By

Dr G. E. Ebito
At the end of this lecture, students are expected to:

 Differentiate between gene & allele.

 Define a gene pool & population.
 State the meaning of allele frequency & explain the
formula for its calculation.
 Describe the “forces of evolution”.
 Mention the assumptions in Hardy-Weinberg
equilibrium.
 A population is a group of organisms of the same
species that are found in the same area and can
interbreed.
 It is the smallest unit that can evolve.
 A gene is the basic unit of hereditary information.
 Allele (allelomorph) is the alternative form of a
gene. A gene may have two or more alleles.
 Allele occurs in pairs at a given site (locus) on a
chromosome, for the expression of a particular
trait (phenotype).
 When the alleles are different, one (dominant allele,
W) may hide the other (recessive allele, w).
 A set of alleles, called its genotype, determines its
phenotype, or observable features.
 Species – groups of Mendelian populations
that are reproductively isolated.
 Evolution – a change in the gene frequencies of a
population across generations.
 Genetic variation – heritable differences
among individuals making up natural
populations.
 Gene pool – the sum total of genetic variation
present in a population or species (a group
that shares the same pool of genetic
information).
 Is the total set of gene copies for all genes in a
population. It consists of all the copies of all the
genes in that population.
 The ability of a population to adapt and evolve is
influenced by the size of its gene pool.
 The more variation a population has, the better its
ability to adapt to changes in its environment
through natural selection.
 A large and diverse gene pool may improve a
population’s chances for future adaptation to
changing environmental conditions.
 Populations with smaller, narrower gene pools,
may be less successful when confronted with swift
environmental change.
 Genetic inheritance is the process in which DNA is
passed from parents to their offspring.
 All genetic traits are made up of a gene; each gene
has two alleles, one from each parent.
 A parents particular genotype determines whether
certain traits are expressed in offspring or not.
 Alleles can be either dominant or recessive, and
dominant alleles have the ability to override
recessive traits.
 If one parent passes a recessive allele and the
other parent passes a dominant allele, both will be
inherited. However, the likelihood of the recessive
trait being expressed is minimal.
 Population genetics describes the genetic
composition of a population, including allele
frequencies, and how allele frequencies are
expected to change over time.
 It is the study of genetic evolution in populations.
 The study of the change of allele frequencies,
genotype frequencies, and phenotype frequencies.
 The field of biology that studies allele frequencies
in populations and how they change over time.
 Population genetics deals with phenotypic
diversity, especially where it is due to differences in
the genotypic composition of individuals.
 Forces that change a population's gene
frequencies are the driving mechanisms behind
evolution.
 “Forces of evolution“ are the factors that disturb
the natural equilibrium of gene frequency, and
cause allele frequencies to change.
 Without change, there cannot be evolution.
 By definition, such populations are not evolving.
 A population of closely related individuals will
show low variability.
 This is especially critical if environmental
conditions change and the population does not
have the variation to cope with the change.
 Such population could rapidly move towards
extinction.
 Allele or gene frequency is the relative
frequency of an allele at a particular locus in a
population, expressed as a fraction or
percentage.
 Is defined as the total number of copies of
that allele in the population divided by the
total number of copies of all alleles of the
gene.
 It is the fraction of all chromosomes in the
population that carry that allele.
 May change due to gene flow, genetic drift,
natural selection, mutation and genetic
recombination.
 Allele frequency refers to how frequently a
particular allele appears in a population.
 For instance, if all the alleles in a population of pea
plants were purple alleles, W, the allele frequency
of W would be 100%, or 1.0. However, if half the
alleles were W and half were w, each allele would
have an allele frequency of 50%, or 0.5.

 Frequency of allele A = Number of copies of allele

A in population / Total number of A/a gene copies
in population.
 To find the number of alleles in a given population,
one must look at all the phenotypes present.
 The phenotypes that represent the allele are often
masked by dominant and recessive alleles working
in conjunction.
 To analyze the allele frequency in a population, we
use the Hardy-Weinberg (HW) equation, written as
follows:
 1 = p2 + 2pq + q2
 P and q each represent the allele frequency of
different alleles.
 p2 represents the frequency of the homozygous
dominant genotype, and q2 represents the
frequency of the homozygous recessive genotype.
 Itwould be impossible to count all of the hidden
alleles, but easy to count the number of recessive
phenotypes in a population.
 Recessive phenotypes are caused by two recessive
alleles.
 Therefore, q2 can be easily observed by dividing
the total number of recessive phenotypes by the
total number of individuals. Let’s look at an
example of how we can use this information to
calculate the allele frequency of any given allele.
Assignment:-
 Ina population of 630 animals we count 375
animals with the genotype Z/Z, 218 with the
genotype Z/z and 37 with the genotype z/z.
 In a population of animals we can calculate the
allele frequencies and the genotype frequencies for
a monogenic trait.
 This is of value when you have an animal with
known alleles for a certain monogenic trait and you
want to calculate the chance for finding another
animal (for mating) with a desired genotype for this
trait.
 Suppose a monogenic trait has two alleles Z and z.
 Then animals will have one out of the three
genotypes possible: Z/Z, Z/z or z/z.
 Evolution is the genetic changes within a group of
species that happen over generations using various
processes such as natural selection.
 Allele frequency is the visualization and evidence
that evolution is taking place.
 By calculating allele frequency throughout several
generations, it is possible to see how groups of
species change over time.
 Microevolution is a rapid form of evolution that
occurs in a short amount of time, sometimes these
changes can be seen from one generation to the
next.
 Mutation: changes in DNA
 Migration: an influx of new individuals to the population

 Natural Selection: most fit organisms survive to pass on

their DNA through offspring
 Genetic drift: random chance an allele is not passed to
offspring

 The synthetic theory of evolution is the study of evolution

in relation to gene frequency, which produces new
species.
 This theorem analyzes changes in a species population
that happens via the evolutionary processes and
proposes that however evolution happens, that variation
will occur.
 Once variation occurs, the fittest organism will then
thrive.
Mutation Genetic Drift Selection

Gene Flow Non-random mating

 Creates variation.
 Changes DNA sequence, aa sequence, and proteins.
 Creates new genetic variation in a gene pool (This is
how all new alleles 1st arise).
 In sexually reproducing species, the mutations
occurring in gametes are necessary for evolution (only
these mutations can be passed to offspring).
 For any given gene, the chance of a mutation occurring
in a given gamete is very low. Thus, mutations alone
do not have much effect on allele frequencies.
 New mutations change gene frequencies very slowly,
because mutation rates are low.
 Mutations provide the genetic variation needed for
other forces of evolution to act.
 Is a random change in allele frequencies that
occurs in a small population.
 When a small number of parents produce just a few
offspring, allele frequencies in the offspring may
differ, by chance, from allele frequencies in the
parents.
 In a small population, different allele frequencies
may occur, by chance, than expected in the next
generation. In this way, allele frequencies may drift
over time.
 There are two special conditions under which
genetic drift occurs. They are called bottleneck
effect and founder effect.
 Bottleneck effect
 Occurs when a population suddenly gets much
smaller. This might happen because of a natural
disaster such as a forest fire. By chance, allele
frequencies of the survivors may be different from
those of the original population.
 Founder Effects
 Occurs when a few individuals start a new
population. By chance, allele frequencies of the
founders may be different from allele frequencies
of the population they left.

 Establishmentof a population by a few individuals

can profoundly affect genetic variation
Consequences of Founder effects
 Fewer alleles
 Fixed alleles
 Modified allele frequencies compared to source pop
 Perhaps due to “new environment”
 Occurs when individuals move into or out of a
population.
 Movement of individuals and their alleles in & out of
populations.
 Causes genetic mixing across regions
◦ Seed & pollen distribution by wind & insect
◦ Migration of animals
sub-populations may have different allele frequencies
reduce differences between populations
 If the rate of migration is high, this can have a significant
effect on allele frequencies. The allele frequencies of
both the population they leave and the population they
enter may change.
 Gene flow in human populations is increasing today
◦ transferring alleles between populations
 Sexualselection
 Organisms may prefer to mate with others of the
same genotype or of different genotypes.
 Variation is the raw material for natural selection
there have to be differences within population
some individuals must be more fit than others
 Survival & reproduction due to changing environmental
conditions:
climate change
food source availability
predators, parasites, diseases
toxins
Combinations of alleles that provide “fitness” increase
in the population
adaptive evolutionary change
 Fitness
◦ Survival & Reproductive success
◦ individuals with one phenotype leave more surviving
offspring
 Selection= variation in fitness; heritable
 Mutation = change in DNA of genes
 Migration = movement of genes across
populations
◦ Vectors = Pollen, Spores
 Recombination = exchange of gene segments
 Non-random Mating = mating between
neighbors rather than by chance
 Random Genetic Drift = if populations are small
enough, by chance, sampling will result in a
different allele frequency from one generation to
the next.
 Hardy-Weinberg equilibrium
If the frequency of one
allele (A) is p and that of the p q
other allele (B) is q,
random mating p p2 pq
is random combining of
gametes, which leads to
q pq q2
(p + q)2 = p2 + 2pq + q2
Freq AA Freq AB Freq BB
Assumptions of Hardy-Weinburg Equilibrium
 Reproduction is sexual (and diploid).
 Mating is random (=panmixis).
 Large population size (no genetic drift).
 Generations are nonoverlapping.
 No migration (gene flow).
 No mutation.
 No natural selection.
 No segregation distortion.
Why is Hardy-Weinburg so important?
 Allelic frequencies are easier to work with than
genotypic frequencies.
 Deviations from HW indicate that other processes
are at work.