Population Genetics Flashcards
Population eq assumptions (4)
Random mating
No migrtion
No random fluctuations in allele freq by
-natural selection, genetic drift, founder effect, bottleneck, inbreeding
No selection-all genotypes reproduce well
Natural selection
Sleection vs homozygous for specific allele due to adv for those who a re heterozygotes in a given environment
Genetic drift
non-ranom proportional distribtuion of alleles from one generation to another
founder effect
establishment of deleterious rare alley t high freq in small/isolated population derived from 1 ancestor
bottleneck
alleles at high freq in population that underwent population constriction
Subpopulation stratifcation
selective mating (marriage arrangement) increase homozygous and probability of recessive diseases
P+q=
aa=
bb=
ab=
total alleles of A
Total alleles of b
males in x linked rec traits
1
p^2
Q^2
2pq
p^2+2p
q^2+2q
dizygous for a or b, females are aa, ab, or bb
disease frequency=
q squared????
DO PROBLEM ON SLIDE 6/7/9
Consanguinous marriage increase in abnormatiliies
increase in how close you are related
-increased risk of homozygosity/increased chance of recessive disease
Huntingtons
100% penetrance but late onset
Check risk of being mutated at a given age-see if have disease since dominant-then can see if childd will possibly have it
Reproductive options if you are a carrier
No testing
testing and consult
IVF-PGD selection
CVS.Aminocentesis
Don’t have to tell patient that will havee disease-just ensure baby does not
Hemophilia A
X-linked recessive
100% penetrant in males, 10% in females
Prior probablity
Mendelian probabilties tha tmother is or not a carrier
Conditional probablity
other info in this family-such as brothers
Joint probablity
prouct of prior and conditional probablities
