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Overview

Population Genetics

Population Genetics: the Modern Synthesis


Hardy-Weinberg Law
Evolutionary forces
Questions:
Why are some phenotypes and genotypes common
in a population, while others are rare?
Sven Delaney
School of BABS
s.delaney@unsw.edu.au

Darwin
Darwin proposed the Theory of
Natural Selection in On the
Origin of Species by Means of
Natural Selection (1859)

Why do small populations have high levels of genetic


disorders?
Why do couples (and their families) tend to look
similar?

The Modern Synthesis


Darwin could not explain how variation was inherited;
suggested blending or Lamarckian inheritance

Variation within a population


Struggle for survival
Fittest survive & reproduce
Adaptation

Mendels work published in 1865, but ignored until


early 20th century
Fusion of Mendels Laws and Darwins theory &
developments in statistics and other fields resulted in
the modern synthesis (neo-Darwinism)
Population and evolutionary genetics

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

Gene pool: all of the alleles in the population

Genetic description of populations?


Hardy-Weinberg Law

Hardy-Weinberg Law: Derivation

Hardy-Weinberg Law: Derivation


Sperm

Sperm
A

AA

Aa

p
A

AA
p2

Aa
pq
Punnett square

Eggs
Punnett square

Eggs

Aa
pq

q
Aa

aa

aa
q2

Terms with p and q are proportions, hence


Genotypic ratio = 1AA: 2Aa:1aa

(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

Equilibrium due to random segregation of alleles


in heterozygotes
fixed allele frequencies constrain genotype frequencies
since (p + q) = 1 and p2 + 2pq + q2 = 1

Approach to equilibrium in an
ideal population

Frequency of Aa (2pq)

Genotype frequencies may change slightly, but remain


close to an equilibrium value

p2 + 2pq + q2 = 1

and

Allele and genotype frequencies at


equilibrium

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

What are the allele and genotype frequencies at T1 and T2?


p(MM) = ?

; p(Mm) = ? ; p(mm) = ?

Small populations are more affected by random genetic drift


(changes in allele frequencies due to chance events) than large
populations

Why???

p=? ;q=?

Evolutionary Forces

Evolution in Action

1. Small population size

Small population size may occur because of bottleneck or


founder effects
Bottleneck effect

Examples: fire,
flood, famine,
disease

Now what happens to allele proportions?

Evolutionary Forces

Evolutionary Forces

2. Non-random (assortative) mating


1. Small population size

Founder effect
Amish

Individuals choose mates on the basis of phenotype (not randomly)


2 types: negative (like chooses unlike) and positive (like chooses
like)
Negative

Norfolk Island

Eclectus parrot

Evolutionary Forces

Positive

Narcissus

Evolutionary Forces

3. Mutation

4. Migration

Only source of new alleles

Refers to genetic exchange with other populations

Very slow: NOT responsible for rapid changes in allele frequency

Barriers between populations may be physical, sociocultural etc.

Provides the raw material for selection

Isolated populations may develop reproductive incompatibility


mechanisms that prevent interbreeding ( separate species)

Human Migration

Evolutionary Forces
5. Selection

May be natural or artificial, positive or negative


Modes of selection

Examples of Selection
Darwins finches

Scale-eating fish

Heterozygote Advantage
Heterozygote has greater fitness than either
homozygote
Example: sickle-cell anemia

-In malarial regions, two alleles of hemoglobin -chain


(sickle-cell, HbS and normal, HbA) are often present
-HbS/HbA heterozygotes are less susceptible to malaria
than HbA/HbA homozygotes, and lack the severe symptoms
of sickle-cell anemia in HbS/HbS homozygotes

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.

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