Lecture 1

BIOLOGI POPULASI
SHES1203
DrSAR
Terms used in this course:
a) Population

a group of individuals belonging to the same species that

breed among themselves and function as one unit
inhabiting the same area at the same time.

b) Gene pool

all the genes in all the individuals in an interbreeding

population.

c) Gene

a heritable factor that controls a specific characteristic.

d) Genome

the whole of the genetic information of an organism.

e) Chromosome dark-staining structures in which the organisms genetic

material (DNA) is organized. Each species has
characteristic number of chromosomes.

f) Genotype

an individuals genetic make-up i.e. the alleles possessed

by an organism.

g) Phenotype

an individuals observable characteristics that are the

expression of its genotype i.e. the characteristics of an
organism.

h) Allele

alternative versions of a gene at a particular site, or locus

on the chromosome, i.e. an allele is a form of a gene
differing from other alleles of the gene by a few bases
and occupying the same locus as the other alleles of the
gene.

i) Locus

the chromosomal location of a gene.

Population genetics
1

A population is a group of organism of the same species usually found in a clearly

geographical area.
The term genetics was first introduced by Bateson (1905). He described genetics
as:
the elucidation of the phenomena of hereditary and variation
Genes acting independently or in conjunction with environmental factors,
determines the phenotypic characteristics of organisms and produce variation within
population.
Phenotypes adapted to the environmental conditions are selected for,
-

nonadaptive phenotypes are selected against and eventually eliminated.

Natural selection operating on the phenotypic characteristics of individual organism

determines the fate of its genotype
-

It is the collective genetic response of the whole population that

determines not only the survival of the species but also the formation of
new species.

Only those organisms which successfully reproduce before dying

contribute to the future of the species.

Gene pool
A gene pool is the total variety of genes and alleles present in a sexually reproducing
population.
-

In any given population the composition of the gene pool may be

constantly changing from generation to generation

New combinations of gene produce unique genotypes.

-

When these new combinations are expressed in physical terms as

phenotypes, undergo environmental selection pressures which continually
select and determine which genes pass on to the next generation.

A population whose gene pool shows constant change from generation to generation
is undergoing evolutionary change.
A static gene pool represents a situation where genetic variation between members
of the species is inadequate to bring about evolutionary change.

Allele frequency
2

The appearance of any physical characteristic is determined by one or more genes.

Several forms of each gene may exist and these are called alleles.
The number of organisms in a population carrying a particular allele determines the
allele frequency.
E.g. In humans the frequency of the dominant allele for the production of
pigment in the skin, hair and eyes is 99%.
The recessive allele, which is responsible for the lack of pigment, a
condition known as albinism has a frequency of 1%.
It is usual in population genetic studies to represent gene or allele frequencies as
decimals rather than percentages or fractions.
Hence this dominant allele frequency is 0.99
-

Since the total population represents 100% or 1.0, it can be seen that:

dominant allele frequency

0.99

+
+

recessive allele frequency = 1

0.01
= 1

In terms of Mendelian genetics the dominant allele would be represented by a letter,

say N (for normal pigmentation), and the recessive allele would be represented by n
(the albino condition).
In the example above, N = 0.99 and n = 0.01
Population genetics has borrowed two symbols from the mathematics of probability,
p and q to express the frequency with which a pair of dominant and recessive
alleles appears in the gene pool of the population.
Therefore,
p+q=1
Where p = dominant allele frequency, and
q = recessive allele frequency
In the case of pigmentation in humans, p = 0.99 and q = 0.01,
Since

p + q

=1

0.99 + 0.01 = 1
The value of the above equation lies in the fact that if the frequency of either allele is
known, the frequency of the other may be determined.
E.g. If the frequency of the recessive allele is 25% then q = 25% or 0.25
3

Since

p+q =1
p + 0.25 = 1
p = 1 0.25
= 0.75
That is, the frequency of the dominant allele is 0.75 or 75%.

Genotype frequencies
The frequencies of particular alleles in the gene pool are important in calculating
genetic changes in the population and in determining the frequency of genotypes.
Since the genotype of an organism is the major factor determining its phenotype,
calculations of genotype frequency are used in predicting possible outcomes of
particular matings or crosses.
-

This has great significance in horticulture, agriculture and medicine.

G.H. Hardy (an English mathematician) and W. Weinberg (a German physician)

developed the mathematical relationship between the frequencies of alleles and
genotypes in populations independently in 1908.
-

the relationship is known as the Hardy-Weinberg equilibrium

It is based upon a principle which states that :

The frequency of dominant and recessive alleles in a population will
remain constant from generation to generation provided certain
conditions exist.
These conditions are:
1. The population is large
2. Mating is random
3. No mutation occurs
4. All genotypes are equally fertile, so that no selection occurs
5. Generations do not overlap
6. There is no emigration or immigration from or into the population, i.e. there is
no gene flow between populations.
Any changes in allele or genotype frequencies must therefore result from the
introduction of one or more of the conditions above.

These are the factors that are significant in producing evolutionary change, and
when changes occur the hardy-Weinberg equation provides a means of studying the
changes and of measuring its rate.
The conditions above are probably never met in a natural population; the HardyWeinberg principle nonetheless forms a basis for the study of gene frequencies.
To understand the principle, consider a gene which has a dominant allele A and a
recessive allele a
Let

p = the frequency of allele A and

q = the frequency of allele a

In diploid individuals these alleles occur in the combinations given below:

1st allele

2nd allele

Frequency

p x p = p2

pxq
= 2pq

qxp

q x q = q2

As the homozygous dominant (AA) combination is of the total possible genotypes,

there is a (25%) chance of a single individual being of this type.
Similarly, the chances of being homozygous recessive (aa) is (25%) whereas there
is a (50%) chance of it being heterozygous.
There is a 1/1(100%) chance of it being any one of these three types.

In other words:
Homozygous dominant (1/4)
+
5

Heterozygous (1/2)
+
Homozygous recessive (1/4)

1.0(100%)

Thus,
AA + 2Aa + aa = 1.0 (100%)
And
p2 + 2pq + q2 = 1.0 (100%)
The Hardy-Weinberg principle is expressed as:
p2 + 2pq + q2 = 1.0
(where p and q represent the respective frequencies of the dominant and recessive
alleles of any particular gene).
The formula can be used to calculate the frequency of any allele in the population.
E.g. imagine that a particular mental defect is the result of a recessive gene. If
the number of babies born with the defect is one in 25,000 the frequency of the allele
can be calculated as follows:
The defect will only express itself in individuals who are homozygous recessive.
Therefore the frequency of these individuals (q 2) = 1/25000 or 0.00004
The frequency of the allele (q) is therefore
=

0.00004

0.0063

As the frequency of both alleles must be 1.0, i.e. p + q = 1, then the frequency of the
dominant allele (p) can be calculated as below:
p + q = 1.0
p = 1.0 q
p = 1.0 0.0063
= 0.9937
The frequency of heterozygotes can now be calculated.
From the Hardy-Weinberg formula, the frequency of heterozygotes is:
6

2pq i.e. 2 x 0.9937 x 0.0063

= 0.0125
In other words, 125 in 10,000 (or 313 in 25,000) are carriers (heterozygotes) for the
gene.
This means that in a population of 25,000 individuals, just one individual will suffer
the defect but around 313 will carry the gene.
The heterozygotes are acting as a reservoir of the gene, maintaining it in the gene
pool.
As these heterozygotes are normal, they are not specifically selected against, and so
the gene remains.
Even if the defective individuals are selectively removed, the frequency of the gene
will hardly be affected.
In our population of 25,000 there is one individual who has two recessive alleles and
313 with one recessive allele a total of 315.
The removal of the defective individual will reduce the number of alleles in the
population by just 2, to 313.
Even with the removal of all defective individuals it would take thousands of years to
halve the gene frequency.