Prin Gene 3

Duminda Senevirathna
Population Genetics
Objective
At the end of the session, students can summarize basic principles

of population genetics, H-W equation and environmental forces
Learning Outcomes
What is Population Genetics
Gene Pool
Allele frequency
Genotype frequency
Hardy-Weinberg equation
Factors producing changes in populations
Exercises
What is population genetics?
A Branch of genetics
Evolution is a process that takes place in populations of organisms.
To study evolution, we need to shift our focus to population

genetics, the algebraic description of the genetic makeup of a
population and the changes in allelic frequencies in populations
over time.
What is a population...?
Genetic structure of a population
Allele frequency
Genotype frequency
Patterns of genetic variation in populations changes in genetic

structure through time
The study of the change of allele frequencies, genotype

frequencies, and phenotype frequencies
Gene Pool
The total variety of genes and alleles

present in a sexually reproducing
population.
In a given population, the composition of

the gene pool may be constantly changing
from generation to generation.
Undergoing evolutionary change

Gene Pool
Allele frequency
Several forms of each gene may exist and these are called alleles.
The number of organisms in a particular population carrying a

particular allele determines the allele frequency
200 rr = 400 r Allele frequencies:
500 Rr = 500 r 900/2000 = 0.45 r

= 500 R
1100/2000 = 0.55 R
300 RR = 600 R
Total = 2000 alleles

Genotype frequency
The frequencies of particular alleles in the gene pool are of

importance in calculating genetic changes in the population and in
determining the frequency of genotypes.
200 white Genotype frequencies:

200/1000 = 0.2 rr
500 pink
500/1000 = 0.5 Rr
300 red 300/1000 = 0.3 RR
Total = 1000 flowers

Genotype frequency
The frequencies of particular alleles helps to determine the

frequency of genotypes.
Since the genotype of an organism is the major factor determining

its phenotype, calculations of genotype frequency are used in
predicting possible outcomes of particular matings or crosses.
This has great significance in aquaculture and animal farming.

Genotype frequency
The mathematical relationship between the frequencies of alleles

and genotypes in populations was developed independently in 1908
by an English mathematician G.H. Hardly and a German physician W.
Weinberg.
The relationship known as the Hardy-Weinberg equilibrium
‘the frequency of dominant and recessive alleles in a population will

remain constant from generation to generation provided certain
conditions exist’
Genotype frequency
The conditions;
The population is large
Mating is random – No selection
No mutations occur
All genotypes are equally fertile, so that no selection occurs
Generations do not overlap
There is no immigration or emigration from or into the

population, that is, there is no gene flow between
populations
Hardy-Weinberg Equation
Under these conditions, the Hardy–Weinberg model makes two

predictions:
The frequencies of alleles in the gene pool do not change over

time.
If two alleles at a locus, A and a, are considered, after one

generation of random mating, the frequencies of the
genotypes AA:Aa:aa in the population can be calculated as
In most animal populations it is only possible to estimate the

frequency of the two alleles from the proportion of homozygous
recessives
This is the only genotype

that can be identified directly
from its phenotype.
By specifying the conditions under which the population cannot

evolve, the Hardy–Weinberg Law can be used to identify the real-
world forces that cause allele frequencies to change.
In other words, by holding certain conditions constant, use of

Hardy–Weinberg isolates the forces of evolution and allows them to
be quantiﬁed.
It also can be used to identify “neutral genes” in a population gene

pool—those not being operated on by the forces of evolution.
Exercises
Allelic variation in the CCR5 gene
Each lane reveals the genotype of a

single individual
The 1 allele produces a 332-bp fragment

and a 403-bp fragment; the ∆32 allele produces a 332-bp fragment
and a 371-bp fragment
Heterozygotes produce three bands

Exercises
Exercises
The ability to taste the compound PTC is controlled by a dominant

allele T, while individuals homozygous for the recessive allele t are
unable to taste PTC. In a genetics class of 125 students, 88 can taste
PTC and 37 cannot. Calculate the frequency of the T and t alleles in
this population and the frequency of the genotypes.
HINT: This problem involves an understanding of how to determine allele and

genotype frequencies using the Hardy–Weinberg Law. The key to its solution lies
in determining which allele frequency (p or q) you must estimate ﬁrst when
homozygous dominant and heterozygous genotypes have the same phenotype.
Exercises
A very large population of randomly-mating laboratory mice

contains 35% white mice. White coloring is caused by the double
recessive genotype, "aa".
Calculate allelic and genotypic frequencies for this population.

Non-random breeding
Genetic drift
Genetic load
Gene flow
Mutations
Describe how some factors affecting to change allele frequencies of

a population.
These factors can lead to changes in allele frequencies from one

generation to the next.
These assumptions therefore describe the potential forces that

cause allele frequencies to change through time.
Therefore, if we can measure deviations from H-W equilibrium in

populations, we can begin to determine if allele frequencies are
changing, and also begin to measure the forces causing this
change.
Examples
For Example, the Bull’s blood group data:
freq M = p = 0.54
freq N = q = 0.46
Expected genotypic frequencies:
So, if 1000 individuals are sampled in the following generation,

Examples
Since there is no significant deviation from the H-W expectations,

we conclude that assumptions are justified
Examples
Probability level (alpha)
Df 0.5 0.10 0.05 0.02 0.01 0.001

1 0.455 2.706 3.841 5.412 6.635 10.827
2 1.386 4.605 5.991 7.824 9.210 13.815
3 2.366 6.251 7.815 9.837 11.345 16.268
4 3.357 7.779 9.488 11.668 13.277 18.465
5 4.351 9.236 11.070 13.388 15.086 20.517

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Duminda Senevirathna

At the end of the session, students can summarize basic principles

What is Population Genetics

Factors producing changes in populations

Evolution is a process that takes place in populations of organisms.

To study evolution, we need to shift our focus to population

Genetic structure of a population

Patterns of genetic variation in populations changes in genetic

The study of the change of allele frequencies, genotype

The total variety of genes and alleles

In a given population, the composition of

Undergoing evolutionary change

The number of organisms in a particular population carrying a

200 rr = 400 r Allele frequencies:

500 Rr = 500 r 900/2000 = 0.45 r

Total = 2000 alleles

The frequencies of particular alleles in the gene pool are of

200 white Genotype frequencies:

300 red 300/1000 = 0.3 RR

Total = 1000 flowers

The frequencies of particular alleles helps to determine the

Since the genotype of an organism is the major factor determining

This has great significance in aquaculture and animal farming.

The mathematical relationship between the frequencies of alleles

The relationship known as the Hardy-Weinberg equilibrium

‘the frequency of dominant and recessive alleles in a population will

The population is large

Mating is random – No selection

All genotypes are equally fertile, so that no selection occurs

Generations do not overlap

There is no immigration or emigration from or into the

Under these conditions, the Hardy–Weinberg model makes two

The frequencies of alleles in the gene pool do not change over

If two alleles at a locus, A and a, are considered, after one

In most animal populations it is only possible to estimate the

This is the only genotype

By specifying the conditions under which the population cannot

In other words, by holding certain conditions constant, use of

It also can be used to identify “neutral genes” in a population gene

Allelic variation in the CCR5 gene

Each lane reveals the genotype of a

The 1 allele produces a 332-bp fragment

Heterozygotes produce three bands

The ability to taste the compound PTC is controlled by a dominant

HINT: This problem involves an understanding of how to determine allele and

A very large population of randomly-mating laboratory mice

Calculate allelic and genotypic frequencies for this population.

Describe how some factors affecting to change allele frequencies of

These factors can lead to changes in allele frequencies from one

These assumptions therefore describe the potential forces that

Therefore, if we can measure deviations from H-W equilibrium in

For Example, the Bull’s blood group data:

Expected genotypic frequencies:

So, if 1000 individuals are sampled in the following generation,

Since there is no significant deviation from the H-W expectations,

Probability level (alpha)

Df 0.5 0.10 0.05 0.02 0.01 0.001

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