PreStudy

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

Eects of ma,ng behaviors and migra,on

Founder eect
Popula,on stra,ca,on
Gene,c admixture (gene ow)

2
 Selec,on

Dieren,al reproduc,ve tness due to dierences in

genotype
Favorable alleles frequency
Deleterious alleles frequency

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

Sickle cell anemia / malaria

Thalassemia alleles / malaria
Cys,c brosis / cholera; secretory diarrhea
Hereditary hemochromatosis / anemia

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

Ethnicity of gene,c diseases

Neutral polymorphisms and risk alleles for common

diseases o\en exhibit stra,ca,on, a poten,al confounder
in gene,c research
Popula,on stra,ca,on
of alleles involved in
warfarin (coumadin)
metabolism

6
7
 Gene Flow & Gene,c Admixture
Gene ow is the exchange of genes between
dierent popula,ons

Gene,c admixture - result of ma,ng between

previously isolated popula,on subgroups

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