Population Genetics Flashcards
1
Q
Exceptions to Hardy-Weinberg Law
A
- assortative mating
- consanguinity and inbreeding
- genetic drift and founder effect
- heterozygote advantage and selection
2
Q
Assumptions of Hardy-Weinberg Principle
A
•large population •random mating •no effect of recurrent mutation •no migration in or out of population •autosomal locus **with these gene frequency and genotype frequency do not change from generation to generation
3
Q
equations of hardy-weinberg
A
p+q=1
p^2+2pq+q^2=1
4
Q
genetic drift
A
in small population, allele frequencies may change just by CHANCE, ie reduction in population
5
Q
assortative mating
A
- ie congenitally deaf individuals tend to marry other congenitally deaf individuals
- non-random mating
6
Q
stratification
A
- racial, ethnic, religious, educational factors
* nonrandom mating
7
Q
inbreeding
A
- different from consanguinity
* occurs in small population -> mating within small geographic region
8
Q
founder effect
A
if a mutation is present or arise in a SINGLE individual, the frequency of allele may increase in subsequent generations if population is small
9
Q
maple syrup urine disease
A
- inborn error of leucine, isoleucine, and valine metabolism
- causes neurotoxic sx in first weeks of life
- incidence very high in mennonites likely due to founder effect in small population
10
Q
tay sach disease
A
- high incidence in jewish individuals of ashkenazic descent
* small isolated communities with breeding restricted to those of same faith ethnicity -> assortative mating
11
Q
navajo neurohepatopathy
A
- degenerative neurologic disease with hapatic and/or neurologic dysfunction
- mutation in MPV17 gene -> mitochondrial function
- navajo had population reductions -> increased disease likely due to genetic drift
12
Q
Sickle cell anemia
A
stratification
13
Q
cystic fibrosis
A
stratification
