Exercise 10

Genes in Population

Individuals owe their genotypes to their parents. However, the totality of an individual
and the genes that will be expressed depend upon factors concerning the population as a whole.
Members of a population share certain characteristics that may be different from those of another
population due to the relative predominance of certain alleles in certain populations. To
understand how the changes in the number of alleles affect a population, and how these changes
affect the population, it is necessary to study population genetics. Population genetics is the study
of heredity in groups of individuals for traits that are determined by one or only a few genes.
This is essential in understanding evolutionary patterns within and among populations.
Population geneticists study the genetic variation, with emphasis on allelic variation, within gene
pools and how such variation changes from one generation to the next.
A population is defined as a group of sexually and potentially interbreeding individuals
sharing a common gene pool. Any form of sterility, whether natural or acquired, excludes an
individual from the population. Individuals who decide not to take part in the breeding process of
the population, whether by choice or circumstance, are also not included in the population.
Moreover, individuals who are not yet biologically capable of interbreeding are not yet part of
the population.
Gene pool refers to all genes present in the reproductive gametes of all members of a
population. Individuals of one generation constitute a gene pool. In turn, individuals that
reproduce contribute to the gene pool of the next generation. Therefore, genes of individuals who
are not members of a population and the genes that are present in sterile gametes of members of
a population are not included in the gene pool.
In population genetics, populations are described by their gene and genotype frequencies.
Gene frequencies refer to the relative proportion of one allele of a gene to all the alleles of the
same gene in the population.

gene frequency = # of a particular allele in a population

total # of all alleles of the same gene in a population

Genotypic frequencies, on the other hand, refer to the relative proportion of a specific
genotype for a gene to all the genotypes for the same # gene of a specific in a population.

genotype frequency = # of a specific genotype in a population

total # of individuals in the population

When genotypic frequencies are available instead of frequencies of individuals, the gene
frequencies can be computed using the set of formulas below. Note that the notation in the
formulas below assume complete dominance between the two alleles of the gene pair.
fdominant allele = fhomozygous dominants + fheterozygotes
2

frecessive allele = fhomozygous recessives + fheterozygotes

2
In a large population, where no external forces that affects the gene and genotypic
frequencies is acting on the population, a genetic equilibrium state is achieved after one
generation of random mating wherein the genotypic frequencies do not change from generation
to generation over time is called Hardy-Weinberg equilibrium. Not only does this equilibrium
state require that the gene frequencies do not change over the course of many generations, but the
gene frequencies of the male and female members of the population should be equal as well.
Let us assume that the frequency of the dominant allele is represented by p, while the
frequency of the recessive allele is represented by q. In any population, the sum of the
frequencies of the alleles of a gene is always equal to one.
p+q=1
However, if a gene is in Hardy-Weinberg equilibrium in a population, the gene
frequencies in both male and female members would be equal.
pmale = pfemale, and qmale = qfemale

If this condition is satisfied, then the mathematical relationship of the genotypic

frequencies can be derived from a cross between males and females in the population as shown
in Table 10.1.

Table 10.1 Derivation of the mathematical relationship of the genotypic frequencies at

equilibrium.

Gene Frequencies
in Gametes ♀ p q
♂
p p2 pq
q pq q2

From the equation above, it is evident that, at equilibrium, the frequencies of the
homozygous genotypes should be equal to the squares of the frequencies of their respective
alleles (e.g. fhomozygous dominant = f 2dominant allele) while the frequency of the heterozygote should be twice
the product of the frequencies of the dominant and recessive allele.
External factors that cause changes in gene/genotype frequencies may either be dispersive
or systematic. Dispersive processes are due to sampling errors in a small population. These are
predictable in amount but not in direction. On the other hand, systematic processes include
selection, mutation and migration. These produce changes in the gene/genotype frequencies that
are predictable both in amount and direction.
Gene mutations may involve the transformation of one allele to its alternative form.
When the mutation is from a dominant to a recessive allele, the mutation is said to be a forward
(recessive) mutation. On the other hand, when the mutation involves a change from a recessive to
a dominant allele, the mutation is a backward (dominant) mutation. These mutations may occur
only once (i.e. non recurrent mutations) or repeatedly in a population (recurrent mutations).
To see the effect of mutations on the gene and genotypic frequencies, let us assign the
initial frequency of a dominant allele A as p 0 and the rate of the forward mutation as u. After one
generation, a number of A alleles equal to up0 would have mutated to a. Hence, the new
frequency (p1) of A will be:
p1 = p0 – up0
After a second generation, the frequency (p2) of A will be:
p2 = p1 – up1
After n generations, the frequency of A will fall to:
pn= p0 (l – u)n
and in time, to zero.

However, in recurrent bidirectional mutations, the frequency of the dominant allele p will
never become zero since dominant alleles that are formed via backward mutations replenishes
dominant alleles that mutated into recessive alleles. Therefore, an equilibrium state may be
achieved wherein the number of dominant alleles that mutates into recessive alleles is equal to
the number of recessive alleles that mutates into dominant alleles. The frequency of the recessive
allele is represented as q and the rate of backward mutation as v.
up = vq
Since p + q = 1, we can derive the equation p = 1 -q. By substitution, we get
u(l - q) = vq
Distributing u, gives us
u – uq = vq
Placing similar terms on the same side of the equation gives
u = uq + vq
Factoring out q leads to
u = q (u + v)
The frequency of the recessive allele at equilibrium can then be solved using
u
q=

u+v

Using the same logic, the frequency of the dominant allele at equilibrium can be
determined using
v
p = u+v

From the equations of the gene frequencies at equilibrium, it can be noted that the new
gene frequencies do not depend on the original gene frequencies but on the rates of forward and
backward mutations.
In selection, the environment exerts a force on certain individuals that prevent them from
mating. This force can be represented by the selection pressure or selection coefficient (s). This
value ranges from 0 to 1. A selection pressure of 0 means that the individual is being selected for
by the environment (i.e. allowed to mate and produce offsprings). On the other hand, a selection
coefficient of 1 signifies that certain individuals are being completely selected against (i.e. not
allowed to mate and produce offsprings). Consequently, the measure of an individual's ability to
reproduce is called its fitness value. The fitness value is derived from the selection coefficient
using the formula below.
w=1–s
Selection may be of two types: either gametic or zygotic selection.
In gametic selection, the environment hinders the participation of gametes with specific
alleles in the mating process. For example, consider gene A. Individuals may have a genotype of
AA, Aa and aa. Suppose that the environment is selecting against the allele a. All gametes that
would have allele a will be prevented from taking part in fertilization. Thus, only the gametes of
AA individuals, and the gametes of Aa individuals carrying the A allele will be involved in
fertilization.
To determine the effect of gametic selection on the gene frequencies, refer to Table 10.2. The
resulting genotypic frequencies can then be derived from the computed gene frequencies.

Table 10.2 Determination of gene frequencies for A and a after 1 generation with the selection
against the allele.

GAMETES TOTAL
A a
f0 p0 q0 1
w 1 1-s
f0 x w �0 𝑥 1 = � 0 �0(1 − 𝑠) = �0 − 𝑠�0 �0 + �0 − 𝑠�0 = 1 − 𝑠�0

f1 �0 �0 − 𝑠�0 1
�1 =
1 − 𝑠�0 �1 =
1 − 𝑠�0

Note that if s = 1, then the recessive allele a is completely eliminated after one generation in the
example above. After deriving the gene frequencies, the new genotypic frequencies after one
generation with genetic selection against the recessive a allele are computed as follows.

fAA1 = (p1)2

fAa1 = 2p1q1

faa1 = (q1)2

Zygotic Selection
In zygotic selection, the environment hinders the participation of individuals with specific
genotypes in the mating process. Considering gene A, suppose that the environment is selecting
against individuals with a genotype of aa. Thus, only individuals with genotypes AA and Aa are
allowed to mate. Refer to the table below for the determination of the effect of zygotic selection
on the gene/genotype frequencies.

Table 10.3 Determination of genotypic frequencies after one generation with selection against the
aa genotype.
GENOTYPES TOTAL
A Aa aa
f0 �0 2 2p0q0 �02 1
w 1 1 1-s
f0 x w �02𝑥 1 = �02 2�0�0𝑥1 = 2�0�0 �02(1 − 𝑠) �02 + 2�0�0
= �02 − 𝑠�02 + �02 − 𝑠�02
= 1 − 𝑠�02
 f1 �02 2�0 �0 �02 − 𝑠�02 1
�12 = 2�1 �1 =
1 − 𝑠�02 �12 =
1 − 𝑠�02 1 − 𝑠�02

Note that, in the case of zygotic selection, a selection coefficient of s = 1 does not result
in the elimination of the recessive allele. This is because heterozygotes can still contribute
recessive alleles to the next generation. The gene frequencies after one generation of zygotic
selection against homozygous recessive aa individuals are computed as follows.

Migration
In migration, there is introduction of individuals from a migrant population into a
recipient population. The recipient population has its own characteristic gene/genotypic
frequencies that are usually different from those of the migrant population. Because of the
addition of new alleles in the recipient population the gene/genotypic frequencies after migration
would change depending on the proportion of the migrant group, the number of generations of
migration and the difference in the gene frequencies of the same allele in both populations. The
formula that expresses the relationship of all these factors is shown below.

where n = number of generations with migration q0 =

frequency of an allele in the recipient population Q=
frequency of the same allele in the migrant group
qn = frequency of the same allele in the mixed population after n generations
m = ratio of the migrant group to the mixed populations

Genetic Drift
In any population, random changes in both the amount and direction of the gene and
genotype frequencies occur. However, in large, randomly mating populations, such changes are
not apparent. But in cases wherein small samples are derived from a population, such changes
can be clearly observed. These changes are due to a phenomenon called genetic drift.
INTENDED LEARNING OUTCOMES

At the end of each topic, the student should be able to:

1. calculate gene and genotypic frequencies in a population under random mating; and
2. demonstrate the effect of selection, migration and genetic drift on the gene/genotypic
frequencies in a population.
MATERIALS

black and white buttons

cloth bags
data on any human traits listed (Table 10.4)

Table 10.4 A list of common heritable traits in man.

curly vs. straight hair
hairy body vs. sparse hair on body
normal skin pigmentation vs. albinism
nearsightedness vs. normal vision
farsightedness vs. normal vision
hereditary cataracts vs. normal lens
astigmatism vs. normal corneal curvature
normal hearing vs. deaf-mutism
broad lips vs. thin lips
round eyes vs. chinky eyes
long vs. short lashes
polydactyly vs. normal number of digits
brachydactyly vs. normal length of digits
syndactyly vs. normal digits
normal muscles vs. progressive muscle atrophy
hypertension vs. normal blood pressure
diabetes insipidus vs. normal urine output
normal mentality vs. schizophrenia
normal intellect vs. feeble-mindedness
with migraine vs. without migraine
presence vs. absence of dimples

METHODS

A. Effect of Random Mating

1. Let a pair of buttons represent an individual of a particular genotype. The following

designations will be used:

COLOR OF PAIRS OF GENOTYPE OF

BUTTONS INDIVIDUAL
 white and white black AA
and white black and Aa aa
black

2. Take 100 AA, 200 Aa, and 100aa. These will consist of the initial population (Generation
0). Compute for the gene and genotype frequencies.

3. Assume the following

a. Any two buttons drawn at a time comprise a male-female pair.

b. All matings equally produce a progeny of 8 offspring each.
c. The progeny of each mating will correspond to Mendelian expectations.
d. A total of 400 individuals will be present every generation.

MATING TYPES EXPECTED SEGREGATION OF

PROGENY
AA x AA 8 AA
AA x Aa 4 AA : 4 Aa
AA x aa 8 Aa
Aa x Aa 2 AA : 4 Aa : 2 aa
Aa x aa 4 Aa : 4 aa
aa x aa 8 aa

4. Draw 2 pairs of buttons at random from the initial population. Note their genotypes and
return them to the population. This pair will comprise your first mating type. Repeat the
draw 50 times. The random draws simulate large population conditions and allow equal
probability of parenthood throughout a generation.

5. Record the frequency per mating type. Compute the frequency of each genotype in their
progeny and record this under Generation 1 of Table 10.5 in the worksheet.

6. Compute the gene and genotype frequency for this generation. If the fA>0.60 and/or
fa<0.40, repeat steps 4 and 5.

7. Let the total number of each genotype in the first generation comprise the new
population. Randomly mate to give the second generation. Additional buttons will be
provided for the purpose. Repeat the experiment for five generations.

8. Calculate the gene and genotype frequencies for all generations. Round off all values to
the second decimal place. Present all computations in the worksheet.

9. Plot the gene and genotype frequencies for all generations in a graph.

10. Using the data gathered by the instructor from other students presently enrolled in
genetics class, calculate for the gene and genotype frequencies for any one trait in the
population assuming random mating.

11. Answer additional questions on worksheets.

B. Effect of complete Zygotic Selection

1. Follow the same procedure as in Part A of this exercise but do not impose any limit on the
gene frequencies. Moreover, consider only the following matings:
 AA x AA
AA x Aa
Aa x Aa
2. This demonstrates complete selection against recessive individuals. Consequently, more
than 50 draws of a pair of buttons would be made to complete 50 matings each
generation.
3. Record the frequency of the above mating types. Complete the frequency of each
genotype among their offspring and record this per generation in Table 10.6. Show all
computations.

C. Effect of migration on the Gene Frequencies in the population

Follow the same procedures as in Part A of this exercise but do not impose any limit on
the gene frequencies. Prior to random mating, add 50 AA individuals to the population. For the
succeeding generations, add 50 AA individuals to the computed AA progeny prior to adjusting
the components of the population. Record the frequency of each mating type per generation in
Table 10.7. Show all computations.

D. Effect of Random Genetic Drift

1. Take 100 AA, 200 Aa, and 100 aa as in Part A. Randomly draw 40 pairs of buttons and
set them aside. Remove the remainder of the original population from the bag.
2. Take note of the number of AA, Aa, and aa in this sample of 40 pairs. This sample will
serve as the founder generation (i.e. Generation 0). Compute for the gene and genotype
frequencies. Show all solutions.
3. Randomly draw 2 button pairs from the founder population. Follow steps 3 to 5 of Part A.
Instead of 50 draws, make only 5 draws per generation.
4. Record the frequency per mating type. Complete the frequency for each genotype among
their offsprings and record this per generation in Table 10.8.

E. Complete the worksheet at the end of this exercise.

Exercise 10

Genes in Population

WORKSHEET

Name of members: Date Submitted:

_______________
______________________________________
______________________________________ Section:
______________________________________ ______________________
______________________________________
______________________________________

Effects of Random Mating

Write here all your computations for the gene and genotypic frequencies for all generations.
Table 10.5. Frequency of genotypes of the progeny at each generation of random mating.
Mating Expected Progeny Generation 1 Generation 2 Generation 3 Generation 4 Generation 5
Types per Mating f(genotype) f(genotype) f(genotype) f(genotype) f(genotype)

f(mating) AA Aa aa f(mating) AA Aa aa f(mating) AA Aa aa f(mating) AA Aa aa f(mating) AA Aa aa

AA x AA 8 AA

AA x Aa 4 AA : 4 Aa

AA x aa 8 Aa

Aa x Aa 2 AA : 4 Aa : 2 aa

Aa x aa 4 Aa : 4 aa

aa x aa 8 aa

TOTAL
Table 10.6 Gene and genotypic frequencies of the progeny at each generation of random mating.
GENERATION GENOTYPE FREQUENCIES GENE FREQUENCIES

AA Aa aa A a

2.0
Gene/Genotypic Frequency

1.6

1.2

0.8

0.4

1 2 3 4 5
Generation

Figure 1. Gene and genotypic frequencies of the progeny at each generation of random mating.
1. Calculate gene and genotypic frequencies of one trait assuming random mating in the
population of BIO 206L students.
 2. Do your data Part in A1-8 conform to Hardy-Weinberg equilibrium? Explain.

Effects of Complete Zygotic Selection

Write here all you computations for the gene and genotypic frequencies for all generations.
Table 10.7 Frequency of genotypes of the progeny at each generation of mating with complete selection against recessive individuals.
Generation 1 Generation 2 Generation 3 Generation 4 Generation 5
Mating Expected Progeny f(genotype) f(genotype) f(genotype) f(genotype) f(genotype)
Types per Mating f(mating) AA A aa f(mating) AA Aa aa f(mating) AA Aa aa f(mating) AA Aa aa f(mating) AA Aa aa
a

AA x AA 8 AA

AA x Aa 4 AA : 4 Aa

Aa x Aa 2 AA : 4 Aa : 2 aa

TOTAL
Table 10.8 Gene and genotypic frequencies of the progeny at each generation of mating with
complete selection against recessive individuals.
GENOTYPE FREQUENCIES GENE FREQUENCIES
GENERATION
AA Aa aa A a

5
Gene/Genotypic Frequency

2.0

1.6

1.2

0.8

0.4

1 2 3 4 5

Generation
Figure 2. Gene and genotypic frequencies of the progeny at each generation of mating with
complete selection against recessive individuals.
Effects of Migration

Write here all you computations for the gene and genotypic frequencies for all generations.
Table 10.9 Frequency of genotypes of the progeny at each generation of random mating with migration.
Generation 1 Generation 2 Generation 3 Generation 4 Generation 5
Mating Expected Progeny f(genotype) f(genotype) f(genotype) f(genotype) f(genotype)
Types per Mating f(mating) AA A aa f(mating) AA A aa f(mating) AA A aa f(mating) AA A aa f(mating) AA Aa aa
a a a a

AA x AA 8 AA

AA x Aa 4 AA : 4 Aa

AA x aa 8 Aa

Aa x Aa 2 AA : 4 Aa : 2 aa

Aa x aa 4 Aa : 4 aa

aa x aa 8 aa
TOTAL
Table 10.10 Gene and genotypic frequencies of the progeny at each generation of random mating
with migration.

GENOTYPE FREQUENCIES GENE FREQUENCIES

GENERATION
AA Aa aa A a
0

2.0
Gene/Genotypic Frequency

1.6

1.2

0.8

0.4

1 2 3 4 5

Generation

Figure 3. Gene and genotypic frequencies of the progeny at each generation of random mating
with migration.
Effects of Genetic Drift

Write here all you computations for the gene and genotypic frequencies for all generations.
Table 10.11 Frequency of genotypes of the progeny at each generation of random mating with genetic drift.
Generation 1 Generation 2 Generation 3 Generation 4 Generation 5
Mating Expected Progeny
f(genotype) f(genotype) f(genotype) f(genotype) f(genotype)
Types per Mating
f(mating) AA Aa aa f(mating) AA Aa aa f(mating) AA Aa aa f(mating) AA Aa aa f(mating) AA Aa aa

AA x AA 8 AA

AA x Aa 4 AA : 4 Aa

AA x aa 8 Aa

Aa x Aa 2 AA : 4 Aa : 2 aa

Aa x aa 4 Aa : 4 aa

aa x aa 8 aa

TOTAL
Table 10.12 Genotype and gene frequencies of the progeny at each generation of random mating
with genetic drift.

GENOTYPE FREQUENCIES GENE FREQUENCIES

GENERATION
AA Aa aa A a

2.0
Gene/Genotypic Frequency

1.6

1.2

0.8

0.4

1 2 3 4 5

Generation
Figure 4. Gene and genotypic frequencies of the progeny at each generation of random mating
with migration.
3. Considering what you did in the exercise, compare the trend in the frequency of a as the
population undergoes random mating, complete selection, migration, and random genetic drift.

4. In general, what is the effect of complete selection, migration and random genetic drift on
the gene frequencies of the population? a. complete selection

b. migration

c. random genetic drift

 End Chapter Test

1. The M and N blood groups are determined by two codominant alleles. In a random
sample of 200 persons, 128 were found to belong to group M. Assuming random mating, what is
the frequency of the N allele?

2. What is the frequency of heterozygotes Aa in a randomly mating population if the

frequency of the recessive phenotypes (aa) is 0.9?

3. Among 150 students of Biology 206L, 74 had adherent earlobes. Calculate for the gene
and genotype frequencies in the population.

4. Within a randomly mating population of mammals, the homozygous presence of the

recessive allele a causes white spotting in the fur, while the presence of dominant allele A causes
solid color. A survey was made and of 137 tagged, 4 were spotted. What is the frequency of the
recessive gene, of the dominant allele, and of the heterozygote?

5. Colorblindness is sex-linked. In a human population at equilibrium the frequency of

colorblind females is 40 per 1000 females.
a. What is the frequency of colorblind males?
b. What proportion of the females of the population would be heterozygotes?

6. Two small separated human populations, A and B, have respective frequencies Of

Phenylthiocarbamide tasters (caused by a dominant gene) of 0.85 and 0.25. If 5% of population
B comes from population A each generation, what will be the frequency of the tasting gene in
population b after 1 generation? after 5 generations?

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Fairbanks, D.J. and Andersen, W.R. 1999. Genetics: The Continuity of Life. California:
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Klug, W.S. and Cummings, M.R. 2007. Essentials of Genetics. 6th ed. New Jersey: Prentice Hall.
553 p.

Mendioro, M.S., Laude, R.P., Barrion, A.A., Diaz, M.G.Q., Mendoza, J.C., and Ramirez, D.A.
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Ramirez, D.S., Mendioro, M.S. and Laude, R.P. 2005. Lectures in Genetics. 8th ed. San Pablo
City, Laguna: 7 Lakes Printing Press. 231 p.

Russell, P.J. 1996. Genetics. 5th ed. Harper Collins College.

Tamarin, R.H. 2002. Principles of Genetics. 7th ed. Massachusetts: Wm C. Brown. 609 p.

Weaver, R.E. and Hedrick, P.W. 1997. Genetics. 3rd ed. London: McGraw-Hill Publishing
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