TUTORIAL I

P O P U L AT I O N G E N E T I C S &
M U TAT I O N

Biology 4

presented by
NURULAIN HANNANI | FIRDAUS ZULKIFLI | AMIRUL HAKIM
Q1
Population Why does Hardy-Weinberg need large population?
Genetics
 LARGE
POPULATION
SIZE
Allele frequencies in a small population are
more likely to change by random fluctuations
(i.e., by genetic drift) than are allele frequencies
in a large population.

But in nature, the allele and genotype frequencies

of a population often do change over time.

Such changes can occur when at least one of the

conditions for Hardy-Weinberg equilibrium is not met.
Although departure
from the 5 main conditions is common—
resulting in evolutionary change—it is also
common for natural populations to be in
Hardy-Weinberg equilibrium for specific
genes.
 BIN
ANALOGY!
GENETIC DRIFT?
 HOW ?
• One way this can happen is if selection alters
allele frequencies at some loci but not others.

• Some populations also evolve so slowly that

the changes in their allele and genotype
frequencies are difficult to distinguish from
those predicted for a non-evolving
population.
WHAT DOES
HARDY-W INBERG
QUATION

RELATE TO?
HARDY-WEINBERG
PRINCIPLE
describes the unchanging frequency of alleles and
genotypes in a stable, idealized population.
 RELATED TO

EVOLUTION
• One way to assess whether natural selection or other factors are
causing evolution at a particular locus is to determine what the
genetic makeup of a population would be if it were not evolving at
that locus.

• We can then compare that scenario with the data we actually

observed for the population.

• If there are no differences, we can conclude that the population is

not evolving.

• If there are differences, this suggests that the population may be

evolving—and then we can try to figure out why.
An allele that is totally absent from the population has a frequency of
zero.

If all the alleles of a given locus are the same in the population, the
frequency of that allele is 1. Because only two alleles, A and a, exist at
the locus in our example, the sum of their frequencies must equal 1.

If we let p represent the frequency of the dominant (A) allele in the

population and q the frequency of the recessive (a) allele, we can
summarize their relationship with a simple binomial equation

p + q = 1.0
 Parent Generation
p + q = 1.0
p = frequency of dominant allele A
q = frequency of recessive allele a
In diploid organisms, alleles
occur in pairs!
Thus, genotype and allele
frequency for a population that
has reached genetic equilibrium
can be calculated using Punnet
square.
Offspring Generation
Using Punnet square to derive,
In HWE A (p)
A (p)
AA (p2)
a (q)
Aa (pq)
a (q) Aa (pq) aa (q2)
Total frequencies of alleles
of a gene is 100% or 1
Total genotype frequency:
The sum of genotype p2 + 2pq + q2 = 1.0
frequencies of the parent
and the next generation are p2 = frequency for genotype AA
identical (1.0).
2pq = frequency for genotype Aa
q2 = frequency for genotype aa
In Arizona,
It was found that
26 of 6000 people were albino.

“ By using this example, show how the genotype frequencies of

the population can be determined.
Assume that the population was in genetic equilibrium.
 AA

𝒑𝟐 = homozygous dominant genotype frequency / 𝒒𝟐 = homozygous recessive

𝟐𝒑𝒒 = heterozygous genotype frequency genotype frequency
 AA

𝒑𝟐 = homozygous dominant genotype frequency / 𝒒𝟐 = homozygous recessive

𝟐𝒑𝒒 = heterozygous genotype frequency genotype frequency
 26
Genotype frequency of albino aa, 𝑞 2 = 2000 = 0.004
𝒑 = dominant allele frequency
𝒒 = recessive allele frequency
𝒑𝟐 = homozygous dominant genotype frequency Frequency of allele a, 𝑞 = 0.004 = 0.06
𝒒𝟐 = homozygous recessive genotype frequency
𝟐𝒑𝒒 = heterozygous genotype frequency
Frequency of allele A,
𝑝= 1−𝑞
𝑝 = 1 − 0.06
𝑝 = 0.94

According to Hardy-Weinberg equation, Genotype frequency of homozygous

dominant/normal AA,
𝑝2 = (0.94)2
p + q = 1.0 𝑝2 = 0.88

p2 + 2pq + q2 = 1.0 Genotype frequency of heterozygous Aa,

2𝑝𝑞 = 2(0.94)(0.06)
2𝑝𝑞 = 0.12
 Conclusion
In a population that is not evolving, allele and genotype frequencies will remain constant from generation to
generation, provided that only Mendelian segregation and recombination of alleles are at work. Such a
population is said to be in Hardy-Weinberg equilibrium, named for the British mathematician and German
physician, respectively, who independently developed this idea in 1908.

Any population in which the distribution of genotypes conforms to the relation p2 + 2pq + q2 = 1, whatever
the absolute values for p and q may be, is at genetic equilibrium. Such a population, with no net change in
allele or genotype frequencies over time, is not undergoing evolutionary change.

HARDY-WEINBERG EQUILIBRIUM
Thank You
FOR YOUR ATTENTION