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7/28/2019 Biochemistry Word Association
1/12
BIOCHEMISTRY WORD ASSOCIATION
Leafy Vegetables Vitamin A
Pyridoxine B6
Niacin B3
Pantothenate B5
Vitamin K
dependent factors
II, VII, IX, X, protein
C and SProtein
malnutrition, fatty
liver, big belly
Kwashiokor
Location of Vitamin
D conversionPCT in kidneys
TTP Thiamine (B1)
FAD, FMN Riboflavin (B2)
Stored in the liverB12 (cobalamin and
folate)
PLP Pyridoxine (B6)
Keeps iron in Fe2+form and absorption
Vitamin C
Chelilosis and
Corneal
Vascularization
Riboflavin deficiency
Energy
malnutrition,
muscle wasting,
skinny as bones
Marasmus
Deficiency causes
macrocytic anemiaWITH neurological
problems
Vitamin B12Cobalamin
Absorption
dependent on the
gut and pancreas
Fat soluble vitamins
Deficiency includes
peripheral
neuropathy
B6 (Pyridoxine)
Diarrhea, Dementia,
and DermatitisPellagra
NADH/NAD+ ratioin liver Ethanol metabolismAlcoholism Thiamine deficiency
Most common
deficiency in USFolate
Cofactor in PPP Thiamine B1
Helps convert
dopamine NE Vitamin C
Deficiency caused
by excessive raw
egg consumption
Biotin
Abnormal myelinVitamin B12
deficiency
Green Leaves FolateCoenzyme for 1
carbon transfersFolate
Synthesized only by
bugs
Vitamin B12
Cobalamin
Excess seen in
sarcodosis
Vitamin D and
calcium.
Inhibits
gluconeogensis and
hypoglycemiaEthanol
Malabsorption, lack
of intrinsic factor,absence of terminal
ileum
Causes of vitaminB12 deficiency
Enzyme that
activates vit D1 hydroxylase
Deficiency causes
scurvyVitamin C
Deficiency induced
by INH and oral
contraceptives
Vitamin B6
Pyridoxine
Shunts away from
glycolysis andtoward fatty acid
synthesis fattyliver
Chronic alcoholism
Antioxidant Vitamin E
PellagraVitamin B3 (niacin)
deficiency
NAD+ is the limiting
reagent
In ethanol
metabolism
Dermatitis, glossitis,
and diarrhea
B-complex
deficienciesHydroxylation of
proline and lysine in
collagen syn.
Vitamin C
Important in
synthesis of DNA
and RNA
Folate
Cobalamin B12
7/28/2019 Biochemistry Word Association
2/12
BIOCHEMISTRY WORD ASSOCIATION
NAD+ Niacin- B3
Macrocytic anemia
WITHOUT
neurological
problems.
Folate deficiency
INH depletes this B6- pyridoxineSynthesized by
intestinal floraVitamin K
Derived from
tryptophan using
vitamin B6
Niacin (B3)
BeriBeri
Vitamin B1
(thiamine)
deficiency
Constituent of CoA B5 (pantothenate)
Wernicke-Korsakoff
syndrome
Vitamin B1
(thiamine)deficiency
Given to a newborn
at birth to prevent
hemorrhage
Vitamin K
Deficiency caused
by antibiotic useBiotin
Thiamine B1
Active form of
vitamin D
Calcitriol (1,25 (OH)2
D3
Schilling Test Vitamin B12
Catalyzes -carboxylation ofglutamic acid on
blood factors
Vitamin K
Blocks vitamin K Warfarin
Deficiency cause
night blindness and
dry skin
Vitamin A
Involves conversion
of homocysteinemethionine
Vitamin B12
Reduces neural tubedefects Folate
NUTRITIONAL SECTION
7/28/2019 Biochemistry Word Association
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BIOCHEMISTRY WORD ASSOCIATION
MOLECULAR SECTION
The only histone
NOT in the
nucleosome core
H1
RNA Polymerases
I rRNAII mRNA
III- tRNA
I Ran 2 My 3 Trees
Substituting a
purine for a purine
or pyrimidine for
pyrimidine
Transition
3 steps of
translation
Initiation
Elongation
Termination
Start codon alsomethionine
AUG
Complex RNA
PolymeraseProkaryotes
Amino acids
necessary for purine
synthesis
GAG: Glycine,
Asparate, and
Glutamine
DNA Polymerase I
and IIIProkaryotic
P siteAccommodates
growing Peptide
Specific glycosylasesrecognize and
remove damaged
bases, AP
endonuclease cuts
DNA at apyrimidinic
site, empty sugar is
removed
Base excision repair
More than 1 codon
may code for the
same aa
Degenerate/
redundant
Prevents repair ofthymidine dimers
Mutation in
xeroderma
pigmentosum
5 3- synthesisand proofreads with
35 exonucleaseDNA polymerase III
E siteHolds empty tRNA
as it Exits
Less condensed, Euchromatin
transcriptionally
active chromatin
Inhibits RNA
polyermase II- amanitin
A site
Incoming Aminoacyl
tRNAUnmethylated,
newly synthesized
string is recognized,
mismatched
nucleotides are
removed
Mismatch repair
snRNPsInvolved in pre-
mRNA splicing
mRNA reads from .. 53
Mismatch repair ismutated in this
Hereditary
nonpolyposiscolorectal cancer
(HNPCC)
mRNA stop codon
U Go Away UGA
U Are Away UAA
U Are Gone UAG
RNA Polymerases I,
II, IIIEukaryotes
Specific
endonucleases
release the
oligonucleotide-containing damaged
bases
Nucleotide excision
repair
Tm increases
(melting increases)
With ed G-Ccontent in DNA
Substituting a
purine for a
pyrimidine or vice
versa
Transversion
Condensed,
transciptionally
inactive chromatin
Heterochromatin
Excises RNA primer
with 53exonuclease
DNA Polymerase I
Each codon
specifies only 1 aaUnambiguous
CELLULAR SECTION
7/28/2019 Biochemistry Word Association
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BIOCHEMISTRY WORD ASSOCIATION
Inhibit G1 Sprogression
Rb and p53 tumor
suppressors
Most commonly
effected collagen in
Ehlers-Danlos
Type III
Caused by a defectin fibrillin
Marfans syndrome
Bone, tendon, skin,
late wound healing
collagen type
Type I
Cross links to make
collagen fibers
Covalent lysine-
hydroxylysine
Caused by excess
elastase activityEmphysema
Permanent cells
(stay in Go phase)
Cardiac and skeletal
cells, neurons, RBCs
Mechansim of theblue sclera
Translucency of theCT over the choroid
ATPase that links
peripheral 9
doublets of
microtubules,causes
bending of cilium
Dynein
What step in
collagen synthesis is
inhibited by scurvy?
Hydroxylation of
proline and lysine
residues
Collagen for
granulation tissueand CT Type III
Vesicular trafficking
protein transGolgi
lysosomes andplasma membrane
endosomes
Clathrin
Disease due to a
microtubule
polymerization
defect inphagocytosis
Chediak-Higashi
Syndrome
Blue ScleraOsteogenesis
imperfecta
Made of
polymerized dimers
of and tubulin MicrotubulesCollagen on the BM Type IV
Collagen disease Ehlers-Danlos
associated with
berry anerysms
Act like RER in
neurons, synthesize
of enzymes and
peptide NTs
Nissl Bodies
Disease that results
from an aa
substitution of
glycine cysteinethat messes up 3x
helix of procollagen
Osteogenesis
imperfecta
Vesicular trafficking
protein retrograde
golgi ERCOPI
Cartilage, hyaline,
vitreous body,nucleus pulposus
Type II
Immotile cilia due
to a dynein arm
defect that results
in infertility,
bronchiectasis, and
recurrent sinusitis
Kartageners
syndrome
Failure of addition
of mannose-6-
phosphate to
lysosome proteins
I cell disease
Site of steroid
synthesis and
detoxification of
drugs and poisons
SER
Major component
of RBC membranes,
myelin, bile and
surfactant
Phosphtidylcholine
(Lecithin)
Labile cells (never
go Go, divide fast)
Bone marrow, gut
epi, skin, hair follicle
Vesicular trafficking
protein anterograde
from RER GolgiCOPII
Stable (quiescent)
cells (G1 from Go
when stimulated)
Ex. Hepatocytes,
lymphocytes, etc
METABOLISM SECTION
Causes a backup of Alcoholism, pyruvate
7/28/2019 Biochemistry Word Association
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BIOCHEMISTRY WORD ASSOCIATION
pyruvate and
alanine lacticacidosis
dehydrogenase
deficiency
Use anaerobic
glycolysis
RBCs, leukocytes,
kidney medulla, lens,
testes, and corneaATPase inhibitor in
ETCOligomycin
TCA Cycle
components
Citrate Is Krebs
Starting Substrate For
Making Oxaloacetate
Irreversible
enzymes
Hexokinase/
glucokinase,
phosphofructokinase
Pyruvate kinase,
pyruvate
dehydrogenase,citrate synthase,
isocitrate
dehydrogenase, -ketoglutarate
dehydrogenase
Form of amino
acids found in
proteins
L amino acids
Rate determining
enzyme for de
novo pyrimidime
synthesis
Aspartate
transcarbamylase
Asparate Oxalacetate
Uncoupling agents
2,4-DNP, aspirin,
thermogenin in
brown fat, alcohol
NADPH is used in
these three
processes
1. Anabolic2. Respiratory
burst
3. P-450Absence of
galactose-1-p
uridyltransferase
Galactosemia build
up of toxic galactitol
Retardation, self-
mutilation,
aggression, gout
Symptoms of Lesch-
Nyhan Syndrome
Conversion of
homocysteine to
methionine uses
this cofactor
Vitamin B12
Altered
hemoglobin
precipitates in
RBCs
Heinz bodies
Deficiency in
hexosaminidase A accumulationof GM2
ganglioside
Tay-Sachs disease
Glutathione PPP shunt
Ammonium in
transported via
two amino acids
Alanine and
glutamate
Complex I
inhibitor in ETCRotenone
Glutamate -ketoglutarate
Rate determiningenzyme for
gluconeogenesis
Fructose 1,6
bisphophatase
Amino acids that
are ed inhistones
Arginine and Lysine
Galactosemia
causes
Cataracts,
hepatosplenomegaly
mental retardation
Glucokinase is
used instead of
hexokinase inthese tissues
Liver and cells of
pancreas
Deficiency in
sphinomyelinase
accumulationof sphinomyelin
Niemann-Pick disease
Amino acids that
are glucogenic
Methionine, Valine,
Arginine, Histidine
Deficient in
chronic
granulomatous dx
NADPH oxidase
Deficiency in -galactosidase A
accumulation of
ceramide
trihexoside
Fabrys disease
Alanine Pyruvate
Rxn catalyzed by
myeloperoxidase
H202 + Cl HOCl*
(bleach)
7/28/2019 Biochemistry Word Association
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BIOCHEMISTRY WORD ASSOCIATION
Dont need insulin
for glucose uptake
BRICK LBrain, RBC,
Intestine, Cornea,
Kidney, Liver
Deficiency in -glucocerbrosidase accumulation
of
glucocerebroside
Gauchers disease
(most common
lysosomal disease)
Rate determining
enzyme for
glycogen synthesis
Glycogen synthase
Ketone bodies are
used by what in
starvation
Brain and heart
Complex III
inhibitor in ETC Antimycin A
Inducible by
insulin
Glucokinase NOT
hexokinase
GLUT 1 Receptors RBCs, Brain
Deficiency in
galactocerebrosid
asaccumulation of
galactocerebrosid
e
Krabbes disease
Congential defect
in tyrosinase socant tyrosine
melanin or
defective tyrosine
transporter
Albinism
Rxn catalyzed by
superoxide
dismutase
O2* H2O2
Cherry red spots,
lysosomes with
onion skin,
neurodegeneration
Tay-Sachs disease
Has variable
inheritance due to
locus
heterogeneity
Albinism
Deficiency in
aldose B causes
Fructose-1-P to build
up and in
availbalility of
phosphate
Rate determining
enzyme for de
novo purine
synthesis
Glutamine-PRPP
amidotransferase
Ms that look likecrumpled tissue
pp
Gauchers cells
Cannot participate
in gluconeogenesis
Muscle cells (only
liver, kidney, and epi
cells can)
GLUT 4 receptorsFat and muscle
(respond to insulin)
This is the product
of the PPP shuntNADPH
glycogen inmuscle, but
cannot break it
down painfulcramps,
myoglobinuria
with strenuous
exercise
McArdles disease
(type V GSD)
Without reduced
glutathione, you
cant convert what
H202 2H20
Hemolytic anemiaseen in this
deficiency
G6PD deficiency
Deficiency in
arylsufatase Aaccumulation of
cerebroside
sulfate
Metachromatic
leukodystrophy
Mechanism of
hemolytic anemia
caused by G6PD
deficiency
in NADPH poordefense mechanisms
to oxidizing agents
Rate determining
enzyme for TCA
cycle
Isocitrate
dehydrogenase
Congenital
deficiency of
homogentisic acid
oxidase in
degradation of
Alkaptouria
7/28/2019 Biochemistry Word Association
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BIOCHEMISTRY WORD ASSOCIATION
tyrosine
Tyrosine makes
these
Thyroxine, Melanin,
Dopamine, NE, Epi
Complex IV
inhibitor in ETCCO, CN-
Products oftryptophan
Niacin, serotonin
Central and
peripheral
demyelination
with ataxia,
dementia
Metachromatic
keukodystrophy
Progressive
neurogeneration,
cherry-red spot on
macula,
hepatosplenomeg,foam cells
Niemann-Pick disease
Transketolases
require this
coenzyme
Vitamin B1
Location of FFA
synthesisCytoplasm
The porphyrin ring
of heme is made
from this amino
acid
Glycine
Negative feedback
at rate-limiting
step of glycolysis
ATP, citrate
Ketone body not
detected in the
urine
-hydroxybutyrate
GLUT 2 Receptors cells, liver, kidneyRate determining
enzyme for
glycolysis
Phosphofructokinase
1
Deficiency inMcArdles disease
Skeletal muscle
glycogen
phosphorylase
Made from
PhenylalanineTyrosine
Positive feedback
for rate limiting
step of glycolysis
AMP, fructose 2,6-BP
Delivers
triglycerides to
peripheral tissues
and delivers
cholesterol to
back to liver inremnants
Chylomicrons
Product of
histidineHistamine
Essential
fructosuria is a
defect in
Fructokinase
Negative feedback
at first step of
glycolysis
Glucose 6-P
Lipoprotein that is
secreted byintestinal epi cells
Chylomicrons
Complex
dehydrogenases
Pyruvate and -ketoglutarate
In a fasting state
when you need
glucose
Enzyme - Fructose
bisphophatase 2
Converts fructose-2.6-
bisphosphate
fructose 6-P
glucose
Result of
phagocytic
removal of Heinz
bodies by MsBite cells
Causes of
hemolytic anemia
in G6PD deficient
patients
Fava beans,
sulfonamides,
primaquine, anti-TB
drugs
The most potent
activator of
phosphofructokina
s
F2,6 BP
Location of FFA
degradation Mitochondria
The only pure
ketogenic amino
acids
Lysine and Leucine
Rate determining
enzyme for
Glycogenolysis
Glycogen
phosphorylase
Chylomicron B-48, A-IV, C-II, E
7/28/2019 Biochemistry Word Association
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BIOCHEMISTRY WORD ASSOCIATION
apolipoproteins
Type of fatty acid
that can serve as a
glucose source
Odd-chain fatty acids
that yield 1 propionyl-
CoA
Mediates reverse
cholesteroltransport. Acts as
a repository for
apoC and apoE
HDL
Activated carrier
for aldehydesTPP
LDL
apolipoproteinsB-100
Rate determining
enzyme for urea
cycle
Carbamoyl phosphate
synthase I
Deficient enzyme
in Coris Disease
Debranching enzyme
-1,6 glucosidaseGlutamate GABA, Glutathione
Activated carrier
for electrons
NADH, NADPH,
FADH2
Gluconeogenesis
starts with what
Pyruvate
oxalacetate in mito
then PEP in cytosol
Blocked
degradation of
branched aminoacids (Ile, Val, Leu)
Maple Syrup Urine
Disease
Negative feedback
for pyruateacetyl CoA in
glycolysis
ATP, NADH, acetyl-
CoA
Rate determining
enzyme for fatty
acid synthesis
Acetyl-CoA
carboxylase
Disease caused by
the absence of
HGPRT
Lesch-Nyhan
Syndrome
In an active fed
state when you
need to
breakdown
glucose
Enzyme
phosphofructokinase
2 converts fructose 6-
P Fructose2,6-P
which is a POTENT
activator of PFK-1
Cofactors for
pyruvate and -KG Pyrophosphate B1;TPP
DH complex FAD B2
NAD B3
CoA B5
Lipoic acid
Glucose 6-
phosphatasedeficiency
resulting in
accumulation of
excessive glycogen
Von Gierkes Disease
Black urine and
dark CTAlkaptonuria
Negative feedback
at PEP pyruvatein glycolysis
ATP, alanine
Adenosinedeaminase
deficiency can
cause this
SCID prevents DNA
synthesislymphocytes
Positive feedback
for PEPpyruvate in
glycolysis
Fructose 1,6 BP
Rate determining
enzyme for heme
synthesis
ALA synthase
Milder form of
type 1 GSD with
normal blood
lactate levels
Coris disease (type III
GSD)
Delivers hepatic
cholesterol to
peripheral tissues.
Taken up by target
cells by
endocytosis
LDL
Activated carrier
CO2Biotin
Converts
hypoxanthineIMP and guanine
GMPHGPRT
Staghorn calculi
Ammonium
magnesium
phosphate kidney
stones
7/28/2019 Biochemistry Word Association
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BIOCHEMISTRY WORD ASSOCIATION
Activated carrier
for CH3 groupsSAM
Severe fasting
hypoglycemia,glycogen in liver,
blood lactate,hepatomegaly.
Von Gierkes disease
(type 1 GSD)
Arginine Creatine, Urea, NO
Rate determining
enzyme for Fatty
acid oxidation
Carnitine
acyltransferase I
Lipoprotein that is
secreted by both
liver and intestine
HDL
in phenylalaninehydroxylase so
cant tyrosinePKU
What is ed inhyper
cholesterolemia
(Type IIa familial
dyslipidemia)
LDL with elevated
levels of cholesterol in
the blood
GSD that results in
cardiomegaly and
systemic findings
early death
Pompes disease (type
II GSD)
Delivers hepatictriglycerides to
peripheral tissues
VLDL
Activated carrier
for 1-carbon unitsTetrahydrofolates
Activated carrier
for acyl
Coenzyme A,
lipoamide
Lipoprotein that is
secreted by the
liver
VLDL
Treatment for CN-
poisoning
Use nitrites to oxidize
Hb to MetHb which
will bind CN- then use
thiosulfate to bind
this CN forming
thiocyanate which is
renally excreted
Form of Hb that
has low affinity for
O2
T (tense)
Oxidized form of
Hb has affinityfor CN
Methemoglobin
VLDL
apolipoproteinB-100, C-II and E
Treatment of
jaundice
newborns
Exposure to UV lightconverts bilirubin
urine-soluble
products
Rate determining
enzyme for
ketogenesis
HMG-CoA synthase
Deficient enzyme
in Pompes
disease
Lysosomal 1,4-glucosidase
Activated carrier
for phoshoryl
ATP
Deficient enzyme
in Von Gierkes Dx
Glucose-6-
phosphatase
IDL
apolipoproteinsB-100 and E
phenylalanineand tyrosine
consumption (no
diet pops!)
PKU
Rate determining
enzyme for
cholesterolsynthes
HMG-CoA reductase
Gives bruises their
blue green colorBiliverdin
Lipoprotein lipase
deficiency or
altered
apolipoprotein C-II
Hyperchylo-
micronemia (familial)
in LDL receptors Type IIa familialdyslipidemia - hypercholesterolemia
Microlytic
hypochromic
anemia pathology
Underproduction ofheme
What is ed intype IV familial
dyslipidemia
(hypertri-
glyceridemia)
VLDL and TG is
elevated in the blood.
7/28/2019 Biochemistry Word Association
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BIOCHEMISTRY WORD ASSOCIATION
Vitamin needed
for heme synthesisB6
Hepatic overload
of VLDL
Hypertriglycerid-emia
(familial)
Formed in the
degradation ofVLDL. Delivers TGL
and cholesterol to
liver, where they
are degraded to
LDL
IDL
Rate determining
enzyme for PPP
Shunt
Glucose-6-phosphate
dehydrogenase
What is ed intype I familial
dyslipidemia(hyperchylo-
micronemia)
Chylomicrons with TG
and cholesterol ed inthe blood
Musty body odor
in PKU due to
Aromatic amino acid
metabolism disorder
Form of Hb afO2
R (relaxed)
BIOCHEMISTRY - GENETICS
Marfans syndrome AD
Location of CFTR
gene
Ch 7
Presence of both
normal and mutated
mtDNA variableexpression in
mitochondrial
inherited diseases
Heteroplasmy
Trisomy __ for Down
Syndrome21
X-linked recessive
disorders
Be Wise Fools
GOLD Heeds False
Hope
Trinucleotide repeat
expansion diseases
Huntingtons
disease, myotonic
dystrophy,
Friedreichs ataxia,
fragile X.
Occurs when cells in
body have different
genetic makeup
Mosaicism
Familial Hyper-
cholesterolemiaAD
Trisomy __ for
Pataus syndrome13 (Puberty)
MR, obesity,
hypogonadism,hyptonia
Pader-Willi
syndrome (paternalactive deletion)
Polydactyly Pataus syndrome
Bilateral absence of
vas deferns in malesCystic fibrosis
Fragile X X-linked recessive
Differences in
phenotype depend
on whether mutation
is from mom or dad
Imprinting
suspectibility toother tumors
Neurofibromatosis
type 1
-hCG Prenatal screeningfor DownSyndrome
Neurofibromatosis
type 2AD
2nd most common
cause of genetic
mental retardation
Fragile X
Always bilateral due
to a mutation in
APKD1
Adult Polycystic
Kidney Disease
Example of locus
heterogeneityAlbinism
Triple repeat
disorder (CGG) may
show genetic
anticipation
Fragile X
G6PD Deficiency X-linked recessive
Trisomy __ for
Edwards syndrome18 (Election age)
Example of
anticipation
Huntingtons
disease
95% meiotic
nondisjunction
Genetics of down
syndrome
Brutons
agammaglobulinemiaX-linked recessive
Autosomal recessive
defect in CFTR geneCystic fibrosis
Neurofibromatosis AD
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BIOCHEMISTRY WORD ASSOCIATION
type I
Ocular albinism X-linked recessive
Adult Polycystic
kidney diseaseAD
Clenched hands Edwards syndrome
Wiskott-Aldrichsyndrome
X-linked recessive
Simian crease Down Syndrome
Mutations at
different loci can
produce the same
phenotype
Locus
heterogeneity
-fetoprotein Prenatal screeningfor DownSyndrome
Treatment of CF
N-acetylcysteine to
loosen mucousplugs
Rocker bottom feet Edward and
Pataus syndrome
MR, seizures, ataxia,
inappropriate
laughter, HAPPY
PUPPET
Angelmans
Syndrome
(maternal active
deletion)
Disease risks for
Down Syndrome
ALL, Alzheimers >
35Random X
inactivation in
females
Lyonization
Location of NF2 gene Ch. 22
Most common cause
of genetic
retardation
Down Syndrome
Due to defective or
absent LDL receptor
Familial hyper-
cholesterolemia
Hardy-Weinberg
equation
p2
+ 2pq + q2
= 1
p + q = 1
Long face with a
large jawFragile X
Gene location of
Neurofibromatosis
type 1 mutation
Ch. 17
Examples of
imprinting
Angelmans
Syndrome mom
Prader-Willi
syndrome
paternal
Chromosomal
inversion that
involves thecentromere and
proceeds through
meiosis
Pericentric
Bilateral acoustic
neuroma
Neurofibromatosis
type 2
Space btn first 2 toes Down Syndrome
Ash leaf spots on skin Tuberous sclerosis
Fabrys Disease X-linked recessive
Associated with
polycystic liver, berry
aneurysms, andmitral valve prolapse
Adult Polycystic
Kidney Disease
Severity of disease
worsens/age of
onset is earlier in
succeeding gener.
Anticipation
Fibrillin gene
mutation CT dxs Marfans syndromeFrame-shift mutation
deletion ofdystrophin gene
Duchennes
Muscular
Dystrophy
Location of APC genefor familial
adenomatous
polyposis
Ch 5
Septum primum-type
ASD due to
endocardial cushion
defects
Down Syndrome
Example of
incomplete
penetrance
Tuberous sclerosis
nuchaltranslucency
Prenatal screening
for Down
Syndrome
Reason for
pseudohypertrophy
of calf muscles
Fibrofatty
replacement of
muscle
Hemophilia A and B X-linked recessive
Chromosomal
inversion that doesParacentric
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BIOCHEMISTRY WORD ASSOCIATION
not involve the
centromere and does
not proceed through
meiosis
Huntingtons disease AD
Congenital defect inshort arm of ch 5
Cri-du-chatsyndrome
Large everted ears Fragile X
Hemangioblastomas
of retina/cerebellum
/ medulla
von Hippel-Lindau
disease
Hunters Syndrome X-linked recessive
DiGeroge Syndrome No thymus
Pseudohypertrophy
of calf muscles
Duchennes
Muscular
Dystrophy
Bilateral renal cellcarcinomas
von Hippel-Lindaudisease
Caf au lait spots,
neural tumors, Lisch
nodules
Neurofibromatosis
type 1
Defect of fibroblast
growth factor (FGF)
receptor 3
Achondroplasia
Hereditary
spherocytosisAD
Adenoma sebaceum Tuberous sclerosis
Weakness in pelvicgirdle muscle and
progresses superiorly
DuchennesMuscular
Dystrophy
PheochromocytomaNeurofibromatosis
type 1
Lesch-Nyham
syndromeX-linked recessive
Duchennes muscular
dystrophyX-linked recessive
APKDI gene location Ch. 16
Familial
AdenomatousPolyposis AD
Location of VHL gene Ch. 3
Deletion of VHL gene
(tumor suppressor)
von Hippel-Lindau
disease
Tuberous sclerosis AD
X linked defect
affecting methylationFragile X
and expression of
FMR1 gene
Achondroplasia AD
Mutated dystrophin
gene
Beckers Muscular
Dystrophy
DiGeorge Syndrome 22q11Gene location for
Huntingtons diseaseCh 4
Gowers maneuver
Duchennes
Muscular
Dystrophy
von Hippel-Lindau
diseaseAD
Macro-orchidism Fragile X
Triplet repeat
disorder that levelsof GABA and Ach in
brain
Huntingtons
disease
Diagnosis of
Duchennes Muscular
Dystrophy
CPK and musclebiopsy