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Mendelian GeneticsMendelian Genetics
How Genes Work
Who Are You?Who Are You?
Phenotype–How you
look; PHysical appearance
Genotype–Your genetic
makeup; GENEs
Modern genetics began with Gregor Mendel’s quantitative experiments with pea plants
Father of GeneticsFather of Genetics
Figure 9.2A, B
Stamen
Carpel
Mendel crossed pea plants that differed in certain characteristics and traced the traits from generation to generation
Figure 9.2C
This illustration shows his technique for cross-fertilization
1 Removed stamensfrom purple flower
White
Stamens
Carpel
PurplePARENTS(P)
OFF-SPRING
(F1)
2 Transferred pollen from stamens of white flower to carpel of purple flower
3 Pollinated carpel matured into pod
4 Planted seeds from pod
Genetics BasicsGenetics BasicsChromosomes occur in pairs, one from
MOM, one from DAD (homologues)Genes are carried on chromosomes Genes code for a trait or characteristic
(I.e. hair color)Alternate forms of that trait are called
ALLELES (ie. Blond, brown, redhead, etc)
Alleles…Alleles…
Alleles can be dominant or recessive
Heterozygous vs. homozygousOnly way to “see” a recessive
trait?
Mendel ‘s Mendel ‘s basic lawsbasic laws
Law of Segregation
Law of Independent Assortment
The chromosomal basis of Mendel’s principles
Figure 9.17
Walter Sutton’s Theory of Walter Sutton’s Theory of Chromosomal InheritanceChromosomal Inheritance
(Mendel’s proof)(Mendel’s proof)Gametes contribute to heredity via
nuclear material (chromosomes)Homologues segregate during
meiosisHomologues separate
independently of other homologous pairs
ProbabilityProbability
Mathmatical model of how often specific events will happen
# of occurances/# of attempts
Punnett SquarePunnett Square
Visual representation or model of – what alleles can be present in
gametes – how those alleles can recombine in
offspringUsed to determine the probability of
offspring’s genetic makeup
Monohybrid CrossMonohybrid Cross
One gene–2 alleles considered (one from
mom, one from dad
Dihybrid CrossDihybrid Cross
2 genes–4 alleles considered
How can we determine Homo- How can we determine Homo- vs. heterozygous individuals?vs. heterozygous individuals?
Test Cross–Must use homo recessive to
conduct cross in order to “see” the questionable allele
What Mendel Didn’t SeeWhat Mendel Didn’t SeeMultiple allelesCodominanceEpistasisPolygenic traits or Continuous VariationPleiotropyIncomplete Dominance or “blended
inheritance”Environmental EffectsSex linked and sex influenced traits
CoDominanceCoDominance–Both alleles expressed at the
same time; both dominant
Incomplete dominance: neither allele is fully dominant (blended inheritance)
Figure 9.12Ax
EpistasisEpistasis Sequential action of genes
– Product of one gene influences another (one gene gives “permission” for another allele to work
– Gene action acts as a biochemical pathway & feedback inhibition
Ex: Indian corn coloration
PleiotropyPleiotropy
Where one allele may have multiple effects on phenotype–
Normal and sickle red blood cells
Figure 9.14x1
Individual homozygousfor sickle-cell allele
Sickle-cell (abnormal) hemoglobin
Abnormal hemoglobin crystallizes,causing red blood cells to become sickle-shaped
Sickle cells
Breakdown of red blood cells
Clumping of cells and clogging of
small blood vessels
Accumulation ofsickled cells in spleen
AnemiaHeart failure
Pain and fever Brain
damageDamage to
other organs
Spleen damage
Kidney failure
RheumatismPneumonia and other infections
Paralysis
Impaired mental
function
Physical weakness
Continuous VariationContinuous Variationor Polygenic Traitsor Polygenic Traits
Multiple genes acting to influence a characteristic–Produces gradual changes, not
distinct “borders”Ie. Height, weight, nose length, skin pigment
Figure 9.16
P GENERATION
F1 GENERATION
F2 GENERATION
aabbcc(very light)
AABBCC(very dark)
AaBbCc AaBbCc
Sperm
Fra
cti
on
of
po
pu
lati
on
Skin pigmentation
Environmental InfluenceEnvironmental Influence
Example = color change of fur in arctic animals
Same eyes, different lighting Same eyes, different lighting
Multiple AllelesMultiple Alleles
More than one allele per gene
3 alleles (ABO)– 4 phenotypes (A, B, AB, O)
Uses concept of glycoproteins (sugar name tags or antigens) to mark cells
Non-recognition of the correct “name tag” for blood type can cause agglutination
Landsteiner Blood GroupsLandsteiner Blood GroupsType A – galactosamine – AA
(homo) or AO (hetero)Type B – galactose – BB or BOType AB – galactosamine +
galactose (codominant)Type O – no sugar marker - OO
Blood Donor FactsBlood Donor Facts
Universal Donor Universal Recipient
Rh factorRh factorRh factor can be + or –+ is like a “seen” name tag or antigen - is “invisible”Rh- moms that have Rh+ babies are subject
to spontaneous abortions – Erythroblastosis fetalis
– Controlled with an injectionof RhoGam to “hide” babies cells
Sex LinkedSex Linked “Sex on the X” Specific
trait/disorder is found on sex chromosome, usually the X
Usually recessive traits
Seen more often in males than females
Ex: color blindness, hemophilia
Barr Body inactivationBarr Body inactivation
In females, both X chromosomes are not metabolically active
Random inactivation of one X chromosome may influence traits expressed