Population Genetics

Objectives
Understand the concept of a population and
polymorphism in populations.
Use the Hardy-Weinberg equation to
examine the frequency of alleles in a
population.
Understand the factors that change allele
frequencies in a population and how they
influence Hardy-Weinberg equilibrium.
Population genetics is the study of
variation in a population
This includes the extent of variation in the
population,
The cause of the variation, and
How the variation changes over
generations.
Populations and Gene Pools (sum of
all of the alleles in a population)
A population is a group of individuals of the same
species that can interbreed with one another.
• Large populations are usually composed of smaller
groups called subpopulations, local populations, or
demes.
These are often separated by geographic barriers
Populations are dynamic units that change from
one generation to the next.
A population's gene pool is all of the alleles
present in that population.
Monomorphic and Polymorphic Genes
Polymorphism - observation that many traits display
variation within a population.
• This is due to two or more alleles for a trait in a
population.
Monomorphic traits exist predominantly in a single allele
in the population.
• Must be found in at least 99% of the population.
Allozymes are alleles of the same gene that encode an
enzyme. The differences in their amino acid structure can
be detected by gel electrophoresis.
• Allozyme studies underestimate genetic variability,
since some mutations do not alter protein mobility.
In most natural populations a substantial percentage of
genes are polymorphic
Examples of beak shape variation in different species of Galapagos finches, as
correlated with feeding.
 The Hardy-Weinberg Equilibrium
Hardy and Weinberg (1908) independently
worked out the mathematical expression that
describes the stability of allele and genotype
frequencies of a population from one generation to
the next. The Hardy-Weinberg Law Describes the
Relationship between Allele Frequencies and
Genotype Frequencies in an Ideal Population

It is also called the Hardy-Weinberg equilibrium

since under defined conditions the allele and
genotype frequencies do not change.
The Hardy-Weinberg equation predicts an
equilibrium in allele and genotype frequencies
assuming the following conditions:
• The population size is large.
• Regarding the gene of interest, members of the
population randomly mate.
• There is no migration into, or out of, the
population.
• There is no survival or reproductive advantage
for the genotypes.
• No new mutations occur in the genes of
interest.
In the natural world, no population
completely satisfies the Hardy-Weinberg
equation. WHY?
A chi square test can be conducted to see if
a population is in Hardy-Weinberg
equilibrium for a given gene.
A population that is not in equilibrium for a
given gene is said to be in disequilibrium.
This is due to a number of factors and is
covered in the following sections.
Allele and Genotype Frequencies
The study of population genetics involves the
examination of allele and genotype frequencies in a
population.

The Hardy-Weinberg law makes two predictions:

(1) the frequency of the alleles in the gene pool does not
change over time

(2) after one generation of random mating, the genotype

frequencies for two alleles can be calculated as
p2 + 2pq + q2 = 1 where p equals the frequency of allele
A, q frequency of allele a, p2 freq homozygous AA, 2pq
freq heterozygous Aa, and q2 freq homozygous aa
Punnett square showing the Hardy-
Weinberg principle.
 Dominant-recessive gene
Example 1 : PTC tasting (T dominant to t)

Taster = 420 (TT, Tt), non-taster = 121 (tt = q2)

Genotype frequency tt = q2 = 121/541 = 0.22

The Hardy–Weinberg Law Can Be
Used for
Frequency t =Multiple
q = √ 0.22Alleles,
= 0.47 X-Linked
p2 + 2pq + q2 = 1
Traits, and Estimating Heterozygote
Frequency T = p = (1- q) = 0.53
Frequencies
p2 = 0.532 (TT) = 0.28, q2 (tt)= 0.22, homozygous

2pq = 2 x 0.53 x 0.47 = 0.49 heterozygous

WHAT IS THE PROPORTION OF INDIVIDUALS HAVING POSSIBLITY TO
CARRY ALBINO IN A POPULATION CONSIST OF 10000 INDIVIDUAL?

Example 2 : Albino

Frequency albino, aa (q2) = 1/10000

= 0.0001

Frequency a = q = √ 0.0001 = 0.01

Frequency A = p = 0.99

Frequency heterozygote Aa = 2pq

= 2 x 0.99 x 0.01
= 0.02 = 2%

2/100 individuals or 200/10000 are carriers

Sex-linked gene
•In using the Hardy-Weinberg equation to
calculate allele and genotype frequencies
for X-linked traits, frequency of the X-
linked allele in the gene pool will equal the
frequency of males expressing the X-
linked trait.
• For females, the frequency of having the
phenotype will be q2 if the allele frequency
is q.
Example : Colour blind (recessive gene c)
Given that the
% colour blindness for man (XcY) = 8%
= 0.08

Genotype = Phenotype

q = 0.08 (800 / 10000 men are colour blind)

% colour blindness for female (XcXc ) = q2

= 0.0064

64/10000 women are colour blind