:

5.0 POPULATION GENETICS

 5.0 Population Genetics

5.1 Gene pool concept

5.2 Hardy-Weinberg Law
 Learning Outcomes

a) State the Hardy-Weinberg Law

b) Explain ve assumptions of Hardy-

Weinberg Law for genetic equilibrium

c) Calculate allele and genotype frequencies

Learning Outcomes :
5.2 a) State the Hardy-Weinberg Law

The Hardy-Weinberg Equilibrium

- in 1908, G. H. Hardy (an English

mathemathician) and W. Weinberg
(a German physician)
independently identied a
Godfrey Hardy mathematical relationship
(1877-1947)
between alleles and genotypes in
populations.

- This relationship has been called:

- The Hardy-Weinberg Equilibrium
Wilhelm (The Hardy-Weinberg Law) and
Weinberg it concerns allele frequency
(1862-1937)
Learning Outcomes :
5.2 a) State the Hardy-Weinberg Law

Hardy-Weinberg Law

In equilibrium, the frequency of alleles and genotypes in a

population remain constant from generation to generation
under certain conditions.

Hardy-Weinberg equation :

p+q=1

p2 + 2pq + q2 = 1
Learning Outcomes :
5.2 a) State the Hardy-Weinberg Law

Allele frequency

p+q=1

p = frequency of dominant allele (eg: A)

q = frequency of recessive allele (eg : a)
Learning Outcomes :
5.2 a) State the Hardy-Weinberg Law

Genotype Frequency

From equation of allele frequency;

p+q=1

(p + q)2 = (1)2

(p + q)(p +q) = 1

p2 + 2pq + q2 = 1
Learning Outcomes :
5.2 a) State the Hardy-Weinberg Law

Genotype frequency

p2 + 2pq + q2 = 1

p2 = frequency of dominant homozygous

genotype (eg: 'AA')
2pq = frequency of heterozygous genotype
(eg: 'Aa')
q2 = frequency of recessive homozygous
genotype (eg: 'aa')
Learning Outcomes :
5.2 b) Explain ve assumptions of Hardy-Weinberg Law for genetic equilibrium

Five Assumptions of Hardy-Weinberg Law

i. Large population size

ii. Random fertilization / random mating
iii. No mutation
iv. No migration
v. No natural selection
Learning Outcomes :
5.2 b) Explain ve assumptions of Hardy-Weinberg Law for genetic equilibrium

i. Large population size

A large population produces a large sample of

successful gametes so that genetic drift can
be avoided (chance uctuation in the gene that
can cause phenotype frequencies to change
over time)
Learning Outcomes :
5.2 b) Explain ve assumptions of Hardy-Weinberg Law for genetic equilibrium

ii. Random fertilization / random mating

If individuals preferentially choose mates with

certain genotypes, including close relatives
(inbreeding), random mixing of gametes does
not occur
Learning Outcomes :
5.2 b) Explain ve assumptions of Hardy-Weinberg Law for genetic equilibrium

iii. No mutation

Allele and genotype frequencies may change

through the loss or addition of alleles through
mutation
Learning Outcomes :
5.2 b) Explain ve assumptions of Hardy-Weinberg Law for genetic equilibrium

iv. No migration

That cause gene ow due to immigration into or

emigration out from the population

Population

Move into Move out

Learning Outcomes :
5.2 b) Explain ve assumptions of Hardy-Weinberg Law for genetic equilibrium

v. No natural selection

No individuals will have a reproductive

advantage over another individual

All individuals have the same potential to

reproduce sexually
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Calculation of Allele and Genotype Frequencies

It is possible to calculate:

Allele frequency
Genotype frequency
Dominant phenotype frequency
Recessive phenotype frequency

using the expressions :

Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

allele frequency p+q=1

genotype frequency p2 + 2pq + q2 = 1

dominant phenotype frequency p2 + 2pq

recessive phenotype frequency q2

For each individual of dominant phenotype, it must have at

least one dominant allele (AA or Aa)

and for each individual of recessive phenotype, all of it

alleles must be recessive or aa.
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Example:
The allele y occurs with a frequency of 0.8 in a population
of clams. Give the frequencies of the genotypes YY, Yy and
yy. Show your calculation.

Frequency of allele y = q = 0.8

Use the equation p + q = 1 to get p,

So,
p=1-q
= 1 0.8
= 0.2
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Now, use the other equation to get the genotype

frequencies

p2 +2pq+q2 = 1
Dominant p2 = (0.2)2
homozygous = 0.04

Heterozygous 2pq = 2(0.2)(0.8)

=0.32

Recessive q2 = (0.8)2
homozygous = 0.64
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Question 1

In a population of 500 wildowers, 20 are white owers or

having recessive phenotype and the rest have dominant
phenotype.
If the alleles involved are A and a and there are 320 AA
plants and 160 Aa plants, what are the genotype frequency
of Aa individuals, frequency of dominant phenotype and
frequency of recessive phenotype individuals ?
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Solution
What are the genotype frequency of
Aa individuals, frequency of
dominant phenotype and frequency
of recessive phenotype individuals?
o 2pq A a
o p2 +2pq (p) (q)
o q2 A AA ~ 320 Aa ~ 80
(p) p2 pq
a Aa ~ 80 aa ~ 20
(q) pq q2
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Recessive allele frequency, q

q2 = 20/500
= 0.04
q = 0.2

Using Hardy-Weinberg equation : p+q=1

p=1q
= 1 0.2
= 0.8

So, 2pq = 2(0.8)(0.2)

= 0.32 Genotype frequency of Aa individuals
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Frequency of AA genotype, p2 = (0.8)2

= 0.64

Frequency of Aa genotype, 2pq = 2 (0.8)(0.2)

= 0.32

Frequency of dominant phenotype = p2 + 2pq

= 0.64 + 0.32
= 0.96
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Frequency of recessive phenotype, q2 = (0.2)2

= 0.04
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Question 2

Albinism in mice is a recessive allele due to a mutant

gene. In a population of mice, 16% are albino. Assume
that the population in the Hardy-Weinberg equilibrium,
what is the frequency of carrier?

Key:
Carrier is 2pq
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Solution
16% is albino which is recessive, so 0.16 is albino ~ q2
q2 = 0.16
q = 0.4

From p + q = 1
p = 1-p
= 1-0.4
= 0.6

So, frequency of the carrier, 2pq

= 2 (0.6)(0.4)
= 0.48
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Question 3
Of 400 people who dwell on a Pacic island, 16 are
homozygous recessive for a trait that has only two
different types of alleles in the population. The number of
heterozygous people is.

16 individuals with recessive trait

Two different types of alleles ~ diploid organism
Heterozygous people ~ 2pq
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Solution
q2 = 16/400
= 0.04
q = 0.2

p+q=1
p=1-q
= 0.8

Number of heterozygous people in the population

= 2pq x 400 people
= 2(0.8)(0.2) x 400 people
= 0.32 x 400 people
= 128 people
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Question 4

If the frequency of the recessive allele is 30%, the

frequency of the heterozygous carrier would be what
percent?

Key:
Carrier is 2pq
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Solution
Frequency of recessive allele, q = 0.3
p+q=1
So, p = 1 - 0.3
= 0.7
Heterozygous carrier, 2pq
= 2pq x 100
= 2 (0.3)(0.7) x 100
= 0.42

Percentage of carrier = 0.42 x 100%

= 42%
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Question 5

The gene for albinism is known to be a recessive allele. In

Michigan, 9 people in a sample of 10,000 were found to
have albino phenotypes. The other 9,991 had skin
pigmentation normal for their ethnic group.
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

a.Assuming Hardy-Weinberg equilibrium, what is the allele

frequency for the dominant pigmentation in this population?

b.How many out of the 10,000 people in the sample above

were expected to be heterozygous for pigmentation?
Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

Solution

a. q2 = 9/10 000
= 0.0009
q = 0.03

p+q =1
p =1-q
= 1-0.03
= 0.97

Allele frequency for the dominant pigmentation, p = 0.97

Learning Outcomes :
5.2 c) Calculate allele and genotype frequencies

b. Heterozygous people for pigmentation

= 2pq x 10 000 people
= 2 (0.97)(0.03) x 10 000 people
= 0.0582 x 10 000 people
= 582 people
 PSPM I 2011/2012

Thalassemia is an inherited autosomal recessive blood disease in human.

Thalassemia major is a severe form of anaemia due to homozygous recessive
condition, while thalassemia minor is a mild form of anaemia shown in
individuals with heterozygous genotype. In a population of 12,750, two
individuals are suffering from thalassemia major.

a) Determine the frequencies of the dominant and recessive alleles in the

population. (Calculate up to ve decimal places). [5 marks]
b) How many of the individuals would be suffering from thalassemia minor in
the population? [2 marks]
c) If 1,000 normal individuals migrated out of the population, what would be the
new frequencies of the dominant and recessive alleles?
[3 marks]

 Answer
a) p2 + 2pq + q2 = 1 and p+q=1
p = frequency of dominant allele // q = frequency of recessive allele

q2 = 2 __
12750
= 0.00016

q = 0.00016
= 0.01265

p =1q
= 1 0.01265
= 0.98735
 Answer
b) 2pq = 2(0.98735)(0.01265)
= 0.02498

Number of individuals suffering from T minor

= 0.02498 X 12750
= 318 individuals

 Answer
c) q2 = 2_____
12750 -1000

q = 0.00017
= 0.01304

p = 1 0.01304
= 0.98696
 Conclusion
Hardy-Weinberg Law In equilibrium, the frequency of alleles
and genotypes in a population remain
constant from generation to generation
under certain conditions.

Five Assumptions of i. Large population size

Hardy-Weinberg Law ii. Random fertilization / random
mating
iii. No mutation
iv. No migration
v. No natural selection
Hardy-Weinberg equation p + q = 1 (allele frequency)

p2 + 2pq + q2 = 1 (genotype frequency)

 Reference

Campbell
11th ed ;
Five Assumptions of Hardy-Weinberg Law & Hardy-
Weinberg equation
Page : 544 - 546