
3555
angular stomatitis; cheilosis; corneal vascularization
Genetics Flash Facts
3556
Q1779:B2 function
Genetics Flash Facts
3557
cofactor in ox-red;FMN; FAD
Genetics Flash Facts
3558
Q1780:B3 def
Genetics Flash Facts
3559
pellagra can be caused by Hartnup disease (decreased tryp
absorption); malignant carcinoid syndrome and INH;sxs:
diarrhea; dermatitis; dementia
Genetics Flash Facts
3560
Q1781:B3 function
Genetics Flash Facts
3561
constituent of NAD; NADP;derived from tryp using B6
Genetics Flash Facts
3562
Q1782:B6 (pyridoxine) def
Genetics Flash Facts
3563
convulsions; hyperirritability (def induced by INH and OCP);
peripheral neuropathy
Genetics Flash Facts
3564
Q1783:B5 function
Genetics Flash Facts
3565
coverted to pyridoxal phosphate - transaminatiors (ALT;
AST); decarbox; heme synthesis
Genetics Flash Facts
3566
Q1784:B12 (cobalamin) def
Genetics Flash Facts
3567
macrocytic; megaloblastic anemia; neuro sxs (optic
neuropathy; subacute combined degeneration; parasthesia);
glossitis;def caused by: malabsorption; lack of IF; or absence
of terminal ileum;Schilling test to detect def;abnormal myelin
seen
Genetics Flash Facts
3568
Q1785:B12 function
Genetics Flash Facts
3569
cofactor for homocysteine methylation (transfers CH3
groups);stored in liver;very large reserve;synthesized by
microorganisms
Genetics Flash Facts
3570
Q1786:Folic acid def
Genetics Flash Facts
3571
most common vitamin def; macrocytic; megaloblastic
anemia;no neuro sxs
Genetics Flash Facts
3572
Q1787:folic acid function
Genetics Flash Facts
3573
coenzyme (tetrahydrofolate) for 1 carbon transfer; involved in
Me reactions;important for synthesis of nitrogenous bases in
DNA and RNA
Genetics Flash Facts
3574
Q1788:Biotin def
Genetics Flash Facts
3575
dermitits; enteritis; caused by antiobiotic use; ingestion of raw
eggs
Genetics Flash Facts
3576
Q1789:Biotin function
Genetics Flash Facts
3577
cofactor for caboxylations;pyruvate-->OAA;ACOA--
>MCoA;PCOA-->MMCoA
Genetics Flash Facts
3578
Q1790:Vit C def
Genetics Flash Facts
3579
scurvy- swollen gums; bruising; anemia; poor wound healing
Genetics Flash Facts
3580
Q1791:Vit C funciton
Genetics Flash Facts
3581
necessary for hydroxylation of proline and lysine in collagen
synthesis;facilitates iron absorption by keeping iron in Fe2
reduced state;necessary cofactor for DA-->NE
Genetics Flash Facts
3582
Q1792:Vit D def
Genetics Flash Facts
3583
rickets in children (bending bones); osteomalacia in adults
(soft bones); hypocalcemic tetany
Genetics Flash Facts
3584
Q1793:function vit D
Genetics Flash Facts
3585
increase intestinal absorption of Ca and P
Genetics Flash Facts
3586
Q1794:vit D excess
Genetics Flash Facts
3587
hypercalcemia; loss of appetite; stupor;seen in sarcoidosis-
disease where epithelial macrophages convert vit D into active
form
Genetics Flash Facts
3588
Q1795:storage form of vitamin D
Genetics Flash Facts
3589
25-OH D3
Genetics Flash Facts
3590
Q1796:active form of vit D
Genetics Flash Facts
3591
1; 25 (OH)2 D3
Genetics Flash Facts
3592
Q1797:vit D from milk
Genetics Flash Facts
3593
ergocalciferol; consumed in milk D2
Genetics Flash Facts
3594
Q1798:vit D from sun skin
Genetics Flash Facts
3595
cholecalciferol D3
Genetics Flash Facts
3596
Q1799:Vit E def
Genetics Flash Facts
3597
increased fragility of erythrocytes; neurodysfunction
Genetics Flash Facts
3598
Q1800:vit E function
Genetics Flash Facts
3599
antioxidant (protects erythrocytes from hemolysis)
Genetics Flash Facts
3600
Q1801:vit K def
Genetics Flash Facts
3601
neonatal hemorrhage with increased PT and PTT but normal
bleeding time because neonates have sterile intestines and are
unable to synthesize vit K
Genetics Flash Facts
3602
Q1802:vit K function
Genetics Flash Facts
3603
catalyzes gamma carboxylation of glutamic acid residues on
various proteins concerned with blood clotting;synthesized
by intestinal flora
Genetics Flash Facts
3604
Q1803:K dependent clotting factors
Genetics Flash Facts
3605
II; VII; IX; X;protein C and S;warfarin is vitamin K antagonist
Genetics Flash Facts
3606
Q1804:Zinc deficiency
Genetics Flash Facts
3607
delayed wound healing; hypogonadism; decreased adult hair;
may predispose to alcoholic cirrhosis
Genetics Flash Facts
3608
Q1805:Clinical characteristics of WK syndrome
Genetics Flash Facts
3609
ocular distrubances; nystagmus;gait ataxia;mental dysfunction
(confusion; apathy; listlessness; disorientation);Korsakoff
psychosis- retrograde recall; inability ot acquire new info
Genetics Flash Facts
3610
Q1806:ntureint def assoc with cheilosis; glossitis; stomatitis
Genetics Flash Facts
3611
iron; riboflavin; niacin; folate; B12
Genetics Flash Facts
3612
Q1807:how does niacin help tx type IIb
hyperlipoproteinemia
Genetics Flash Facts
3613
inhibits lipolysis in adipose-->less circulating free fatty acids
--> less fatty acids to liver --> less VLDL --> less LDL
Genetics Flash Facts
3614
Q1808:INH leads to deficiency in
Genetics Flash Facts
3615
B6 and B3
Genetics Flash Facts
3616
Q1809:folic acid is involved in synthesis of;
Genetics Flash Facts
3617
purines (A and G) and thymine
Genetics Flash Facts
3618
Q1810:where is B12 absorbed
Genetics Flash Facts
3619
distal ileum;Crohns and sprue can cause absorption problems
Genetics Flash Facts
3620
Q1811:what organs help absorb B12
Genetics Flash Facts
3621
salivary glands; stomach; pancreas; distal ileum
Genetics Flash Facts
3622
Q1812:antioxidant vitamins
Genetics Flash Facts
3623
C; E and A
Genetics Flash Facts
3624
Q1813:how does vit D work at the cell
Genetics Flash Facts
3625
interacts with target cell DNA to selectively stimulate or
repress gene stimulation
Genetics Flash Facts
3626
Q1814:first vit D hydroxylation
Genetics Flash Facts
3627
25; in liver
Genetics Flash Facts
3628
Q1815:second vit D hydroxylation
Genetics Flash Facts
3629
1; in kidney
Genetics Flash Facts
3630
Q1816:What drug block DNA Topoisomerase II? Prok?
Eukar?
Genetics Flash Facts
3631
Prok: nalidixic acid/quinolones;Eukaryotes: etoposide ;and
teniposide
Genetics Flash Facts
3632
Q1817:Which cells contain telomerase? What are they linked
with?
Genetics Flash Facts
3633
embryonic; germ cells; stem cells except somatic cells;-
cancer/malignant cells have a high level of telomerase;They are
linked with apoptosis
Genetics Flash Facts
3634
Q1818:What is another name for topoisomerase II in PROK?
Genetics Flash Facts
3635
DNA gyrase
Genetics Flash Facts
3636
Q1819:What nucleic acid has the most methyl groups?
Genetics Flash Facts
3637
Cytosine
Genetics Flash Facts
3638
Q1820:What happens when you take a methyl out of
Cytosine?
Genetics Flash Facts
3639
It becomes demethylated to Uracil
Genetics Flash Facts
3640
Q1821:During what cell cycle does DNA repair occur?
Genetics Flash Facts
3641
G1 Phase
Genetics Flash Facts
3642
Q1822:When does mismatch repair occur? (phase)
Genetics Flash Facts
3643
G2 phase
Genetics Flash Facts
3644
Q1823:What does p53 gene encode for?
Genetics Flash Facts
3645
Protein that prevents a cell w/ damaged DNA from entering
the S phase
Genetics Flash Facts
3646
Q1824:What disease is associated with p53 gene?
Genetics Flash Facts
3647
Li Fraumeni Syndrome and many solid tumors
Genetics Flash Facts
3648
Q1825:What is ATM gene?
Genetics Flash Facts
3649
ATM encodes for a kinase needed for p53 to work
Genetics Flash Facts
3650
Q1826:What is ATM gene associated with?
Genetics Flash Facts
3651
ataxia telangiectasia
Genetics Flash Facts
3652
Q1827:What is ataxia telangiectasia?
Genetics Flash Facts
3653
hypersensitivity to X-rays;predisposition to lymphomas
Genetics Flash Facts
3654
Q1828:What is BRCA1 associated with?
Genetics Flash Facts
3655
Breast; Prostate and Ovarian Cancer
Genetics Flash Facts
3656
Q1829:What is BRCA 2 associated with?
Genetics Flash Facts
3657
Breast cancer
Genetics Flash Facts
3658
Q1830:What are BRCA1 and 2 associated with?
Genetics Flash Facts
3659
required for p53 activity
Genetics Flash Facts
3660
Q1831:What happens when UV light damages DNA? What
disease is prone to this damage? Why?
Genetics Flash Facts
3661
it crease thyamine dimers;- patients with Xeroderma
Pigementosa;- they lack excision endonuclease
Genetics Flash Facts
3662
Q1832:What does Xeroderma Pig. consists of?
Genetics Flash Facts
3663
- Extreme UV sensitivity;- excessive freckling;- multiple skin
cancers;- corneal ulcerations
Genetics Flash Facts
3664
Q1833:What are two diseases that are associated with DNA
repair?
Genetics Flash Facts
3665
Xeroderma and Hereditary Nonpolyposis Colorectal Cancer
(HNCC)
Genetics Flash Facts
3666
Q1834:What drug inhibits DNA dependent RNA
polymerase?
Genetics Flash Facts
3667
Rifampin
Genetics Flash Facts
3668
Q1835:What drug binds to DNA preventing its transcription?
Genetics Flash Facts
3669
Actinomycin D
Genetics Flash Facts
3670
Q1836:What drug inhibits RNA polymerase II?
Genetics Flash Facts
3671
amanitin (from mushrooms)
Genetics Flash Facts
3672
Q1837:Which RNA do RNA Pol 1;2 and 3 code for?
Genetics Flash Facts
3673
1 2 and 3 rhyme with R M T;respectively;1 rRNA 2 mRNA
3 tRNA
Genetics Flash Facts
3674
Q1838:What is similar to sigma factor in Eukaryotes?
Genetics Flash Facts
3675
TFIID; transcription factors II;they bind before RNA Pol;
just like Sigma factors
Genetics Flash Facts
3676
Q1839:How does RNA pol know where to start?
Genetics Flash Facts
3677
- sigma factor needs to find promoter region;- two consensus
sequences are recognized as TATA BOX
Genetics Flash Facts
3678
Q1840:How long does sigma stay bound to DNA?
Genetics Flash Facts
3679
As soon as transcription begins; sigma is released
Genetics Flash Facts
3680
Q1841:How does mRNA know when to stop trasncription?
Genetics Flash Facts
3681
Rho-independent termination occurs when newly formed
RNA folds on itself to form GC-rich hairpin loop
Genetics Flash Facts
3682
Q1842:How does Rho-dependet termination work?
Genetics Flash Facts
3683
Rho displaces RNA pol from the 3' end of the RNA once it
has paused at the termination site
Genetics Flash Facts
3684
Q1843:What binds to Shine-Dalgarno sequence?
Genetics Flash Facts
3685
Ribosomes
Genetics Flash Facts
3686
Q1844:Where are Shine-Dalgarno sequences located?
Genetics Flash Facts
3687
5' end
Genetics Flash Facts
3688
Q1845:What is unique about prokaryotic transcription and
translation?
Genetics Flash Facts
3689
They can both start at the same time with the help of Shine-
Dalgarno sequences which allow ribosomes to hook on and
start the translation before transcription is done
Genetics Flash Facts
3690
Q1846:What is Shine-Dalgarno?
Genetics Flash Facts
3691
Shine-Dalgarno sequences lets prokaryotes shine! They can
do 2 things at the same time! Transcribe and TRANSLATE!
Genetics Flash Facts
3692
Q1847:What are the three STOP codons?
Genetics Flash Facts
3693
UAG;UAA;UGA;U Are Gone;U Are Away;U Go Away
Genetics Flash Facts
3694
Q1848:What is the poly-A tail added for?
Genetics Flash Facts
3695
1) protect from rapid degradation;2) transport to cytoplasm
Genetics Flash Facts
3696
Q1849:What is added at the 5' end of the transcribed mRNA?
Genetics Flash Facts
3697
It is actually hnRNA and a methylguanosine cap Me-Gppp is
added to the 5' end
Genetics Flash Facts
3698
Q1850:What is the function of the methyl guanosine cap?
Genetics Flash Facts
3699
It helps protect the mRNA chain from degradation
Genetics Flash Facts
3700
Q1851:Where is the poly A tail added?
Genetics Flash Facts
3701
3' end
Genetics Flash Facts
3702
Q1852:What can you say about the length of the poly A tail?
Genetics Flash Facts
3703
The longer the more stable the mRNA (hnRNA)
Genetics Flash Facts
3704
Q1853:What is another name for spliceosome?
Genetics Flash Facts
3705
snRNP; SNURP
Genetics Flash Facts
3706
Q1854:What is the function of spliceosomes?
Genetics Flash Facts
3707
They excise introns and leave only exons to be expressed
Genetics Flash Facts
3708
Q1855:What disease has a problem in spliceosomes/snRNP?
Genetics Flash Facts
3709
B-thatlassemia since mutations interfere with the splicing of
Beta-Globin mRNA
Genetics Flash Facts
3710
Q1856:How are the introns degraded?
Genetics Flash Facts
3711
They are degraded in a lariat structure and excised by
spliceosomes
Genetics Flash Facts
3712
Q1857:How can you calculate how many introns you have?
Genetics Flash Facts
3713
I=E-1;If you have 4 exons;Then you have I=4-1;I=3; 3 introns
Genetics Flash Facts
3714
Q1858:Where is the activated amino acid in a tRNA?
Genetics Flash Facts
3715
at the 3' end
Genetics Flash Facts
3716
Q1859:How does tRNA accomplish its lariat shape
(loop/cloverleaf)?
Genetics Flash Facts
3717
it has weird bases like;D;T;Pseudouridine
Genetics Flash Facts
3718
Q1860:Where is the anticodon found in the tRNA?
Genetics Flash Facts
3719
in the middle of the loop;center loop in between 5' and 3' ends
Genetics Flash Facts
3720
Q1861:How do you know a protein is marked for
destruction?
Genetics Flash Facts
3721
It has been ubiquiniated by ubiquitin;Usually because of
misfolding
Genetics Flash Facts
3722
Q1862:Who translates proteins for cytoplasm and
mitochondria?
Genetics Flash Facts
3723
free cytoplasmic ribosomes
Genetics Flash Facts
3724
Q1863:Who transtalates proteins for secreted proteins;
membrane proteins; and lysosomas enzymes?
Genetics Flash Facts
3725
Rough E.R.
Genetics Flash Facts
3726
Q1864:How can you make a protein to be delivered to the
R.E.R.?
Genetics Flash Facts
3727
N-terminal hydrophobic signal sequence has to be added to be
secreted or placed in the membranes
Genetics Flash Facts
3728
Q1865:How do you direct a prtoein to go inside a lysosome?
Genetics Flash Facts
3729
It is phosphorylated with a mannose residue in the R.E.R;-
usually this protein is an enzyme to be delivered to the
lysosome
Genetics Flash Facts
3730
Q1866:What happens to misfolded proteins?
Genetics Flash Facts
3731
They are mark with ubiquitin to be destroyed by
proteosomes;you will be liquidated!!!;Ubiquinated!!!!
Genetics Flash Facts
3732
Q1867:What are proteosomes?
Genetics Flash Facts
3733
They are large cytoplasmic complexes that digest damaged
proteins
Genetics Flash Facts
3734
Q1868:What enzyme is deficient in Fabry's Dz?
Genetics Flash Facts
3735
alpha-galactosidase A
Genetics Flash Facts
3736
Q1869:What enzyme is deficient in Krabbe's Dz?
Genetics Flash Facts
3737
BB for beta-galactosidase
Genetics Flash Facts
3738
Q1870:What enzyme is deficient in Gaucher's Dz?
Genetics Flash Facts
3739
beta-glucocerebrosidase;(It is in the center of the reactions)
Genetics Flash Facts
3740
Q1871:What enzyme is deficient in Niemann-Pick's Dz?
Genetics Flash Facts
3741
Sphingomyelinase
Genetics Flash Facts
3742
Q1872:What enzyme is deficient in Metachromic
Leukodystrophy?
Genetics Flash Facts
3743
Arylsulfatase A
Genetics Flash Facts
3744
Q1873:What enzyme is deficient in Tay Sachs Dz?
Genetics Flash Facts
3745
Hexosaminidase A
Genetics Flash Facts
3746
Q1874:What accumulates from Fabry's Dz?
Genetics Flash Facts
3747
ceramide trihexoside
Genetics Flash Facts
3748
Q1875:What is the finding in Fabry's Dz?
Genetics Flash Facts
3749
renal failure
Genetics Flash Facts
3750
Q1876:What accumlulates in Krabbe's Dz?
Genetics Flash Facts
3751
galactocerebroside in the brain
Genetics Flash Facts
3752
Q1877:What is the finding in Krabbe's Dz?
Genetics Flash Facts
3753
Optic atrophy;spasticity;early death;The krabbe got your
eyes!
Genetics Flash Facts
3754
Q1878:What accumlulates in Gaucher's Dz?
Genetics Flash Facts
3755
glucocerebroside;- brain;- liver;- spleen;- bone marrow;G is for
Glucocerebrosidase
Genetics Flash Facts
3756
Q1879:What accumlulates in Neimann Pick's Dz?
Genetics Flash Facts
3757
sphingomyelin and cholesterol;No man Picks his nose with
hiSPHINGER
Genetics Flash Facts
3758
Q1880:Wnat are the findings in Neimann Pick Dz?
Genetics Flash Facts
3759
increase cholesterol and sphyhingomyelin in
reticuloendothelial and parenchymal cells;- Patients die by age
3
Genetics Flash Facts
3760
Q1881:What accumlulates in Tay Sachs Dz?
Genetics Flash Facts
3761
GM2 ganglioside 2
Genetics Flash Facts
3762
Q1882:What are the findings in Tay Sachs Dz?
Genetics Flash Facts
3763
Cherry-red spot on macula;1:30 carrier in European
Jews;Death by age 3;Got a Sach of Cherries in your Macula
Genetics Flash Facts
3764
Q1883:What accumlulates in Metachromatic
Leukodystrophy?
Genetics Flash Facts
3765
sulfatide in;- brain;- kidney;- liver;- peripheral nerves
Genetics Flash Facts
3766
Q1884:Which lysosomal storage diseases (of the
sphingolipidoses) are autonomal recessive?
Genetics Flash Facts
3767
All except Fabry's!!!
Genetics Flash Facts
3768
Q1885:What lysosomal storage disease are x-linked?
Genetics Flash Facts
3769
sphingolipidosis: Fabry's;mucopolysaccharidoses:
Hunter's;Hunter's hit the X
Genetics Flash Facts
3770
Q1886:What mucopolysacharidose Dz has no corneal
clouding?
Genetics Flash Facts
3771
Hunter's;They need to see what they hunt!
Genetics Flash Facts
3772
Q1887:What enzyme is deficient in Hurler's Dz?
Genetics Flash Facts
3773
alpha-L-iDURONidase
Genetics Flash Facts
3774
Q1888:What enzyme is deficient in Hunter's Dz?
Genetics Flash Facts
3775
iDURONate sulfatase
Genetics Flash Facts
3776
Q1889:What increases in Hurler's Sx?
Genetics Flash Facts
3777
heparan and dermatan sulphate;mucopolysaccharides
Genetics Flash Facts
3778
Q1890:What are the signs of Hurler's Sx?
Genetics Flash Facts
3779
Halted growth ;Progressive mental retardation ;Thick; coarse
facial features with low nasal bridge ;Cloudy corneas
;Deafness ;Joint disease; including stiffness ;Heart value
problems ;Abnormal bones of spine and claw hand
Genetics Flash Facts
3780
Q1891:How do we screen for Hurler's Sx?
Genetics Flash Facts
3781
Urine Heparan and Dermatan sulfate
Genetics Flash Facts
3782
Q1892:What is a term associated with Hurler's Sx?
Genetics Flash Facts
3783
Gargoylism since there are facial deformities
Genetics Flash Facts
3784
Q1893:What signs and symtoms are associated with Hunter's
Sx?
Genetics Flash Facts
3785
protuberant abdomen; claw hands; excessive hair growth;
coarsening of the face with grotesque facial features; retarded
growth; and behaviour problems.
Genetics Flash Facts
3786
Q1894:Which syndrom is severe? Hurler or Hunter?
Genetics Flash Facts
3787
Hurler's Syndrome ;It is termed MPS I;Hunter is MPS II
Genetics Flash Facts
3788
Q1895:What amino acid is unique to collagen?
Genetics Flash Facts
3789
Hydroxyproline
Genetics Flash Facts
3790
Q1896:Where does glycosylation occur?
Genetics Flash Facts
3791
E.R. and Golgi apparatus
Genetics Flash Facts
3792
Q1897:Which enzymes are requiered to make collagen?
Genetics Flash Facts
3793
proline and lysine hydroxylases
Genetics Flash Facts
3794
Q1898:What vitamin is needed to make collagen?
Genetics Flash Facts
3795
Vitamin C;- Hydroxylates Proline and Lysine in the RER
Genetics Flash Facts
3796
Q1899:What are some co-factors of lysyl oxidase?
Genetics Flash Facts
3797
O2 and Copper (Cu)
Genetics Flash Facts
3798
Q1900:What Dz results from deficiency of Lysyl Oxidase and
why?
Genetics Flash Facts
3799
Deficient Copper (Cu2+);Menke's Dz is a genetic deffect that
decrease collagen synthesis
Genetics Flash Facts
3800
Q1901:What enzyme is deficient in Ehler's Danlos?
Genetics Flash Facts
3801
Lysine Hydroxylase
Genetics Flash Facts
3802
Q1902:What are the signs and symptoms of Menke's Dz?
Genetics Flash Facts
3803
Depigmented (steely) hair;Arterial tortuosity;
rupture;Cerebral degeneration;Osteoporosis
Genetics Flash Facts
3804
Q1903:What collagen is affected in Osteogenesis Imperfect?
Genetics Flash Facts
3805
Type I for bONE
Genetics Flash Facts
3806
Q1904:What do you see in patients with Osteogenesis
Imperfecta?
Genetics Flash Facts
3807
skeletal deformities;fractures;blue sclera
Genetics Flash Facts
3808
Q1905:What other disease is involved in Copper usage?
Genetics Flash Facts
3809
Wilson's Dz but it is a Copper (Cu2+) toxicity
Genetics Flash Facts
3810
Q1906:What are some symptoms of Wilson's Dz?
Genetics Flash Facts
3811
Liver Cirrhosis;Cu damages nerves and causes Brown Kaisser-
Fleischner Rings
Genetics Flash Facts
3812
Q1907:What inhibits eEF-2? Elongation factor 2 in
Eurkaryotes
Genetics Flash Facts
3813
Diphtheria and Pseudomonas Toxins
Genetics Flash Facts
3814
Q1908:What inhibits protein translation in Eukaryotes?
Genetics Flash Facts
3815
Diphteria and Pseudomonas
Genetics Flash Facts
3816
Q1909:Where do Diphtheria and Pseudomonas act?
Genetics Flash Facts
3817
eEF-2 is inhibited
Genetics Flash Facts
3818
Q1910:How many ATPs high energy bonds are needed to
translate an amino acid?
Genetics Flash Facts
3819
4 Total for each amino acid;breakdown;2 ATP for charging;1
GTP for initiation;1 GTP for Elongation
Genetics Flash Facts
3820
Q1911:What is the antibiotic of choice for pertussis?
Genetics Flash Facts
3821
Erythromycin; blocks transLOcation;macrOLide
Genetics Flash Facts
3822
Q1912:What results in Menkes Dz?
Genetics Flash Facts
3823
- Fragile bones;- Fragile blood vessels;from poorly crosslinked
connective tissue
Genetics Flash Facts
3824
Q1913:What blocks ADP ribosylation of EF-2?
Genetics Flash Facts
3825
Diphtheria and Pseudomonas
Genetics Flash Facts
3826
Q1914:What is an operon?
Genetics Flash Facts
3827
group of proteins required for a particular metabolic function
Genetics Flash Facts
3828
Q1915:Where is the regulatory region in Prokaryotes?
Genetics Flash Facts
3829
Upstream on the 5' end
Genetics Flash Facts
3830
Q1916:What kind of mRNA does the operon produce?
Genetics Flash Facts
3831
Polycistronic mRNA
Genetics Flash Facts
3832
Q1917:What two ways of transcriptional control exist in
prokaryotes?
Genetics Flash Facts
3833
regulation of activator and repressor proteins;Attenuation
Genetics Flash Facts
3834
Q1918:Where do we find Attenuation?
Genetics Flash Facts
3835
Histidine Operon
Genetics Flash Facts
3836
Q1919:What model do we use for activator and repressor
proteins?
Genetics Flash Facts
3837
Lac Operon
Genetics Flash Facts
3838
Q1920:What two regulatory proteins exist in the Lac Operon
Control?
Genetics Flash Facts
3839
lac repressor protein;c-AMP-dependent activator protien
(CAP)
Genetics Flash Facts
3840
Q1921:What does the lac operon sense?
Genetics Flash Facts
3841
glucose is preferred but in the absence lactose is taken as
energy
Genetics Flash Facts
3842
Q1922:What regulates the CAP?
Genetics Flash Facts
3843
cAMP levels;if glucose is low; cAMP increases and activates
it
Genetics Flash Facts
3844
Q1923:What happens to the lactose operon if glucose is
present?
Genetics Flash Facts
3845
it is shutdown;glucose decreases cAMP;so CAP doesn't bind
to CAP site
Genetics Flash Facts
3846
Q1924:When does CAP bind to CAP site?
Genetics Flash Facts
3847
when glucose is low since cAMP is high
Genetics Flash Facts
3848
Q1925:When is the repressor protein made?
Genetics Flash Facts
3849
Always since it is embedded in the mRNA sequence
Genetics Flash Facts
3850
Q1926:What does lactose do to the lac operon?
Genetics Flash Facts
3851
lactose induces gene expression since it prevents the repressor
protein from binding to the operator sequence
Genetics Flash Facts
3852
Q1927:If lactose is high and glucose is low what happens?
Genetics Flash Facts
3853
1) lactose binds to repressor and stimulates gene
expresssion;2) cAMP is high so it binds to CAP protein and
Genetics Flash Facts
3854
Q1928:When does the lactose operon stop sequence?
Genetics Flash Facts
3855
when the repressor protein is bound to the operator
Genetics Flash Facts
3856
Q1929:When is high expression of the lac operon found?
Genetics Flash Facts
3857
High lactose and no glucose
Genetics Flash Facts
3858
Q1930:When glucose is present does cAMP go up or down?
Genetics Flash Facts
3859
they are inversely proportional;Glucose high cAMP
low;glucose low cAMP high
Genetics Flash Facts
3860
Q1931:When glucose is high; what happens to the repressor?
Genetics Flash Facts
3861
it remains active since CAP can't block it (cAMP is low)
Genetics Flash Facts
3862
Q1932:What compounds are formed when lactose is broken
down?
Genetics Flash Facts
3863
galactose and glucose
Genetics Flash Facts
3864
Q1933:What enzyme degrades lactose?
Genetics Flash Facts
3865
Beta-Galactosidase
Genetics Flash Facts
3866
Q1934:Where does RNA polymerase work on?
Genetics Flash Facts
3867
Promoter
Genetics Flash Facts
3868
Q1935:Lactose goes with
Genetics Flash Facts
3869
Repressor
Genetics Flash Facts
3870
Q1936:Repressor attaches to?
Genetics Flash Facts
3871
Operator
Genetics Flash Facts
3872
Q1937:Attenuation??? Which operon?
Genetics Flash Facts
3873
Histidine Operon
Genetics Flash Facts
3874
Q1938:What happens when histidine is absent?
Genetics Flash Facts
3875
enzymes are produced
Genetics Flash Facts
3876
Q1939:What other a.a. work similar to the Histidine Operon?
Genetics Flash Facts
3877
Tryptophan;Leucine;Phenylalanine
Genetics Flash Facts
3878
Q1940:What is attenuation?
Genetics Flash Facts
3879
premature termination of transcription
Genetics Flash Facts
3880
Q1941:What does attenuation in prokaryotes depdend on?
Genetics Flash Facts
3881
The fact that transcription and translation occur
simultaneously in prokaryotes
Genetics Flash Facts
3882
Q1942:What happens if histidine is present?
Genetics Flash Facts
3883
Transcription is terminated before RNA pol reaches operon
Genetics Flash Facts
3884
Q1943:Can attenuation occur in Eukaryotes?
Genetics Flash Facts
3885
No! Transcription and translation are two separate;
independent events
Genetics Flash Facts
3886
Q1944:What starts translation after leader peptide is made?
Genetics Flash Facts
3887
Shine-Dalgarno sequence
Genetics Flash Facts
3888
Q1945:What happens when histidine is low?
Genetics Flash Facts
3889
the ribosomes will stall and not form the stem and loop +
poly U that stops the ribosomes and they will continue to
transcribe the genes of the operon
Genetics Flash Facts
3890
Q1946:What are activator proteins called in Eukaryotes?
Genetics Flash Facts
3891
Response Elements
Genetics Flash Facts
3892
Q1947:Where are response elements located?
Genetics Flash Facts
3893
Some upstream in promoter region;Most in an enhancer region
outside of promoter even more upstream
Genetics Flash Facts
3894
Q1948:Where are upstream promoter elements located?
Genetics Flash Facts
3895
Just upstream of -25 sequence TATA Box
Genetics Flash Facts
3896
Q1949:What does the upstream promoter elements include?
Genetics Flash Facts
3897
CCAAT Box (-75) NF-1;GC-rich SP-1 (in between -25 and -
75)
Genetics Flash Facts
3898
Q1950:What are the characteristics of enhancers?
Genetics Flash Facts
3899
Contain activator proteins;- may be 1000 bp away from
gene;- upstream; downstream; within an intron;-they are
tissue specific
Genetics Flash Facts
3900
Q1951:What are repressor proteins in Eukaryotes called?
Genetics Flash Facts
3901
Silencers
Genetics Flash Facts
3902
Q1952:What are cis regulators?
Genetics Flash Facts
3903
DNA regulatory base sequences/binding sites for proteins
Genetics Flash Facts
3904
Q1953:What are trans regulators?
Genetics Flash Facts
3905
transcription factors
Genetics Flash Facts
3906
Q1954:What are the properties of a trans regulatory
property?
Genetics Flash Facts
3907
they can diffuse through the cell to their point of action.
Genetics Flash Facts
3908
Q1955:What protein class are steroid receptors?
Genetics Flash Facts
3909
Zinc Finger
Genetics Flash Facts
3910
Q1956:What protein class are cAMP response element
binding prtoeins? (CREBs)
Genetics Flash Facts
3911
Leucine Zipper
Genetics Flash Facts
3912
Q1957:Homeodomain proteins are what protein class and
what are they involved in?
Genetics Flash Facts
3913
Helix-turn-helix;Regulate gene expression during
development;- embryonal development
Genetics Flash Facts
3914
Q1958:What protein class are peroxisome proliferator-
activated receptors? (PPARs)
Genetics Flash Facts
3915
Zinc finger proteins
Genetics Flash Facts
3916
Q1959:What is the response element for 1) steroid
receptors?;for 2) cAMP?;for 3) peroxisome (PPARs)
Genetics Flash Facts
3917
1) HRE;2) CRE;3) PPREs
Genetics Flash Facts
3918
Q1960:Which response element is induced with the new tx for
insulin resistance?
Genetics Flash Facts
3919
PPARs;- thiazolidinediones
Genetics Flash Facts
3920
Q1961:What is a new drug that targets Peroxisime
proliferator-activated receptors? (PPARs)
Genetics Flash Facts
3921
Clofibrate;-affects lipid metabolism
Genetics Flash Facts
3922
Q1962:What happens when glucose is low?
Genetics Flash Facts
3923
Glucagon released
Genetics Flash Facts
3924
Q1963:What is the effect of glucagon on gene regulation?
Genetics Flash Facts
3925
increases cAMP
Genetics Flash Facts
3926
Q1964:What happens in time of stress?
Genetics Flash Facts
3927
Cortisol secreted
Genetics Flash Facts
3928
Q1965:What does cAMP do?
Genetics Flash Facts
3929
- activates Protein Kinase A;- CREB is activated via
phosphorylation
Genetics Flash Facts
3930
Q1966:CREB binds to what in the nucleus?
Genetics Flash Facts
3931
CREB enters the nucleus and binds CRE region in the
enhancer region
Genetics Flash Facts
3932
Q1967:What does the GRE and CRE region do?
Genetics Flash Facts
3933
They enhance or activate PEPCK gene
Genetics Flash Facts
3934
Q1968:Who activates GRE enhancer region?
Genetics Flash Facts
3935
cortisol (glucocorticoid response element)
Genetics Flash Facts
3936
Q1969:Who activates CRE enhancer region?
Genetics Flash Facts
3937
Active CREB (cAMP response element) which is activated
by cAMP
Genetics Flash Facts
3938
Q1970:What are two homeodomain protein regulator genes?
Genetics Flash Facts
3939
HOX and PAX genes;Homeobox and Paired-Box genes
Genetics Flash Facts
3940
Q1971:What disease is associated with PAX (paired-box)
genes?
Genetics Flash Facts
3941
Klein Waardenburg syndrome (WS-III);dystopia canthorum;
pigment abnormalities;congenital deafness;limb abnormalities
Genetics Flash Facts
3942
Q1972:What are some exceptions to codominat expression?
Genetics Flash Facts
3943
- Barr Body (inactive X chromosome) in women;- Ig heavy
and light chain loci;- T-cell receptor loci
Genetics Flash Facts
3944
Q1973:What happens when genes become acetylated?
Genetics Flash Facts
3945
The histones are acetylated and it increases gene expression
Genetics Flash Facts
3946
Q1974:How do genes become silenced? Give two diseases
that follows this;
Genetics Flash Facts
3947
Methylation of DNA silences genes;Prader-Willi and
Angelman Sx
Genetics Flash Facts
3948
Q1975:What chromosome is involved in defect of imprinting?
Genetics Flash Facts
3949
Chromosome 15
Genetics Flash Facts
3950
Q1976:What is the problem in Prader-Willi Sx?
Genetics Flash Facts
3951
Prader-Willi region is inherited from Paternal Origin (P for
P);so; if father has defective chromosome 15 then symptoms
will occur
Genetics Flash Facts
3952
Q1977:What are the symptoms of Prader-Willi Sx?
Genetics Flash Facts
3953
- Childhood obesity + hyperphagia;- Hypogonadotrophic
hypogonadism;- Mental Retardation;- Hypotonia
Genetics Flash Facts
3954
Q1978:How else can you get Prader-Willi Sx?
Genetics Flash Facts
3955
uniparental (maternal) disomy of chromosome 15
Genetics Flash Facts
3956
Q1979:When does upstream termination occur?
Genetics Flash Facts
3957
When histidine is present
Genetics Flash Facts
3958
Q1980:When does downstream termination occur?
Genetics Flash Facts
3959
when histidine is absent;* this is a normal termination
Genetics Flash Facts
3960
Q1981:What kindo of domain do HOX and PAX have?
Genetics Flash Facts
3961
helix-turn-helix domain
Genetics Flash Facts
3962
Q1982:What is the first step in increase activity of beta-
galactosidase activity?
Genetics Flash Facts
3963
increase in cAMP due to glucose depletion
Genetics Flash Facts
3964
Q1983:Why does beta-galactosidase activity decrease?
Genetics Flash Facts
3965
depletion of lactose;- dissociation of repressor protein;-
binding of repressor to operator control region
Genetics Flash Facts
3966
Q1984:Chp. 6
Genetics Flash Facts
3967
Recombinant DNA
Genetics Flash Facts
3968
Q1985:WHat does restriction sites provide?
Genetics Flash Facts
3969
Usually defense against DNA viruses
Genetics Flash Facts
3970
Q1986:How do palindromes get protected in bacterial DNA?
Genetics Flash Facts
3971
methylase enzyme modification
Genetics Flash Facts
3972
Q1987:How is infecting viral DNA recognized?
Genetics Flash Facts
3973
unmethylated palindromes are recognized by restriction
endonuclease
Genetics Flash Facts
3974
Q1988:What is a vector?
Genetics Flash Facts
3975
piece of DNA that is capable of autonomous replication in a
host cell
Genetics Flash Facts
3976
Q1989:What is recombinant DNA?
Genetics Flash Facts
3977
when a fragment is placed inside a vector
Genetics Flash Facts
3978
Q1990:What is a genomic DNA library?
Genetics Flash Facts
3979
colonies produced by plating the recombinant DNA with
antibiotic resistance and sensitivity
Genetics Flash Facts
3980
Q1991:What can restriction site polymorphisms be used for?
Genetics Flash Facts
3981
These enzymes cut DNA sequences and detect defects in
longer sequences or shorter sequences;Example: Sickle Cell
Mutation which results in ONE long 1.35 kb fragment instead
of a 1.15kb and a 0.2kb fragment (2 fragments is normal)
Genetics Flash Facts
3982
Q1992:What do cDNA lack?
Genetics Flash Facts
3983
introns
Genetics Flash Facts
3984
Q1993:What must cDNA contain?
Genetics Flash Facts
3985
complete coding sequence of a gene
Genetics Flash Facts
3986
Q1994:What is produced at the end of a cloning procedure?
Genetics Flash Facts
3987
An expression library
Genetics Flash Facts
3988
Q1995:What do you do after reverse transcriptase has created
the first strand of cDNA?
Genetics Flash Facts
3989
Treat DNA with NaOH to remove mRNA template
Genetics Flash Facts
3990
Q1996:What enzyme do you use to create cDNA?
Genetics Flash Facts
3991
reverse transcriptase
Genetics Flash Facts
3992
Q1997:How do you remove mRNA template strand in
making cDNA?
Genetics Flash Facts
3993
NaOH (sodium hydroxide)
Genetics Flash Facts
3994
Q1998:What must be inserted in order to produce proteins as
the end product of cloning?
Genetics Flash Facts
3995
- Bacterial Promoter;- Shine-Dalgarno Sequence
Genetics Flash Facts
3996
Q1999:What are 3 examples in which cDNA expression
libraries are being used?
Genetics Flash Facts
3997
1) Recombinant Human Insulin;2) Recombinant Factor VIII
(treating Hemophilia A);3) Recombinant HBsAg
(antigen(protein) is made and given to patients to immunize
them against hepatitis B without introducing the live virus)
Genetics Flash Facts
3998
Q2000:Does the gene therapy cure the patient and subsequent
generations?
Genetics Flash Facts
3999
NO! it cures only the patient since it is only introduced into
the affected organ and not into the reproductive tissues of the
afected individual
Genetics Flash Facts
4000
Q2001:What is a transgenic animal?
Genetics Flash Facts
4001
animal in which a new gene has been introduced into its
germline
Genetics Flash Facts
4002
Q2002:How is gene therapy different from Transgenic
Animals?
Genetics Flash Facts
4003
transgenic animals have virtually new gene in every cell;
including the gametophytes so that they get passed on to their
offspring and these are no longer affected by the defect
Genetics Flash Facts
4004
Q2003:What are genomic libraries used for?
Genetics Flash Facts
4005
studying DNA sequences that are not expressed;- response
elements;- introns;- promoters;Constucting restriction maps
of DNA (sickle cell);Id genetic markers (microsatellites)
Genetics Flash Facts
4006
Q2004:Chp. 7
Genetics Flash Facts
4007
Genetic Testing
Genetics Flash Facts
4008
Q2005:What are the Autosomal Dominant Dz characteristics?
Genetics Flash Facts
4009
- Only one mutant allele needed;- both sexes affected;- male to
male transmission
Genetics Flash Facts
4010
Q2006:What are the Autosomal Dominant Dz?
Genetics Flash Facts
4011
1) Familian Hypercholesterolemia (LDL receptor def.);2)
Huntington Dz;3) Neurofibromatosis I;4) Marfan Sx;5) Acute
Intermitent Porphyria
Genetics Flash Facts
4012
Q2007:What are the characteristics of autonsomal recessive?
Genetics Flash Facts
4013
- two mutant alleles are requiered;- born to unaffected
parents;- either sex;- male to male transmission
Genetics Flash Facts
4014
Q2008:What are some of the autosomal recessive dz?
Genetics Flash Facts
4015
* Sickle Cell Anemia;* Cystic Fibrosis;* Phenylketonuria;*
Tay-Sachs Dz (Hexosaminidase A def.)
Genetics Flash Facts
4016
Q2009:What are the traits of X-linked dominant?
Genetics Flash Facts
4017
- One mutant allele ;- either sex;- affected male passes on to all
daughters;- affected female passes trait to both fem and males
Genetics Flash Facts
4018
Q2010:What are 2 X-linked Dominant Dz?
Genetics Flash Facts
4019
- Hypophosphatemic Rickets;- Fragile X syndrome
Genetics Flash Facts
4020
Q2011:What are the traits of X-linked recessive dz?
Genetics Flash Facts
4021
- usually males are affected;- no male to male transmission
Genetics Flash Facts
4022
Q2012:What are some of the X-linked recessive dz?
Genetics Flash Facts
4023
1) Duchene Muscular Dystrophy;2) Lesch Nyhan Sx
(Hypoxanthine-guanine phosphoribosyltransferase
HGPRT)self mutilation;3) Glucose-6-Phosphate
Dehydrogenase def;4) Hemophilia A and B
Genetics Flash Facts
4024
Q2013:What is the trait of Mitochrondrial Inheritance?
Genetics Flash Facts
4025
- inherited maternally;- ALL offspring of affected female are
affected!
Genetics Flash Facts
4026
Q2014:What are the 3 diseases that arise from Mitochrondrial
Inheritance?
Genetics Flash Facts
4027
LHON; MELAS and MERRF;1) Leber Hereditary Optic
Neurophathy;2) Mitochondrial Encephalomyopathy; lactic
acidosis; stroke-like episodes;3) Myoclonic epilepsy with
ragged red muscle fibers
Genetics Flash Facts
4028
Q2015:What form of inheritance is Cystif Fibrosis?
Genetics Flash Facts
4029
autosomal recessive
Genetics Flash Facts
4030
Q2016:How do you inherit Hungtington Dz?
Genetics Flash Facts
4031
Autosomal Dominat
Genetics Flash Facts
4032
Q2017:What form of inheritance is sickle cell disease?
Genetics Flash Facts
4033
autosomal recessive
Genetics Flash Facts
4034
Q2018:What form of inheritance is Fragile X Sx?
Genetics Flash Facts
4035
X-linked Dominant
Genetics Flash Facts
4036
Q2019:How is Phenylketonuria inherited?
Genetics Flash Facts
4037
autosomal recessive
Genetics Flash Facts
4038
Q2020:How is Lesch-Nyhan Sx inherited?
Genetics Flash Facts
4039
X-linked recessive
Genetics Flash Facts
4040
Q2021:How is Neurofibromatosis I inherited?
Genetics Flash Facts
4041
Autosomal Dominant
Genetics Flash Facts
4042
Q2022:What is the mode of inheritance of Marfan Sx?
Genetics Flash Facts
4043
Autosomal Dominant
Genetics Flash Facts
4044
Q2023:How is Leber Hereditary Optic Neuropathy inherited?
Genetics Flash Facts
4045
Mitochrondrial Inheritance
Genetics Flash Facts
4046
Q2024:How is Duchenne Muscular Dystrophy inherited?
Genetics Flash Facts
4047
x-linked recessive
Genetics Flash Facts
4048
Q2025:How is myoclonic epilepsy inherited?
Genetics Flash Facts
4049
mitochrondrial inheritance
Genetics Flash Facts
4050
Q2026:How is Acute intermittent porphyria inherited?
Genetics Flash Facts
4051
Autosomal DOMINANT
Genetics Flash Facts
4052
Q2027:How is Rickets inherited?
Genetics Flash Facts
4053
X-linked Autosomal Dominant
Genetics Flash Facts
4054
Q2028:How is Cystic Fibrosis inherited?
Genetics Flash Facts
4055
autosomal recessive
Genetics Flash Facts
4056
Q2029:How is Phenylketonuria inherited?
Genetics Flash Facts
4057
autosomal recessive
Genetics Flash Facts
4058
Q2030:How is Familia Hypercholesterolemia inherited?
Genetics Flash Facts
4059
Autosomal Dominant;LDL receptor deficiency
Genetics Flash Facts
4060
Q2031:How is Tay-Sachs Disease inhertied?
Genetics Flash Facts
4061
autosomal recessive
Genetics Flash Facts
4062
Q2032:How is Lesch-Nyhan Sx inherited?
Genetics Flash Facts
4063
HGPRT def;X-linked recessive
Genetics Flash Facts
4064
Q2033:How is Hemophilia A and B inherited?
Genetics Flash Facts
4065
X-linked recessive
Genetics Flash Facts
4066
Q2034:How is Glucose-6-phosphatase inherited?
Genetics Flash Facts
4067
X-linked recessive
Genetics Flash Facts
4068
Q2035:How is cystic fibrosis inherited?
Genetics Flash Facts
4069
CFTR autosomal recessive
Genetics Flash Facts
4070
Q2036:Which RNA is identical to the coding strand?
Genetics Flash Facts
4071
the mRNA
Genetics Flash Facts
4072
Q2037:What is the template strand?
Genetics Flash Facts
4073
The strand that is compelementary and antiparallel to the
mRNA
Genetics Flash Facts
4074
Q2038:What amino acids (a.a.) are precursors of
catecholamines?
Genetics Flash Facts
4075
Phenylalanine and Tyrosine
Genetics Flash Facts
4076
Q2039:What does tryptophan form?
Genetics Flash Facts
4077
Serotonin and Niacin
Genetics Flash Facts
4078
Q2040:What a.a. is involved in depression?
Genetics Flash Facts
4079
Tryptophan--> makes Serotonin
Genetics Flash Facts
4080
Q2041:What a.a. are involved in maple syrup disease?
Genetics Flash Facts
4081
Isoleucine; Leucine and Valine;I Love Vermont maple syrup!!!
Genetics Flash Facts
4082
Q2042:What a.a. is a secondary amine?
Genetics Flash Facts
4083
Proline
Genetics Flash Facts
4084
Q2043:What does Proline do to the protein structure?
Genetics Flash Facts
4085
disrupts secondary structure
Genetics Flash Facts
4086
Q2044:What are the acidic a.a.?
Genetics Flash Facts
4087
aspartic acid and glutamic acid ;negatively charged coo-
Genetics Flash Facts
4088
Q2045:What a.a. are basic? 3
Genetics Flash Facts
4089
Histidine; Arginine; Lysine;BASE HAL;They are positively
charged NH+
Genetics Flash Facts
4090
Q2046:What a.a. is associated with the Golgi apparatus? 2
Genetics Flash Facts
4091
serine and threonine;O-linked glycosylation;Mannose-6-
phosphate;lysosomes
Genetics Flash Facts
4092
Q2047:What a.a. is associated w/ endoplasmic reticulum and
export of proteins?
Genetics Flash Facts
4093
Asparagine;N-linked glycosylation
Genetics Flash Facts
4094
Q2048:What are two a.a. that conatin sulfure?
Genetics Flash Facts
4095
Cysteine and Methionine
Genetics Flash Facts
4096
Q2049:What does cysteine do to the protein structure?
Genetics Flash Facts
4097
stabilize the shape of proteins (3ry structure)
Genetics Flash Facts
4098
Q2050:What two a.a. are linked with post-translational
modificacion?
Genetics Flash Facts
4099
serine; threonine and asparagine
Genetics Flash Facts
4100
Q2051:What a.a. is a methyl donor?
Genetics Flash Facts
4101
methionine ;S-adenosaylmethionine (SAM)
Genetics Flash Facts
4102
Q2052:What does tyrosine make?
Genetics Flash Facts
4103
Catecolamines;Thyroid T3/T4;Melanin
Genetics Flash Facts
4104
Q2053:What is the smallest a.a.?
Genetics Flash Facts
4105
glycine
Genetics Flash Facts
4106
Q2054:What a.a. makes tyrosine?
Genetics Flash Facts
4107
Phenylalanine
Genetics Flash Facts
4108
Q2055:What is made with tyrosine?
Genetics Flash Facts
4109
cathecholamiens;thyroid T3T4;melanin
Genetics Flash Facts
4110
Q2056:What a.a. is associated with Vitamin B3?
Genetics Flash Facts
4111
tryptophan is asociated with B3 (niacin) ;NAD
Genetics Flash Facts
4112
Q2057:What disease is also related to tryptophan deficiency
and pellagra?
Genetics Flash Facts
4113
Hartnup Dz;since decreases Niacin B3 and causes Pellagra
(dermatitis; diarrhea; demetnia)
Genetics Flash Facts
4114
Q2058:What a.a. contributes to the negative charge of
proteins?
Genetics Flash Facts
4115
aspartic acid coo-;glutamic acid
Genetics Flash Facts
4116
Q2059:What a.a. contributes to the positive charge of
proteins?
Genetics Flash Facts
4117
lysine and arginine
Genetics Flash Facts
4118
Q2060:What a.a. is abundant in RBC?
Genetics Flash Facts
4119
histidine since it brings the pH to 7.0
Genetics Flash Facts
4120
Q2061:What is the only a.a. that is useful in maintaining the
physiologic pH (7.2-7.4)?
Genetics Flash Facts
4121
Histidine pK at 7.0
Genetics Flash Facts
4122
Q2062:What are the essential amino acids?
Genetics Flash Facts
4123
PVT TIM HALL;Private tim hall
Genetics Flash Facts
4124
Q2063:What does PVT TIM HALL stand for?
Genetics Flash Facts
4125
Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi
onine;Histidine;Arginine;Leucine;Lysine
Genetics Flash Facts
4126
Q2064:What charge is the protein if the pH is lower than the
pI?
Genetics Flash Facts
4127
positive ;- it is trying to compensate and neutralize it
(buffering it)
Genetics Flash Facts
4128
Q2065:What charge is the protein if the pH is higher than the
pI?
Genetics Flash Facts
4129
negative
Genetics Flash Facts
4130
Q2066:What are Cooperative Enzymes called?
Genetics Flash Facts
4131
Allosteric Enzymes
Genetics Flash Facts
4132
Q2067:WHat happens when Km increases?
Genetics Flash Facts
4133
the affinity is low
Genetics Flash Facts
4134
Q2068:What do enzymes do with chemical Rx?
Genetics Flash Facts
4135
decrease energy of activation
Genetics Flash Facts
4136
Q2069:What happens when there is a competitive inhibitor?
Genetics Flash Facts
4137
Km increases; Vmax stays the same;Thin Kompetitive
Increases
Genetics Flash Facts
4138
Q2070:What happens when noncompetitive inhibitor binds?
Genetics Flash Facts
4139
Km no effect; Vmax decreases
Genetics Flash Facts
4140
Q2071:What happens when an irreversible inhibitor binds?
Genetics Flash Facts
4141
Km no effect; Vmax decreases
Genetics Flash Facts
4142
Q2072:What are two examples of competitive inhibitors?
Genetics Flash Facts
4143
HMG-coA reductase;Methotrexate (inhibits folic acid
dihidrofolate reductase)
Genetics Flash Facts
4144
Q2073:What hormones affecte near-by organs?
Genetics Flash Facts
4145
paracrine
Genetics Flash Facts
4146
Q2074:What hormones go around the body through long
distances?
Genetics Flash Facts
4147
telecrine
Genetics Flash Facts
4148
Q2075:What are two examples of paracrine hormones?
Genetics Flash Facts
4149
prostaglandins and neurotransmitters
Genetics Flash Facts
4150
Q2076:What are two classes of telecrine hormones?
Genetics Flash Facts
4151
endocrine and GI hormones
Genetics Flash Facts
4152
Q2077:What are the two classes of hormones?
Genetics Flash Facts
4153
Hydrophocis and Hydrophilic
Genetics Flash Facts
4154
Q2078:Where is the receptor for water soluble hormone?
Lipid soluble?
Genetics Flash Facts
4155
Water- receptor on cell membrane;Lipid - inside the cell Zinc
Finger
Genetics Flash Facts
4156
Q2079:What happens to the hormone inside the cell?
Genetics Flash Facts
4157
Water - second messengers;Lipid - hormone receptor complex
binds to response elements (HRE in enhancer region)
Genetics Flash Facts
4158
Q2080:How are water soluble hormones controlling gene
expresion?
Genetics Flash Facts
4159
Through proteins like cAMP respones element binding
(CREB)
Genetics Flash Facts
4160
Q2081:Which process (water or lipid soluble) is faster?
Genetics Flash Facts
4161
water soluble
Genetics Flash Facts
4162
Q2082:What hormone group uses Leucine Zippers?
Genetics Flash Facts
4163
Water Soluble
Genetics Flash Facts
4164
Q2083:Give three examples of water soluble?
Genetics Flash Facts
4165
Insulin;Glucagon;Catecholamines
Genetics Flash Facts
4166
Q2084:What are 4 examples of lipid soluble hormones?
Genetics Flash Facts
4167
Steroids;Calcitriol;Thyroxines;Retinoic Acid
Genetics Flash Facts
4168
Q2085:What are the three second messengers for water
soluble hormones?
Genetics Flash Facts
4169
cAMP;PIP2 (DAG; IP3; Ca2+);cGMP
Genetics Flash Facts
4170
Q2086:What does cAMP control? protein/enzyme/kinase?
Genetics Flash Facts
4171
Gs protein; adenyl cyclase enzyme; protein kinase A
Genetics Flash Facts
4172
Q2087:What does PIP2 control? protein/enzyme/kinase?
Genetics Flash Facts
4173
Gq; phospholipase C; protein kinase C
Genetics Flash Facts
4174
Q2088:What does cGMP control? protein/enzyme/kinase?
Genetics Flash Facts
4175
none; guanyl cyclase; protien kniase G
Genetics Flash Facts
4176
Q2089:What are two examples of cAMP control?
Genetics Flash Facts
4177
glucagon;epinephrine (alpha2 and beta)
Genetics Flash Facts
4178
Q2090:What are two examples of PIP2?
Genetics Flash Facts
4179
vasopressin;epinephrine (alpah 1)
Genetics Flash Facts
4180
Q2091:What are two examples of cGMP?
Genetics Flash Facts
4181
Atrial Natriuretic Factor (ANF);Nitric Oxide (NO)
Genetics Flash Facts
4182
Q2092:What does insulin; growth factor control?
protein/enzyme/kinase?
Genetics Flash Facts
4183
monomeric p21ras; none; tyrosine kinase
Genetics Flash Facts
4184
Q2093:What are some examples of insulin and growth factors
control?
Genetics Flash Facts
4185
insulin;insulin-like growth factor (IGF);platelet-derived
growth factor (PDGF);Epidermal Growth Factor (EGF)
Genetics Flash Facts
4186
Q2094:What water soluble hormone system has a 7 helix-
span?
Genetics Flash Facts
4187
cAMP and PIP2 system
Genetics Flash Facts
4188
Q2095:Whioh system works inside the nucleus?
Genetics Flash Facts
4189
cAMP through CREB protein
Genetics Flash Facts
4190
Q2096:Which system works with the E.R.?
Genetics Flash Facts
4191
PIP2; releases Ca2+ from E.R.
Genetics Flash Facts
4192
Q2097:What system doesn't requiere G proteins?
Genetics Flash Facts
4193
cGMP for example Atrial Natriuretic Factor (ANF)
Genetics Flash Facts
4194
Q2098:What two protoncogenes are associated with G
proteins?
Genetics Flash Facts
4195
1) p21ras oncogene ;colon; lung; breast and bladder CA;2) gsp
oncogene;pituatary tumor; adenomas; endocrine ovarian
turmos
Genetics Flash Facts
4196
Q2099:What protein is stimulated in Cholera toxin?
Genetics Flash Facts
4197
Gs alpha stimulates increase in cAMP
Genetics Flash Facts
4198
Q2100:What is similar in ADP-ribosylation of Gs alpha?
Genetics Flash Facts
4199
Cholera toxin and E. coli toxin
Genetics Flash Facts
4200
Q2101:What bacteria inhibits Gi alpha?
Genetics Flash Facts
4201
Pertussis;Increase activity of adenyl cyclase
Genetics Flash Facts
4202
Q2102:What does p21 ras do?
Genetics Flash Facts
4203
stimulates monomeric G protein
Genetics Flash Facts
4204
Q2103:What is SH2 linked with?
Genetics Flash Facts
4205
Tyrosine Kinase
Genetics Flash Facts
4206
Q2104:What is sildenafil associated with?
Genetics Flash Facts
4207
inhibits cGMP phosphodiesterase (PDE) in vascular smooth
muscle
Genetics Flash Facts
4208
Q2105:What is the correct sequence in cGMP and sildenafil?
Genetics Flash Facts
4209
increase cGMP--> increase protein kinase--> vasodilation
Genetics Flash Facts
4210
Q2106:What is associated with growth factor?
Genetics Flash Facts
4211
tyrosine kinase
Genetics Flash Facts
4212
Q2107:Vitamins
Genetics Flash Facts
4213
Chp. 10
Genetics Flash Facts
4214
Q2108:What enzymes is biotin involved in?
Genetics Flash Facts
4215
All cabroxylases;pyruvate; acetyl coA; propionyl coA
carboxylase
Genetics Flash Facts
4216
Q2109:Which enzymes is vitamin B1 involved in?
Genetics Flash Facts
4217
Thiamine is B1 involved in ;pyruvate dehydrogenase;alpha-
ketoglutarate dehydrogenase;transketolase
Genetics Flash Facts
4218
Q2110:What pathways are involved with Thiamine?
Genetics Flash Facts
4219
B1 is involved in;PDH (pyruvate DHG);TCA cycle (alpha-
kg);HMP Shunt (transketolase)
Genetics Flash Facts
4220
Q2111:What are the symptoms of B1 deficiency?
Genetics Flash Facts
4221
Wernicke- ataxia; nystagmus; ophtalmoplegia;Korsakoff-
confabulation; psychosis;Wet Beri-beri cardiac failure lots of
ATP needed
Genetics Flash Facts
4222
Q2112:What is vitamin B3?
Genetics Flash Facts
4223
Niacin
Genetics Flash Facts
4224
Q2113:What is vitamin B3 involved with?
Genetics Flash Facts
4225
dehydrogenases
Genetics Flash Facts
4226
Q2114:What co-factors are made by B3?
Genetics Flash Facts
4227
NAD and NADP
Genetics Flash Facts
4228
Q2115:What disease comes about with B3 deficiency?
Genetics Flash Facts
4229
diarrhea; dementia; dermititis ;pellagra
Genetics Flash Facts
4230
Q2116:What is a.a. deficient in B3 deficiency?
Genetics Flash Facts
4231
tryptophan (in corn)
Genetics Flash Facts
4232
Q2117:What is folic acid involved in? (enzyme)
Genetics Flash Facts
4233
thymidylates synthase;purine synthesis enzymes
Genetics Flash Facts
4234
Q2118:What is the MCC of B1 deficiency?
Genetics Flash Facts
4235
Alcoholism
Genetics Flash Facts
4236
Q2119:What is the MCC of thiamine def.?
Genetics Flash Facts
4237
alcoholism and pregnancy
Genetics Flash Facts
4238
Q2120:How long is thiamine stored?
Genetics Flash Facts
4239
3 months
Genetics Flash Facts
4240
Q2121:What are the risks of folic acid deficiency?
Genetics Flash Facts
4241
homocystinemia;deep vein thrombosis and atherosclerosis
Genetics Flash Facts
4242
Q2122:What happens to fetus if there is folic acid def.?
Genetics Flash Facts
4243
neural tube defects
Genetics Flash Facts
4244
Q2123:What is vitamin B12 involved in? enzymes?
Genetics Flash Facts
4245
Homocysteine methyltransferase;Methymalonyl CoA mutase
Genetics Flash Facts
4246
Q2124:What pathways is B12 involved in?
Genetics Flash Facts
4247
methionine; SAM;odd-carbon FA;val; met; ile; thr
Genetics Flash Facts
4248
Q2125:What two vitamins cause megaloblastic anemia?
Genetics Flash Facts
4249
B12 and folic acid
Genetics Flash Facts
4250
Q2126:What is the MCC of B12 def?
Genetics Flash Facts
4251
pernicious anemia
Genetics Flash Facts
4252
Q2127:What are other causes of B12 def.?
Genetics Flash Facts
4253
aging; poor nutrition; bacterial overgrowth of terminal
ileum;resection of terminal ileum secondary to Crohn's
DZ;chronic pancreatitis;vegans;infection with D. Latum
Genetics Flash Facts
4254
Q2128:What is the difference between B12 and folic acid def.?
Genetics Flash Facts
4255
B12 has progressive peripheral neuropathy
Genetics Flash Facts
4256
Q2129:What enzymes are involved with B6 vitamin?
Genetics Flash Facts
4257
B6 is pyridoxine;Aminotransferases;AST (GOT);ALT
(GPT);Lamba-Aminolevulinate synthase
Genetics Flash Facts
4258
Q2130:What pathways is B6 involved in?
Genetics Flash Facts
4259
protein catabolism;heme synthesis
Genetics Flash Facts
4260
Q2131:What is the MCC of vit. B6 def.?
Genetics Flash Facts
4261
isoniazis therapy
Genetics Flash Facts
4262
Q2132:What do you find in B6 def.?
Genetics Flash Facts
4263
sideroblastic anemia;cheilosis and stomatitis;convulsions
Genetics Flash Facts
4264
Q2133:What is B2 vitamin?
Genetics Flash Facts
4265
RI BO flavin
Genetics Flash Facts
4266
Q2134:What cofactors are derived from B2?
Genetics Flash Facts
4267
FAD(H2)
Genetics Flash Facts
4268
Q2135:What enzymes are involved with B2?
Genetics Flash Facts
4269
dehydrogenases
Genetics Flash Facts
4270
Q2136:What findings w/ B2 def?
Genetics Flash Facts
4271
Corneal neovascularization;Cheilosis;Stomatitis;Magenta-
Colored Tongue
Genetics Flash Facts
4272
Q2137:What enzymes are involved with vitamin C?
Genetics Flash Facts
4273
prolyl hydroxylases;Lysyl hydroxylases;DOPAMINE
hydroxylase
Genetics Flash Facts
4274
Q2138:What pathways are involved with vitamin C?
Genetics Flash Facts
4275
collagen syntehsis;catecholamine synthesis;(absoprtion of
Iron from GI tract)
Genetics Flash Facts
4276
Q2139:What is the MCC of vit. C def?
Genetics Flash Facts
4277
diet deficient in fruit and green vegetables
Genetics Flash Facts
4278
Q2140:What vitamin is involved in carboxylation of glutamic
acid?
Genetics Flash Facts
4279
vitamin K
Genetics Flash Facts
4280
Q2141:What factors are involved in vitamin K?
Genetics Flash Facts
4281
2; 7; 9; 10 Protein C and S
Genetics Flash Facts
4282
Q2142:What is vitamin A involved in? Dz?
Genetics Flash Facts
4283
night blidness;follicular hyperkeratosis;xerophtalmia
Genetics Flash Facts
4284
Q2143:What is another name for vitamin A?
Genetics Flash Facts
4285
carotene;involved in retinoic acid and retinol ;ol oic;behave as
steroid hormones
Genetics Flash Facts
4286
Q2144:What part of vitamin A is involved in rod and cone cell
division?
Genetics Flash Facts
4287
Retinal;al
Genetics Flash Facts
4288
Q2145:What vitamin prevents oxidation of LDL particles?
Genetics Flash Facts
4289
vitamin E
Genetics Flash Facts
4290
Q2146:What is another name for vitamin E?
Genetics Flash Facts
4291
tocopherol
Genetics Flash Facts
4292
Q2147:What vitamin acts as steroid hormone uptake of
dietary Ca+ from gut?
Genetics Flash Facts
4293
Vitamin D
Genetics Flash Facts
4294
Q2148:What two disease cause by vitamin D def?
Genetics Flash Facts
4295
children: Rickets;Adults: Osteomalacia
Genetics Flash Facts
4296
Q2149:What is the physiologic response to hypocalcemia?
Genetics Flash Facts
4297
- increase PTH;- PTH binds to proximal tubules;- cAMP
activate 1-alpha-hydroxylase;- 1;25 DHCC acts on duodenal
epithelial cells;- Zinc finger proteins binds to response
elements (in enhancer region of DNA);- induce synthesis of
calcium binding proteins
Genetics Flash Facts
4298
Q2150:What vitamin is toxic in pregnancy?
Genetics Flash Facts
4299
Vitamin A (Acutane) used to treat ACNE
Genetics Flash Facts
4300
Q2151:What vitamin D does the skin produce?
Genetics Flash Facts
4301
cholecalciferol (vitamin D3)
Genetics Flash Facts
4302
Q2152:What happens to vitamin D in the liver?
Genetics Flash Facts
4303
25-hydroxylation in the liver
Genetics Flash Facts
4304
Q2153:What is needed in patients with renal dz; fanconi sx;
and genetic deficiency of 1-alpha-hydroxylase?
Genetics Flash Facts
4305
they all need to be supplemented with 1;25
DHCC;dihydrocolecalciferol;since renal 1-alpha-hydroxylase
is not working
Genetics Flash Facts
4306
Q2154:Patients with liver damage should be given what?
Genetics Flash Facts
4307
25-DHCC or 1;25 DHCC
Genetics Flash Facts
4308
Q2155:Liver provides what to vitamin D?
Genetics Flash Facts
4309
two things;1st cholesterol to skin to make 7-
dehyrocholesterol;2nd 25-hydroxylation
Genetics Flash Facts
4310
Q2156:What is the comercial name for a retinoic acid that is
teratogenic?
Genetics Flash Facts
4311
isotretinoin
Genetics Flash Facts
4312
Q2157:When does vitamin K act?
Genetics Flash Facts
4313
it is a co-translational modification;it acts during translation
Genetics Flash Facts
4314
Q2158:What causes vit. K deficiency? (drug)
Genetics Flash Facts
4315
1) phenylhydantoins during pregnancy ;vit. k deficient
baby;2) breast-fed newborns;3) fat malabsoprtion (bile duct
occlusin);4) prolong tx w/ antibiotics
Genetics Flash Facts
4316
Q2159:What is seen in the lab for vit K def?
Genetics Flash Facts
4317
increase PT;factor II
Genetics Flash Facts
4318
Q2160:What drug is a direct inhibitor of vit. K?
Genetics Flash Facts
4319
warfarin and coumadin
Genetics Flash Facts
4320
Q2161:Inheritance of CF?
Genetics Flash Facts
4321
Autosomal recessive
Genetics Flash Facts
4322
Q2162:Inheritance of albinism?
Genetics Flash Facts
4323
Autosomal recessive
Genetics Flash Facts
4324
Q2163:Inheritance of alpha-1 antitrypsin deficiency?
Genetics Flash Facts
4325
Autosomal recessive
Genetics Flash Facts
4326
Q2164:Inheritance of phenylketonuria?
Genetics Flash Facts
4327
Autosomal recessive
Genetics Flash Facts
4328
Q2165:Inheritance of thalassemias?
Genetics Flash Facts
4329
Autosomal recessive
Genetics Flash Facts
4330
Q2166:Inheritance of sickle cell anemia?
Genetics Flash Facts
4331
Autosomal recessive
Genetics Flash Facts
4332
Q2167:Inheritance of glycogen storage diseases?
Genetics Flash Facts
4333
Autosomal recessive
Genetics Flash Facts
4334
Q2168:Inheritance of mucopolysaccharidoses (EXCEPT
HUNTER'S)?
Genetics Flash Facts
4335
Autosomal recessive
Genetics Flash Facts
4336
Q2169:Inheritance of sphingolipidoses (EXCEPT FABRY'S)?
Genetics Flash Facts
4337
Autosomal recessive
Genetics Flash Facts
4338
Q2170:Inheritance of infant polycystic kidney disease?
Genetics Flash Facts
4339
Autosomal recessive
Genetics Flash Facts
4340
Q2171:Inheritance of hemochromatosis?
Genetics Flash Facts
4341
Autosomal recessive
Genetics Flash Facts
4342
Q2172:Inheritance of Fragile X syndrome?
Genetics Flash Facts
4343
X-linked recessive
Genetics Flash Facts
4344
Q2173:Inheritance of Duchenne's muscular dystrophy?
Genetics Flash Facts
4345
X-linked recessive
Genetics Flash Facts
4346
Q2174:Inheritance of Hemophilia A and B?
Genetics Flash Facts
4347
X-linked recessive
Genetics Flash Facts
4348
Q2175:Inheritance of Fabry's (a sphingolipidosis disease)?
Genetics Flash Facts
4349
X-linked recessive
Genetics Flash Facts
4350
Q2176:Inheritance of G6PD deficiency
Genetics Flash Facts
4351
X-linked recessive
Genetics Flash Facts
4352
Q2177:Inheritance of Hunter's syndrome (a
mucopolysaccharidosis disease)?
Genetics Flash Facts
4353
X-linked recessive
Genetics Flash Facts
4354
Q2178:Inheritance of OCULAR albinism?
Genetics Flash Facts
4355
X-linked recessive
Genetics Flash Facts
4356
Q2179:Inheritance of Lesch-Nyhan syndrome?
Genetics Flash Facts
4357
X-linked recessive
Genetics Flash Facts
4358
Q2180:Inheritance of Bruton's agammaglobulinemia?
Genetics Flash Facts
4359
X-linked recessive
Genetics Flash Facts
4360
Q2181:Inheritance of Wiskott-Aldrich syndrome?
Genetics Flash Facts
4361
X-linked recessive
Genetics Flash Facts
4362
Q2182:how many chromosomes and autosomes does each cell
have?;what is the genetic term?
Genetics Flash Facts
4363
46 chromosomes;22 pairs of autosomes;1 pair of sex
chromosomes;"Diploid"
Genetics Flash Facts
4364
Q2183:Definition;a chromosome number that is not a multiple
of 23 (the normal haploid number)
Genetics Flash Facts
4365
Aneuploidy
Genetics Flash Facts
4366
Q2184:(2) ways that a haploid can become aneuploidy
Genetics Flash Facts
4367
Nondisjunction;(ex - Down's);Anaphase Lag;(monosomy)
Genetics Flash Facts
4368
Q2185:what most commonly occurs w/ a polyploidy
fetus?;give an example of what polyploidy means
Genetics Flash Facts
4369
spontaneous abortion;Polyploidy = multiples of 23
chromosomes;ex) 69 chromosomes in patient
Genetics Flash Facts
4370
Q2186:Definition;two acrocentric chromosome are joined by
common centromere causing the joining of the long arms (and
possible loss of the short arms)
Genetics Flash Facts
4371
Robersonian Translocation
Genetics Flash Facts
4372
Q2187:Definition;the normal inactivation of one X
chromosome
Genetics Flash Facts
4373
Lyonization;(creation of Barr Body)
Genetics Flash Facts
4374
Q2188:How many Barr Bodies;1. XX;2. XY;3. XXXY
Genetics Flash Facts
4375
XX = 1 barr body;XY = NO barr bodies;XXXY = 2 barr
bodies
Genetics Flash Facts
4376
Q2189:Definition;when the cells in the body have a different
genetic make-up (such as random X inactivation in females)
Genetics Flash Facts
4377
Mosaicism
Genetics Flash Facts
4378
Q2190:Dx;large forehead; broad nasal bridge; epicanthal folds;
Brushfield spots; simian crease;genetic problem?
Genetics Flash Facts
4379
Down's syndrome;;(Trisomy 21)
Genetics Flash Facts
4380
Q2191:MCC of Down's syndrome;what is the other
cause?;what is the "Familial form"?
Genetics Flash Facts
4381
Nondisjunction;;(Robertsonian) Translocation;(familial form)
Genetics Flash Facts
4382
Q2192:MC heart defect w/ Down's syndrome;what is it due
to?
Genetics Flash Facts
4383
Septum primum-type ASD;due to: Endocardial Cushion
defect
Genetics Flash Facts
4384
Q2193:(3) MC complications of Down's syndrome
Genetics Flash Facts
4385
AAA;ASD;ALL;Alzheimers
Genetics Flash Facts
4386
Q2194:what is the maternal screening for Down's;1. Alpha-
fetoprotein;2. hCG;3. Unconjugated estriol
Genetics Flash Facts
4387
AFP = Low;hCG = High;E2 = Low
Genetics Flash Facts
4388
Q2195:Dx;severe mental retardation; microcephaly; wide-set
eyes; low birth weight; round face; unusual cry;genetic
problem?
Genetics Flash Facts
4389
Cri du chat;(deletion: 5p-)
Genetics Flash Facts
4390
Q2196:Dx;cardiac abnormalities; hypocalcemia; thymic
aplasia; abnormal facies; cleft palate;genetic problem?
Genetics Flash Facts
4391
DiGeorge syndrome;(also called Velocardialfacial
synd);(22q11 microdeletion);*signs = CATCH-22
Genetics Flash Facts
4392
Q2197:Dx;mental retardation; prominent occiput;
Micrognathia; Rocker-bottom feet; index finger overlaps 3rd
and 4th fingers; Congenital heart dz;genetic problem?
Genetics Flash Facts
4393
Edwards syndrome;(Trisomy 18 - nondisjunction);*18 =
Election = Edwards
Genetics Flash Facts
4394
Q2198:Dx;mental retardation; microcephaly; Microphthalmia;
cleft lip and palate; Polydactyly; rocker-bottom feet;genetic
problem?
Genetics Flash Facts
4395
Patau syndrome;(Trisomy 13 - nondisjunction);13 = Puberty
= Patau (= 13 fingers)
Genetics Flash Facts
4396
Q2199:Definition;disorder when there are at least two X-
chromosomes and one or more Y-chromosomes
Genetics Flash Facts
4397
Klinefelter syndrome
Genetics Flash Facts
4398
Q2200:Dx;male w/ Atrophic testes; Tall stature;
Gynecomastia; decreased testosterone; increased pituitary
gonadotropins; male infertility;genetic problem?
Genetics Flash Facts
4399
Klinefelter syndrome;(maternal meiotic nondisjunction);[Kline
felt her TAG him]
Genetics Flash Facts
4400
Q2201:Dx;Violent behavior; tall; severe Acne
Genetics Flash Facts
4401
XYY syndrome
Genetics Flash Facts
4402
Q2202:MCC of Primary Amenorrhea
Genetics Flash Facts
4403
Turner's syndrome
Genetics Flash Facts
4404
Q2203:Dx;Short stature; shield-like chest; Amenorrhea;
Webbed neck; Ovary replaced by Fibrous Streaks;genetic
problem?
Genetics Flash Facts
4405
Turner's syndrome;(XO w/o Barr bodies);[Turner WAS not
feminine]
Genetics Flash Facts
4406
Q2204:MC cardiac problem w/ Turner's syndrome
Genetics Flash Facts
4407
Coarctation of the aorta
Genetics Flash Facts
4408
Q2205:(2) common cardiac defects w/ 22q11 syndromes
(DiGeorge)
Genetics Flash Facts
4409
Truncus Arteriosus;Tetralogy of Fallot;[where all the T's
went to;]
Genetics Flash Facts
4410
Q2206:Dx;mental retardation; long face w/ large jaw; large
everted ears; Autism; Macro-orchidism;genetic problem?
Genetics Flash Facts
4411
Fragile X syndrome;(X-lined defect w/ CGG repeats);[big
testicles = X-rated]
Genetics Flash Facts
4412
Q2207:what is the underlying (biochemical) cause of Fragile X
syndrome?;what is unusual about this syndrome?
Genetics Flash Facts
4413
defect in Methylation of FMR1 gene;X-linked problem that
may show signs of retardation in male and female offspring
Genetics Flash Facts
4414
Q2208:Definition;severity of Dz worsens or age of onset of
dz is earlier in succeeding generations;(example)
Genetics Flash Facts
4415
Anticipation;(Huntingtons)
Genetics Flash Facts
4416
Q2209:Definition;hereditary disorders in which differing
phenotypes occur depending on whether an abnormal gene is
of maternal or paternal origin;(examples)
Genetics Flash Facts
4417
Genomic Imprinting;(Prader-Willi or Angelman)
Genetics Flash Facts
4418
Q2210:Dx;mental retardation; hypogonadism; hypotonia;
behavior problems; uncontrolled appetitie leading to obesity
and DM;genetic problem?
Genetics Flash Facts
4419
Prader-Willi syndrome;(5q11-13 deletion on father's
chromosome)
Genetics Flash Facts
4420
Q2211:Dx;mental retardation; ataxia; seizures; inappropriate
laughter;genetic problem?
Genetics Flash Facts
4421
Angelman syndrome;(5q11-13 deletion on mother's
chromosome)
Genetics Flash Facts
4422
Q2212:Definition;Not all individuals w/ mutant genotype
show mutant phenotype
Genetics Flash Facts
4423
Incomplete penetrance
Genetics Flash Facts
4424
Q2213:Definition;one gene has greater then one effect on the
individual's phenotype
Genetics Flash Facts
4425
Pleiotropy
Genetics Flash Facts
4426
Q2214:Definition;a heterozygote produces a nonfunctional
altered protein that also prevents the normal gene product
from functioning
Genetics Flash Facts
4427
Dominant Negative mutation;(exerts a Dominant effect)
Genetics Flash Facts
4428
Q2215:Definition;mutations at different loci can produce the
same phenotype;(example)
Genetics Flash Facts
4429
Locus Heterogenicity;(Albinism)
Genetics Flash Facts
4430
Q2216:Equation for Hardy-Weinberg population
genetics;Disease Prevalence
Genetics Flash Facts
4431
p^2 + 2pq + q^2 = 1
Genetics Flash Facts
4432
Q2217:Equation for Hardy-Weinberg population
genetics;Allele Prevalence
Genetics Flash Facts
4433
p + q = 1
Genetics Flash Facts
4434
Q2218:Equation for Hardy-Weinberg population
genetics;Heterozygote Prevalence;(p and q on separate alleles)
Genetics Flash Facts
4435
HP = 2pq
Genetics Flash Facts
4436
Q2219:type of inheritance;often due to Structural defects
Genetics Flash Facts
4437
Autosomal Dominant
Genetics Flash Facts
4438
Q2220:type of inheritance;often due to Enzyme deficiencies
Genetics Flash Facts
4439
Autosomal Recessive
Genetics Flash Facts
4440
Q2221:Main sign of;X-linked Recessive
Genetics Flash Facts
4441
no male-to-male transmission
Genetics Flash Facts
4442
Q2222:Main sign of;X-linked Dominant
Genetics Flash Facts
4443
All females are affected by father
Genetics Flash Facts
4444
Q2223:Lysosomal storage Dz;peripheral neuropathy of hands
and feet; angiokeratomas; CV and renal
Dz;Enzyme?;inheritance?
Genetics Flash Facts
4445
Fabry's Dz;(alpha-Galactosidase A);X-recessive
Genetics Flash Facts
4446
Q2224:Lysosomal storage Dz;hepatosplenomegaly; aseptic
necrosis of femur; bone pain; unique macros;Enzyme?
Genetics Flash Facts
4447
Gaucher's Dz;(Glucocerebrosidase)
Genetics Flash Facts
4448
Q2225:Lysosomal storage Dz;progressive neurodegeneration;
hepatosplenomegaly; cherry-spot on macula;Enzyme?
Genetics Flash Facts
4449
Niemann-Pick;(Sphingomyelinase)
Genetics Flash Facts
4450
Q2226:Lysosomal storage Dz;progressive neurodegeneration;
developmental delay; cherry-spot macula; lysozymes w/
onion skin;Enzyme?
Genetics Flash Facts
4451
Tay-Sachs Dz;(Hexosaminidase A)
Genetics Flash Facts
4452
Q2227:Lysosomal storage Dz;peripheral neuropathy;
developmental delay; optic atrophy;Enzyme?
Genetics Flash Facts
4453
Krabbe's Dz;(beta-Galactosidase);[Krabs have small eyes]
Genetics Flash Facts
4454
Q2228:Lysosomal storage Dz;developmental delay;
gargoylism; airway obstruction; corneal clouding;Enzyme?
Genetics Flash Facts
4455
Hurler's syndrome;(Alpha-L-IDuronidase);[A Lit-ID in
Quasimoto caused him to HURL the GARGOYLE]
Genetics Flash Facts
4456
Q2229:Lysosomal storage Dz;mild developmental delay; mild
gargoylism; airway obstruction; aggressive
behavior;Enzyme?;inheritance?
Genetics Flash Facts
4457
Hunter's syndrome;(Iduronate Sulfatase);[Hunter's Aggressive
ID Shot the X];X-recessive
Genetics Flash Facts
4458
Q2230:Familial Dyslipidemia type;Inc Chylomicrons
only;pathology?
Genetics Flash Facts
4459
Type I;(hyperchylomiconemia);Lipoprotein Lipase
deficiency
Genetics Flash Facts
4460
Q2231:Familial Dyslipidemia type;Increased LDL only;(high
blood cholesterol);pathology?
Genetics Flash Facts
4461
Type IIa;(hypercholesterolemia);Low LDL receptors
Genetics Flash Facts
4462
Q2232:Familial Dyslipidemia type;Increased LDL and
VLDL;pathology?
Genetics Flash Facts
4463
Type IIb;(combined hyperlipidemia);Hepatic overproduction
of LDL
Genetics Flash Facts
4464
Q2233:Familial Dyslipidemia type;Increased IDL;
VLDL;pathology?
Genetics Flash Facts
4465
Type III;(dysbetalipoproteinemia);Altered Apo-E
Genetics Flash Facts
4466
Q2234:Familial Dyslipidemia type;Increased VLDL
only;(high blood TG);pathology?
Genetics Flash Facts
4467
Type IV;(hypertriglyceridemia);Hepatic overproduction of
VLDL
Genetics Flash Facts
4468
Q2235:Familial Dyslipidemia type;Increased VLDL;
chylomicrons;pathology?
Genetics Flash Facts
4469
Type V;(mixed hypertriglyceridemia);Inc production or Dec
clearance of VLDL and chylomicrons
Genetics Flash Facts
4470
Q2236:Autosomal Dominant Dz;cafe-au-lait spots; neural
tumors; pigmented iris hamartomas; scoliosis
Genetics Flash Facts
4471
Neurofibromatosis Type 1;(Von Recklinghausen Dz);(chrom
17)
Genetics Flash Facts
4472
Q2237:Autosomal Dominant Dz;bilateral acoustic neuromas;
optic pathway gliomas; juvenile cataracts
Genetics Flash Facts
4473
Neurofibromatosis Type 2;(chrom 22)
Genetics Flash Facts
4474
Q2238:Autosomal Dominant Dz;facial lesions;
hypopigmented "ash leaf spot" on skin; cortical and retinal
hamartomas; seizures; mental retardation
Genetics Flash Facts
4475
Tuberosus Sclerosis
Genetics Flash Facts
4476