Module 5

Basic Population Genetics

At the end of this module you are expected to:
1. Learn the principles of population genetics;
2. Understand the principles of Hardy- Weinberg law;
3. Appreciate the importance of population dynamics in our daily lives.

Population Genetics and Its Importance

Population genetics is a body of theory that allows us to transform knowledge about the
genetics of individuals, families, and lineages; knowledge such as Mendelian inheritance
of alleles, and linkage due to chromosome recombination, plus mutation and natural
selection; into statistical knowledge about the genetics of populations, such as nucleotide
diversity, haplotype block structure, allele frequency distributions, and correlation or
linkage distributions.

In general, population genetics is not interested in what the genes mean or do, only in
how they are distributed in a population. As such, it is a theory about micro-evolution in
action. It is not a theory about macro-evolution, for example how a new design or body
plan could arise from random mutations. It can only describe things like how long it would
take for suitable mutations to occur (spoiler: often a very long time), how many of them
would go extinct (spoiler: the vast majority of them), and how long it would take for suitable
ones to be established (spoiler: an impossibly long time, even for some seemingly trivial
cases).

***Intelligent design (ID) Theory is a pseudoscientific argument for the existence of

God, presented by its proponents as "an evidence-based scientific theory about life's
origins". Proponents claim that "certain features of the universe and of living things are
best explained by an intelligent cause, not an undirected process such as natural
selection." ID is a form of creationism that lacks empirical support and offers no testable
or tenable hypotheses, and is therefore not science.

Additional Insights on Population Genetics

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 • The study of the frequency of genes and genotypes in a
Mendelian population is known as Population Genetics.
• It has been recognized that although the inheritance of
individual genes may be governed by Mendelian principles,
but the frequencies of the individuals carrying these genes
may depend on several factors, which include frequency of
a particular gene, size of population and other factors.
• A population consists of a community of sexually or
potential inbreeding organisms inhabiting in a geographical
area.
• Sewall Wright called these populations as “Mendelian Sewall Wright
populations”.

Mendelian Population

• Defined as an interbreeding group of organisms that share a common gene pool.

• Random mating individuals belong to the same species and same gene pool.
• Gene pool is the sum total of genes in Mendelian population.
• Two features of a Mendelian population:
➢ Random Mating. (Panmictic population)
▪ A panmictic population is one where all individuals are potential
partners.
▪ This assumes that there are no mating restrictions,
neither genetic nor behavioral, upon the population and that
therefore all recombination is possible.
▪ The Wahlund effect assumes that the overall population is
panmictic.
▪ Random mating involves the mating of individuals regardless of any
physical, genetic or social preference.
• In other words, the mating between two organisms is not
influenced by any environmental, hereditary or social
interaction.
• Hence, potential mates have an equal chance of being
selected. Random mating is a factor assumed in the Hardy–
Weinberg principle and is distinct from lack of natural
selection: in viability selection for instance, selection
occurs before mating.

➢ Equal survival of all genotypes.

Gene Frequency

Proportion of different alleles of a gene in a random mating population is referred as gene

frequency. Estimation of gene frequency in a population consists of three important steps:

1. Sampling
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2. Classification
3. Calculation of gene frequency.

Suppose a random sample of 100 individuals

was drawn from a random mating population
of Andalusian Chickens (Gallus gallus). Out
of 100 chickens, 30 were black, 40 were
blue, 30 were white in color.

So, the allele frequency is worked out as

follows:

➢ Black color is homozygous for

dominant allele (BB)
➢ White color is homozygous for
recessive allele (bb)
➢ Each heterozygous individual blue color will have dominant (B) and recessive (b)
alleles in equal number.

1. Number of B alleles in a sample (30 individual)

= 2 (no. of black individuals) + no. of blue individuals
= 2 (30) + 40 = 100

2. Proportion of B alleles in the sample

= no. of BB alleles / 2 (total animals in a sample)
=100 / (2x 100) =0.50

Similarly, no. of b alleles = 2 (30) + 40 = 100; Proportion of r alleles =100 / (2x100)

=0.50. Therefore, the frequency of BB and bb alleles is 0.50 each.

Genotype frequency

Genotypic frequencies at a specific locus can be calculated by counting number of

individuals with particular genotype and divide this number by the total number of
individuals in the populations.

So, from the above sample the genotypic frequency of each individual is calculated as
follows:

1. Frequency of Black (BB) individuals = 30/100 = 0.30

2. Frequency of Blue (Bb) individuals = 40/100 = 0.40
3. Frequency of White (bb) individuals = 30/100 = 0.30

Factors that change the allele frequencies in a population

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1. Selection

➢ The word itself defines ... i.e to select desirable individual which favors
survival and reproduction in a population.
➢ Here, the fittest individual survive and rest are wiped out which is known as
natural selection.

*** Fitness
➢ The relative reproductive success of different genotypes of a population in
the same environment under natural selection.
➢ It is denoted by W.
➢ If W = 1 than 100% survival and vice-versa.
➢ Survival depends on two factors:
o The no. of seeds produced by each genotype.
o The proportions of seeds of each genotype which reaches maturity
and produces offspring.
➢ The value of W ranges between 0 and 1.

2. Mutation

➢ A sudden heritable change in the features of an organism.

➢ The frequency of mutation is extremely low (1x10 -6).
➢ Mutation leads to alterations of gene frequencies in a population.
➢ It may occur in both forward and reverse direction, but the frequency of
forward mutation is higher than reverse mutation.
➢ When mutation is in both the direction the equilibrium condition can be
expressed as follows:

o T mutates to t at a rate u and frequency of T in a population is p.

o t mutates to T at a rate v and frequency of t in a population is q or
(p-1).
o Thus, decrease in T = up and increase in T = v (1-p)
o Therefore, condition of equilibrium will be;
▪ up = v(1-p)
▪ up = v – vp
▪ up + vp = v
▪ p (u + v) = v
▪ p = v/ (u + v)
▪ Similarly, q = u/v + u

3. Migration

➢ It refers to the movement of individuals into a population from a different

population.
➢ Migration may introduce new alleles into the population.

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 ➢ This new alleles after mating with the individuals of original population may
alter gene and genotypic frequencies in a population.
➢ The rate of change in gene frequency, through migration depends on the
number of migrants.

4. Genetic Drift

➢ Random drift or genetic drift refers to random change in gene frequency due
to sampling error.
➢ Large sample size provides true representative value of a population or
value which is nearer to the population mean.
➢ However, random genetic drift is a nondirectional factor because it does not
change the gene frequency in a particular direction.
➢ Causes of genetic drift:
o Small populations
o Founder effect (When
population is initially small)
▪ the reduced genetic
diversity which results
when a population is
descended from a
small number of
colonizing ancestors.

o Bottleneck effect (When

population drastically reduced
to small)
▪ When disaster strikes,
an ecosystem can
change very quickly.
When an event causes a
drastic decrease in
a population, it can cause a type of genetic drift called
a bottleneck effect.
▪ This can be caused by a natural disaster, like an earthquake or
volcano eruption. Today, it is also often caused by humans
through over-hunting, deforestation, and pollution.
▪ When most members of a population die suddenly, genetic
variation goes down and the frequencies at which
different alleles are found in the population can change in a big
way. Remember that alleles are different forms of a
specific gene located in the same place on a chromosome.

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Population Dynamics
A population is a collection of individual organisms of the same species that occupy some
specific area. The term "population dynamics" refers to how the number of individuals in a
population changes over time. Biologists study the factors that affect population dynamics
because they are interested in topics such as conservation of endangered species (for example,
the Florida panther) and management of fish and wildlife. In addition, basic knowledge about the
processes that affect population dynamics can be used to predict future patterns of human
population growth.