Population Genetics

 Population genetics:
The branch of genetics that
studies the genetic makeup
of groups of individuals and
how a group’s genetic
composition changes with
time.
 Gene pool:
The genetic information carried
by members of a population
constitutes that population’s
gene pool.

 -the sum total of all alleles in

the population
 Genotypic and Allelic Frequencies Are Used to
Describe the Gene Pool Of a Population
Calculating genotypic frequencies
• Number of individuals possessing the genotype divided
by total number of individuals in sample
• For a locus with three genotypes AA, Aa, and aa, the
frequency (f ) of each genotype is

N: total # of individuals
f: frequency each genotype
Genotypic and Allelic Frequencies Are Used to
Describe the Gene Pool Of a Population

Calculating allelic frequencies

• Number of copies of a particular allele present in a
sample divided by total number of alleles
The Hardy-Weinberg Law provides an equation to
relate the genotype frequencies and allele frequencies
in a randomly mating population

Hardy–Weinberg Law :
• Assumption: population is large, randomly mating,
not affected by mutation, migration, or natural
selection. Under these conditions, the Hardy–
Weinberg model makes two predictions:
• Prediction 1: the allelic frequencies of a population
do not change over time.
• Prediction 2: the genotypic frequencies stabilize (will
not change) after one generation in the proportion
.
The general description of allele and genotype
frequencies under Hardy–Weinberg assumptions
 THE HARDY WEINBERG EQUATION

So the genotype frequencies are:

AA = p2 homozygous dominant allele pair frequency

Aa = 2pq heterozygous allele frequency
aa = q2 homozygous recessive allele pair frequency

or p2 + 2pq + q2 = 1

When genotypes are in the expected proportions of p2,

2pq, and q2, the population is said to be in Hardy–
Weinberg equilibrium.
 Only one of the populations below is in
genetic equilibrium. Which one?

Population sample Genotypes Allele frequencies

AA Aa aa A a
100 20 80 0
100 36 48 16
100 50 20 30
100 60 0 40
 Only one of the populations below is in
genetic equilibrium. Which one?

Population sample Genotypes Allele frequencies

AA Aa aa A a
100 20 80 0 0.6 0.4
100 36 48 16 0.6 0.4
100 50 20 30 0.6 0.4
100 60 0 40 0.6 0.4
 Only one of the populations below is in
genetic equilibrium. Which one?

Population sample Genotypes Allele frequencies

AA Aa aa A a
100 20 80 0 0.6 0.4
100 36 48 16 0.6 0.4
100 50 20 30 0.6 0.4
100 60 0 40 0.6 0.4
 SICKLE CELL ANAEMIA IN WEST AFRICA,
A BALANCED POLYMORPHISM
 haemoglobin gene
Normal allele HbN
Sickle allele HbS
Phenotypes Normal Sickle Sickle Cell Alleles
Cell Trait Anaemia
Genotypes HbNHbN HbN HbS HbS HbS HbN HbS
Observed 0.56 0.4 0.04
frequencies
Expected
frequencies
 SICKLE CELL ANAEMIA IN WEST AFRICA,
A BALANCED POLYMORPHISM
 haemoglobin gene
Normal allele HbN
Sickle allele HbS
Phenotypes Normal Sickle Sickle Cell Alleles
Cell Trait Anaemia
Genotypes HbNHbN HbN HbS HbS HbS HbN HbS
Observed 0.56 0.4 0.04 0.76 0.24
frequencies
Expected 0.58 0.36 0.06
frequencies
© 2016 Paul Billiet ODWS
 Evolutionary Forces Potentially Cause
Changes in Allelic Frequencies within a
Population
 Changes in allele frequencies that are
identified in a population can shed light on
how it is evolving.
 Factors affecting Population genetic
variation include:
 Genetic Drift
 Mutation
 Migration (gene flow)
 Selection
 Nonrandom Mating
 Genetic Drift
 random changes in allele frequency in a
population, Or effect of chance on a
population’s gene pool
 by chance, alleles may be lost from
population,
• Causes of genetic drift
− Founder effect
− the geographical separation of a subset of the
population, leads to new population
− Genetic bottleneck
− A chance event or catastrophe can reduce the
genetic variability within a population
Genetic drift is significant only in small populations
 Gene Flow

• Gene flow: the flow of alleles in and out of a

population due to the migration of individuals or
gametes
• Gene flow can occur when an individual travels
from one geographic location to another.
• The variable flow of individuals in and out of the
group;
 changes the gene structure of the population,
 it can also introduce new genetic variation to
populations in different geological locations and
habitats
 Mutation

 Species evolve because of the accumulation of

mutations that occur over time.
 The appearance of new mutations is the most
common way to introduce novel genotypic and
phenotypic variance.
 Some mutations are harmful and are quickly
eliminated from the population by natural
selection.
 Others are beneficial and will spread through
the population
Natural Selection

 The phenotypes that confer improved ability to survive

and reproduce become more common, and the
phenotypes that confer poor prospects for survival and
reproduction may eventually disappear
 Selection occurs when individuals with a particular
genotype enjoy an advantage in survival and
reproduction over other genotypes= ‘most fit’
An individual’s genetic contribution to future generations is
called its fitness
− high rates of reproductive success = high fitness,
− Because of natural selection, populations and species
change
− Natural Selection is a major force driving allele
frequency
Nonrandom Mating

 If individuals nonrandomly mate with their

peers, the result can be a changing population.
 There are many reasons nonrandom mating
occurs;
 One reason is simple mate choice
 Assortative mating: when individuals tend to
mate with those who are phenotypically similar
to themselves
 Another cause of nonrandom mating is physical
location
 SUMMARY
Genetic drift
Mutation All can affect the
Mating choice transmission of genes
from generation to
Gene flow/ Migration
generation
Natural selection

Genetic Equilibrium
If none of these factors is operating then the
relative proportions of the alleles (the ALLELE
FREQUENCIES) will be constant.
RECESSIVE ALLELES

EXAMPLE ALBINISM IN THE BRITISH

POPULATION
Frequency of the albino phenotype
= 1 in 20 000 or 0.00005

© 2016 Paul Billiet ODWS

A = Normal skin pigmentation allele
Frequency = p
a = Albino (no pigment) allele
Frequency = q
Phenotypes Genotypes Hardy Observed
Weinberg frequencies
frequencies
Normal AA p2

Normal Aa 2pq

Albino aa q2

© 2016 Paul Billiet ODWS

A = Normal skin pigmentation allele
Frequency = p
a = Albino (no pigment) allele
Frequency = q
Phenotypes Genotypes Hardy Observed
Weinberg frequencies
frequencies
Normal AA p2
0.99995
Normal Aa 2pq

Albino aa q2 0.00005

© 2016 Paul Billiet ODWS

Albinism gene frequencies

Normal allele =A=p=?

Albino allele =q=?

© 2016 Paul Billiet ODWS

Albinism gene frequencies

Normal allele =A=p=?

Albino allele = q =  (0.00005) = 0.007
or 0.7%

© 2016 Paul Billiet ODWS

HOW MANY PEOPLE IN BRITAIN ARE
CARRIERS FOR THE ALBINO ALLELE
(Aa)?
a allele = 0.007 =q
A allele =p
But p+q =1
Therefore p = 1- q
= 1 – 0.007
= 0.993 or 99.3%
The frequency of heterozygotes (Aa) = 2pq
= 2 x 0.993 x 0.007
= 0.014 or 1.4%

© 2016 Paul Billiet ODWS