Population Genetics Flashcards
Gene frequencies
Describes genetic constitution of a population
Population
Breeding group or gene pool
Frequency of all alleles at any one locus must add up
p+q=1
p and q are frequencies of one and another allele
Genotypes must also add up
P+H+Q=1
P=homozygous for one allele
Q=homozygous for other allele
H=heterozygous
Frequency in hardy-Weinberg equilibrium
p^2+2pq+q^2=1
Most often use is to determine heterozygote frequency from recessive birth rate
For disease causing alleles (q), expect many more heteozygotes than homozygous
2pq»q^2
Ratio of carrier to autosomal recessive affected individuals
Great ratio the more rare the disease, makes it harder to remove disease alleles because in carriers
X-linked recessive traits
Derive female heterozygous frequency from male birth rate (q) because male has only one X
Use p=1-q (round it!)
Then 2pq for heterozygous female
Hardy-Weinberg assumptions
Population large
Allele frequencies remain constant over time
Random mating
Exceptions to random mating
Assortative mating (similar phenotype/genotype mate with each other, race, ethnic, consanguinity, etc)
Founder effect, bottle neck effect (smaller population size)
Genetic drift and migration
Race, ethnic background
Mutation
Alter allele frequencies very slowly
u=n/2N
u=mutation rate
n=number of affected patients born to unaffected parents
N=total number of births