Professional Documents
Culture Documents
2
Factors Aec,ng Expression of the Genotype
Popula/on Gene/cs
Vicki Park, PhD
1
Popula/on Gene/cs
Principles that Inuence Allele Frequencies
Eects of environment on allele frequencies
Natural selec,on and the special case of heterozygote
advantage
2
Selec,on
Heterozygote advantage
Balancing selec,on
Selec,on against each homozygote; increased tness of
heterozygote
Ex: sickle cell muta,on & malaria
3
Heterozygote Advantage?
Examples of environmental exposures
hypothesized to confer advantage to heterozygotes
4
Founder Eect
Within a small
popula,on, a
previously rare allele
becomes more
common.
5
Popula,on Stra,ca,on
Popula,on-specic varia,on in allele frequencies
Elevated risk of autosomal recessive disease in popula,on
subgroups
6
7
Gene Flow & Gene,c Admixture
Gene ow is the exchange of genes between
dierent popula,ons
Any popula,on
stra,ca,on between
groups 1 & 2 will alter
allele frequencies in the
admixed popula,on.
8
Ellis-van Creveld syndrome is a generally rare dwarsm
syndrome that shows high prevalence in the Amish
popula,on of south-central Pennsylvania. What is the likely
cause of this disease cluster?
Heterozygote advantage
Founder eect
Popula,on stra,ca,on
Gene,c admixture