Mendelian and Population

Genetics
 Introduction
Gregor Johann Mandel , known as Father of Genetics, Postulated
the principles of inheritance which are popularly known as
Mendel’s laws(1856).
Individual traits are inherited as discrete factors which retain their
physical identity in a hybrid.
Later these factors came to be known as genes.
The term was coined by Danish botanist Wilhelm Johannsen in
1909.
A gene is the basic physical and functional unit of heredity.
Gregor Mendel first recognized that
characteristics are passed from parents
to offspring in packets of information that
we now term genes.
The characteristics of an organism are described
as character or traits.

Mendel studied clear-cut and discrete characters

in Pisum sativum.

Such clear-cut and discrete characters are called

Mendelian characters.
 What is an allele?
 He determined that genes come in alternative forms(alleles)
that result in variation among genotypes and phenotypes and
differences between homozygous and heterozygous genotypes.

 Some alleles in a population are dominant, and the alleles that

they suppress are termed recessive.

 The proportion of gametes carrying alleles A (dominant) and

a(recessive) is determined by the individual genotypes.

 The proportions are termed the genotype frequencies.

 Homozygous vs. Heterozygous
1. Homozygous- two identical alleles for a trait
a. Homozygous dominant- 2 dominant alleles for a
trait(TT)
b. Homozygous recessive- 2 recessive alleles for a
trait(tt)

2. Heterozygous- one of each allele for a particular

trait
 Genotype and Phenotype

The genotype is defined as the genetic

constitution of an individual for any particular
trait.
e.g; TT,tt,Tt
Phenotype is the physical appearance of an
individual for any particular trait.
The phenotype of an individual is dependent on
its genetic constitution.
• Population genetics is the study of changes in the
frequencies of genes and genotypes within a population.

• Natural selection is an evolutionary process by which the

frequencies of genetic traits in a population change as a result
of the differential survival and reproductive success of the
individuals bearing those traits.

• The historical record of life on earth documents that attributes

and traits of organisms, population, and species change over
time. This process is termed as evolution.
• Population genetics and natural selection underpin the area of
study frequently termed evolutionary biology or evolutionary
ecology.
• Natural selection, expressed by changes in genotypic and
phenotypic frequencies in populations, is a mechanism of
adaptation to the environment.
• The basis of adaptation to the local environment is the genetic
variation of individuals in the population.
• Major sources of genetic variation are the reproductive
recombination of genes and inheritable mutations in the gene
or chromosome.
• Natural selection, acting on this genetic variation, results in the
increased fitness within the natural environment.

• Charles Darwin (1859) was the first person to document that

the process of natural selection allows population to respond
to changes in the environment.

• Population genetics helps to explain how populations, and

consequently communities and ecosystems, undergo
evolutionary change.
 What is genetic diversity?

• The variability within a species due to

differences in alleles.
Two factors that influence genetic
diversity are:

• The founder effect

• Genetic bottlenecks
The Founder Effect
• Occurs when a few individuals
from a population colonise a
new region.

• Only a small fraction of the

alleles are carried with them.

• The new population that

develops will show less
genetic diversity than the
original population.

• E.g. The Amish Population.

Genetic Bottlenecks
• Populations may suffer a dramatic
drop in numbers.

• This could be due to a chance

event, such as a volcanic eruption,
earthquake, flood, fires etc

• The few survivors will contain a

much smaller variety of alleles than
the original population.

• The genetic diversity of the new

population will remain restricted.

• E.g. Cheetahs
Genetic/Population Bottleneck contd..
• A population bottleneck is an event that drastically reduces the
size of a population.

• The population bottleneck produces a decrease in the gene

pool of the population because many alleles, or gene variants,
that were present in the original population are lost.

• Following a population bottleneck, the remaining population

faces a higher level of genetic drift because of its smaller size
and the consequences as stated before.
 Hardy-Weinberg equilibrium
• The Hardy-Weinberg equilibrium is a principle stating that the
genetic variation in a population will remain constant from one
generation to the next in the absence of disturbing factors.
• When mating is random in a large population with no
disruptive circumstances, the law predicts that both genotype
and allele frequencies will remain constant because they are in
equilibrium.
• The Hardy-Weinberg equilibrium law helps to identify
evolutionary or environmental factors that can change gene
frequencies in populations.
 Hardy-Weinberg equation
• The Hardy-Weinberg equation is a mathematical equation that
can be used to calculate the genetic variation of a population
at equilibrium.
• In 1908, G. H. Hardy and Wilhelm Weinberg independently
described a basic principle of population genetics, which is now
named the Hardy-Weinberg equation.
• The equation is an expression of the principle known as Hardy-
Weinberg equilibrium.
Contd..
To explore the Hardy-Weinberg equation, we can examine a
simple genetic locus at which there are two alleles, A and a. The
Hardy-Weinberg equation is expressed as:

p2 + 2pq + q2 = 1
The sum of the allele frequencies for all the alleles at the locus
must be 1, so p + q = 1.
If the p and q allele frequencies are known, then the frequencies
of the three genotypes may be calculated using the Hardy-
Weinberg equation.
Contd..

Where,
p2= the frequency of the homozygous individuals(AA),
q2= the frequency of homozygous individuals (aa)
2pq= the frequency of heterozygous individuals(Aa)

In population genetics studies, the Hardy-Weinberg equation can

be used to measure whether the observed genotype frequencies
in a population differ from the frequencies predicted by the
equation.
Disturbing factors
The Hardy-Weinberg equilibrium can be disturbed by a number
of forces:
i. Mutations
ii. natural selection
iii. nonrandom mating
iv. genetic drift
v. gene flow.
Contd..
Mutations disrupt the equilibrium of allele frequencies by
introducing new alleles into a population.
Natural selection and nonrandom mating disrupt the Hardy-
Weinberg equilibrium because they result in changes in gene
frequencies.
This occurs because certain alleles help or harm the reproductive success of the
organisms that carry them.
Genetic drift occurs when allele frequencies grow higher or lower
by chance and typically takes place in small populations.
Gene flow occurs when breeding between two populations
transfers new alleles into a population.
 Genetic Drift
• Changes in allele frequencies due to random variation in allele
frequencies in a population over time is termed genetic drift.
• Genetic drift reduces genetic variation in populations by
increasing the frequency of some alleles and by reducing the
frequency of other alleles.
• Genetic drift has more pronounced effects in small populations
where infrequently occurring alleles face a greater chance of
being lost.
• Population geneticists use the term effective population size(Ne)
to describe the effects of numbers on drift.
 Once it begins, genetic drift will continue until the involved allele is
either lost by a population or until it is the only allele present in a
population at a particular locus.

 Both possibilities decrease the genetic diversity of a population.

 Genetic drift is common after population bottlenecks, which are events

that drastically decrease the size of a population.

 In these cases, genetic drift can result in the loss of rare alleles and
decrease the gene pool.

 Genetic drift can cause a new population to be genetically distinct

from its original population, which has led to the hypothesis that
genetic drift plays a role in the evolution of new species.
Random genetic drift causes random changes in allele
frequencies over time.

It does not generally cause deviations from HW

equilibrium, as does inbreeding.

So the main effect of drift is changes in allele

frequencies.
 Gene Flow
• Also called migration — is any movement of individuals,
and/or the genetic material they carry, from one population
to another.
• Gene flow includes lots of different kinds of events, such as
pollen being blown to a new destination or people moving to
new cities or countries.
• If gene versions are carried to a population where those gene
versions previously did not exist, gene flow can be a very
important source of genetic variation.
• Maintained gene flow between two populations can also lead
to a combination of the two gene pools, reducing the genetic
variation between the two groups.

• Gene flow strongly acts against speciation, by recombining the

gene pools of the groups, and thus, repairing the developing
differences in genetic variation that would have led to full
speciation and creation of daughter species.
In general, the effect of gene flow is to equalize allele
frequencies among populations that exchange migrants, even if
these populations have different allele frequencies because
they are adapted to different environments.

So migration can work against selection, and lead to non-

optimal allele frequencies.

Migration, like random genetic drift, can lead to non-adaptive

evolution.

For example, DDT resistance may evolve in a single population

of insect pest that is exposed to DDT. The alleles conferring this
resistance can then spread to other populations (even
populations that have not yet been exposed to DDT) by gene
flow.
Contd..
The simplest type of gene flow takes place when an allele enters
a population from an outside source.

An island model of migration occurs when smaller, isolated

populations (as might occur on islands) receives migrants from a
large (continental) population. In this scenario, gene flow occurs
in only one direction.