POPULATION GENETICS:

Introduction
• The field of Genetics is broadly divided into:
(1) Classical genetics: It deals with the transmission of
genes between individuals
(2) Molecular genetics: It is the study of genetic
materials at DNA level
(3) Population genetics: Population genetics studies
heredity in groups of individuals for traits that are
determined by one or only a few genes. Therefore,
the unit of study is the population.
• A population is a group of individuals that exist in
time and space and can interbreed.
 Population
• Group of
organisms that
can interbreed
to produce fertile
offspring
• Gene pool – total
alleles in a
population
• Population Genetics describes how genetic
transmission happens between a population of
parents and of offspring.

• As individuals differ genetically so one

population may differ from another for specific
attributes (traits)

• Such attributes include frequency of

genotypes (genotypic freq.) and frequency
of allele (allelic freq.) of the popns being
compared.
Definition of some terms:

▪ Population: A freely interbreeding group of individuals.

▪ Gene Pool: The sum total of genetic information present in a
population at any given point in time.
▪ Phenotype: A morphological, physiological, biochemical, or
behavioral characteristic of an individual organism.
▪ Genotype: The genetic constitution of an individual organism.
▪ Locus: A site on a chromosome, or the gene that occupies the site.
▪ Gene: A nucleic acid sequence that encodes a product with a distinct
function in the organism.
▪ Allele: A particular form of a gene.
▪ Gene (Allele) Frequency: The relative proportion of a particular
allele at a single locus in a population (a number between 0 and 1).
▪ Genotype Frequency: The relative proportion of a particular
genotype in a population (a number between 0 and 1).
The “rediscovery” of Mendel’s genetic
studies in 1902 by William Bateson
completed the missing model for the
inheritance of genetic factors.

Gregor Mendel

▪ Mendel published his work in the

Transactions of the Brunn Society
of Natural History in 1866.
 Mendel’s Laws:

▪ Segregation
▪ Independent assortment
 Genetic structure of a population
▪ This is to determine the genotypic and allelic
frequencies of a population

▪ To determine the proportions of genotypes in a di-allelic

system, the genotypes must be distinguishable.

▪ The alleles of genotypes are either dominant (AA, Aa)

or recessive (aa)

▪ Dominant alleles could express phenotypically in three

forms: (i) Complete dominance, (ii) incomplete
dominance, and (iii) co-dominance
 Types of dominance of alleles
▪ Complete dominance is when the dominant allele (A)
completely masks the effect of the recessive allele (a) in
a heterozygous condition (Aa)

▪ Incomplete dominance: It occurs when there is a

relationship between the two alleles in a heterozygous
(Aa) form in which neither is dominant over the other. E.g
the cross between the red flower plant (RR) and white
flower plant (rr) gave pink flower plant (Rr) at F1

▪ In incomplete dominance, all the genotypes (AA, Aa, aa)

have different phenotypes with the heterozygote’s
phenotype intermediate between the two homozygotes.
Incomplete dominance
 Codominance
▪ Codominance occurs when both the alleles are
dominant and the traits of both alleles express
themselves. E.g. Flower with yellow petals (YY) and red
petals (RR) as dominant alleles will codominate in the
offspring that receives YR allele.
▪ E.g. AB in ABO blood group.
 Calculations of Genotypic and allelic frequencies
Assumptions:

1) Diploid, autosomal locus with 2 alleles: A and a

2) Simple life cycle:

PARENTS GAMETES ZYGOTES

(DIPLIOD) (HAPLOID) (DIPLOID)

These parents produce a large gamete pool (Gene Pool) containing alleles
A and a.

aAAa
aAAaAa a
aAAa aAaAA
a aAAa a a
aAa aAA
AaA
 Genotypic and allelic frequencies
Genotype Frequencies of 3 Possible Zygotes:

AA Aa aa

Genotype Freq = no of indivs. of a given genotype in a popn.

Total no. of genotypes in the population

allele Frequencies:
= No. of copies of a given alleles in a population
Sum of all the alleles in the population

Freq(AA) = p2
Freq (Aa) = 2pq
Freq (aa) = q2

 p2 + 2pq + q2 = 1
Sample Calculation: Genotype Frequencies

Assume N = 200 indiv. in each of two populations 1 & 2

▪ Pop 1 : 90 AA 40 Aa 70 aa
▪ Pop 2 : 45 AA 130 Aa 25 aa

In Pop 1 :
Sample Calculation: Allele/gene Frequencies

Assume N = 200 indiv. in each of two populations 1 & 2

▪ Pop 1 : 90 AA 40 Aa 70 aa
▪ Pop 2 : 45 AA 130 Aa 25 aa

In Pop 1 :
Allele freq.
No. of AA = (2×90) + 40 = 220
No. of aa = (2×70) + 40 = 180
400

F(AA) =220 = 0.55

400
F(aa) = 180 = 0.45
400 1.00
Tutorial question:
(1) The following genotypes were found in a population of goats
AA= 4
AB= 41
BB= 84
AC= 25
BC= 88
CC= 32
Cal: (i) Genotype freq. (ii) Gene freq.

(2) Individuals have the following genotypes for hemoglobin:

AA AS SS AC SC CC
2017 783 4 173 14 11
Cal: (i) Genotype freq. (ii) Gene freq.
 The Hardy-Castle-Weinberg Law

• It states that in a random mating population, the gene

and genotype frequency will be in equilibrium in
subsequent generation in the absence of selection,
mutation, migration and genetic drift.

p2 + 2pq + q2 = 1

Hardy
 Hardy-Weinberg Equilibrium
• Evolution does
NOT occur if the
gene pool remains
constant from one
generation to the
next.
• Outside forces must
act on a population
for there to be
change
 H-W ASSUMPTIONS:

1) Mating is random (with respect to the locus).

2) The population is infinitely large. (no sampling error –

Random Genetic Drift)

3) Genes are not added from outside the population (no

gene flow or migration).

4) Genes do not change from one allelic state to another

(no mutation).

5) All individuals have equal probabilities of survival and

reproduction (no selection).
 IMPLICATIONS OF THE H-W PRINCIPLE:

1) A random mating population with no external forces

acting on it will reach the equilibrium H-W frequencies
in a single generation, and these frequencies remain
constant there after.

2) Any perturbation of the gene frequencies leads to a

new equilibrium after random mating.

3) The amount of heterozygosity is maximized when the

gene frequencies are intermediate.

2pq has a maximum value of 0.5 when

p = q = 0.5
GENOTYPE VERSUS GENE FREQUENCIES

p2 (AA) q2 (aa)

2pq (Aa)
 FOUR PRIMARY USES OF THE H-W PRINCIPLE:

1) Enables us to compute genotype frequencies from

generation to generation, even with selection.

2) Serves as a null model in tests for natural selection,

nonrandom mating, etc., by comparing observed to
expected genotype frequencies.

3) Forensic analysis.

4) Expected heterozygosity provides a useful means of

summarizing the molecular genetic diversity in natural
populations.
 Violations to H-W Equilibrium –
• Mutations
cause evolution
• Small populations – genetic drift
• Non random mating
• Natural Selection
• Migration – gene flow
 1. Mutations
• Change in DNA’s nucleotide sequence.
• Raw source for new genes and alleles
• Most mutations are somatic cell mutations and do
not affect offspring
• Only gametic mutations affect a gene pool.
• Mutation rates
– Lower in organisms with a longer generation span
• Plants and animals – 1/100000 genes
– Higher in organisms with a shorter generation span
• Bacteria and viruses
 1. Mutations
• Point Mutations – alter
one nucleotide base only
– Usually neutral
– Sickle cell anemia
• Chromosomal Mutations
– alter many regions or loci
of the entire chromosome
– Gene duplication
• Usually harmful, but when
beneficial act as an important
source of variation in a
population
 2. Nonrandom Mating – sexual
selection
• Creates sexual recombination – joining of
different alleles in a gene pool
– Huge source of variation in a population
• Gametes from different organisms
contribute different alleles to the next
generation.
 3. Natural Selection
• Differential success in reproduction based on
variation in a population.
• Better suited organisms in an environment tend to
produce more offspring than less suited organisms.
– Fitness
• Types
– Directional
– Disruptive
– stabilizing
– Sexual
– Artificial
Types of Selection
• 1. Disruptive – extreme
phenotypes are favored and
the average is selected
against
• 2. Directional – One
extreme phenotype only is
favored
• 3. Stabilizing – Average
individuals are selected for
and extremes are selected
against.
 Types of Selection
• 4. Sexual Selection – mating selection
– Intrasexual – within the same sex
• Ex: males competing
– Intersexual – between the sexes
• Ex: Females choosing the males
• 5. Artificial Selection - Modification of
species due to selective breeding to produce
organisms with desired traits
– Ex: pets
 4. Genetic Drift
• Random fluctuation of allele frequencies from one
generation to the next.
• Greater occurrence in smaller populations b/c one
organism who is homozygous recessive breeding more
than expected can create a large increase in the frequency
of the recessive allele, if the pop is small
CRCR CRCR CWCW CRCR CRCR

CRCW Only 5 of CRCW Only 2 of CRCR CRCR

10 plants 10 plants
leave leave
CWCW CRCR offspring CWCW offspring CRCR CRCR
CRCR

CRCW CRCW CRCR CRCR

CRCR CRCW CWCW CRCR CRCR

CRCR CRCW CRCW CRCW CRCR CRCR

Generation 2
Generation 1
p = 0.5 Generation 3
p (frequency of CR) = 0.7
q = 0.5 p = 1.0
q (frequency of CW) = 0.3
q = 0.0
Figure 23.7
 4. Genetic Drift
• Bottleneck effect
– Sudden environmental change can drastically reduce the size of a
population – only some survive
• Fire, flood, human influence etc.
– Reduces the genetic variation
in a population

– Ex: An example of a bottleneck:

Northern elephant seals have reduced genetic variation probably because of a
population bottleneck humans inflicted on them in the 1890s. Hunting reduced
their population size to as few as 20 individuals at the end of the 19th century.
Their population has since rebounded to over 30,000—but their genes still carry
the marks of this bottleneck: they have much less genetic variation than a
population of southern elephant seals that was not so intensely hunted.
 4. Genetic Drift
• Founder effect
– Occurs when a few individuals become isolated
from the original population
– The smaller population may not have the same
gene pool as the original and speciation is likely to
occur.
 5. Migration – Gene Flow
• Addition or loss of alleles
to or from a gene pool.
• Caused by the movement
of fertile individuals to or
from a population –
migration, a deer goes to
live with another
population
• Scientists are studying the
effects of cultivated crop’s
(artificially selected crops)
gene flow on wild
populations
 Genetic Variation
• Differences in phenotypes between members of a
population
• Inherited in genotype
• The raw source for natural selection within a
population
• Relative Fitness:
– The # of offspring
An individual passes
To the next generation