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Population Genetics
Darwin
Darwin proposed the Theory of
Natural Selection in On the
Origin of Species by Means of
Natural Selection (1859)
Population Genetics
Definitions
Population: a group of interbreeding individuals of
the same species that inhabit a specific place at
the same time
Species: a group of individuals that are capable of
breeding to produce fertile offspring
Hardy-Weinberg Law
A simple model for understanding phenotype,
genotype and allele frequencies in an ideal,
non-evolving population
Considers a single gene with two alleles: A, a
Allele frequencies are p (for A) and q (for a)
Phenotypes:
Homozygous
dominant
Heterozygous Homozygous
recessive
Genotypes:
AA
Aa (or aA)
aa
Genotype
frequencies:
p2
2pq
q2
Sperm
A
AA
Aa
p
A
AA
p2
Aa
pq
Punnett square
Eggs
Punnett square
Eggs
Aa
pq
q
Aa
aa
aa
q2
(p + q) = 1
p = 1-q
q = 1-p
Hardy-Weinberg Equilibrium
Hardy-Weinberg Equilibrium
Non-evolving populations will be in a state of HardyWeinberg equilibrium, in which allele frequencies will
not change from one generation to the next
Approach to equilibrium in an
ideal population
Frequency of Aa (2pq)
p2 + 2pq + q2 = 1
and
0.8
p = 0.75
q = 0.25
0.375
0
0
AA
Aa
3
2
Generation
aa
Hardy-Weinberg in Action
One locus, two alleles: minty (M) and fruity (m)
N = 50, p = q = 0.5, all heterozygotes (p(Mm) = 1.0)
Reproduction!
Evolutionary Forces
H-W equilibrium will be maintained only in the
absence of factors that change allele frequencies (i.e.
evolution = change in allele proportions)
Deviation from H-W equilibrium is a useful indicator
of evolution in action
MM
Mm
mm
Evolutionary forces:
1. Small population size
; p(Mm) = ? ; p(mm) = ?
Why???
p=? ;q=?
Evolutionary Forces
Evolution in Action
Examples: fire,
flood, famine,
disease
Evolutionary Forces
Evolutionary Forces
Founder effect
Amish
Norfolk Island
Eclectus parrot
Evolutionary Forces
Positive
Narcissus
Evolutionary Forces
3. Mutation
4. Migration
Human Migration
Evolutionary Forces
5. Selection
Examples of Selection
Darwins finches
Scale-eating fish
Heterozygote Advantage
Heterozygote has greater fitness than either
homozygote
Example: sickle-cell anemia
Sickle-cell Anemia
Summary
Modern synthesis
Hardy-Weinberg law & equilibrium
p2 + 2pq + q2 = 1
Evolutionary forces
Small population size
Non-random mating
Mutation
Migration
Selection
Examples of selection
References
Campbell, Reece & Meyers, Biology
6th, 7th, 8th or 9th Edition, Chapters 22, 23.
Griffiths et al., Introduction to Genetic Analysis
9th Edition (Ch. 17) or 10th Edition (Ch. 18)
Knox et al., Biology 3rd Edition, Chapter 32.