CHAPTER I

INTRODUCTION

This task is critical book report where we must reviewing about one topic in
one book and compare with the another book with same matter. Also we must
know the lack an excess about the content. My topic is populations and gene
frequencies. The objective we should this task to make more understand about the
topic, to compare the both of book and the last give conclusion about this topic.
The benefit from make critical book report are cultivate analysis character so can
make me more understand about it where in the future this knowledge that can we
use.
This topic focus about populations and gene frequencies. Population
genetics is telling about interbreeding group of individuals of the same species
existing as a population where the field of population genetics is restricted to only
one species. The genotypes of all interbreeding individuals in a population
collectively form a gene pool. In a population with N individuals there are 2N
haploid genomes. The haploid gametes combine during fertilisation to create a
new set of genotypes which together produce a reconstituted gene pool in each
generation.
And the comparison book tell that the theory of population genetics is a
theory of allele frequencies. Each gene in the genome exists in different allelic
states, and, if we focus on a particular gene, a diploid individual is either a
homozygote or a heterozygote. Within a population of individuals, we can
calculate the frequencies of the different types of homozygotes and heterozygotes
of a gene, and from these frequencies we can estimate the frequency of each of the
genes alleles. These calculations are the foundation for population genetics
theory.
One way of measuring genotype frequency is from phenotype frequency.
For example in 1000 humans there is A group occurred in 210, AB in 450 and B in
340 individuals. The frequency of blood group B for instance would be 340/1000
= 0.34. Another way of estimating genotype frequency is to first calculate gene
frequency of genes A and B in the population. As each individual carries two

1
alleles at the AB locus, the total number of alleles in the sample is 1000 2 =
2000. Out of these 210 + 210 + 450 = 870 are A. Therefore the frequency of the A
allele is 870/2000 = 0.435. The number of B alleles is 450 + 340 + 340 = 1130,
and the frequency of B allele is 1130/2000 = 0.565. If we represent the gene
frequency of A by p, then p represents a value between 0 and 1 (because the
proportion of allele A must lie between 0 and 100 per cent). In our example p =
0.435. And the frequency of B by q, then q = 0.565. It may be noted that q = 1 p
or 1 0.435. Similarly p = 1 q or 0.565. Thus p + q = 1.
For producing individuals with genotype AA, an A sperm must fertilise an
A egg. This occurs with probability p p = p2. An AB genotype results from
fertilisation of A sperm with B egg or vice versa, and the probability is p q or pq
+ qp = 2pq. The frequency of BB genotypes depends upon the chance fertilisation
of a B sperm and B egg; this has probability q q = q2 to be p2, 2pq, and q2. If we
substitute the values of p = 0.435 and q = 0.565 we can know that the frequency
of AA = (0.435)2 = 0.189, AB = 2 0.435 0.565 = 0.246, and of BB = (0.565)2
= 0.319.
The Hardy-Weinberg Law
In 1908, the mathematician G. H. Hardy in England and the physician W.
Weinberg in Germany independently developed a quantitative theory for defining
the genetic structure of populations. If a certain population of individuals with one
set of allele frequencies mixes with another set and complete panmixis occurs
(that is, random mating), then the genotypes of the next generation will be found
in the proportion p2 + 2pq + q2 (two alleles) and (p + q + r)2 = p2 + q2 + r2 +
2pq + 2pr + 2qr (3 alleles) where p and q are allele frequencies in the new mixed
populations without evolutionary processes like migration, mutation, selection
and drift are operating.
And the comparison book telling with random mating and no differential
survival or reproduction among the members of the population, the Hardy-
Weinberg genotype frequencies-and, of course, the underlying allele frequencies-
persist generation after generation. This condition is referred to as the Hardy-
Weinberg equilibrium.

2
Aplications Of Hardy-Weinberg Law
(a) Complete Dominance: If two genotypes AA and Aa the allele frequencies can
be determined from the frequencies of individuals showing the recessive
phenotype aa. We can say the frequency of aa as q example q = 0.5, then q2
= (0.5)2 = 0.25. In other words when aa phenotype is 0.25 in the population,
then it follows that the frequency of the recessive allele a is 0,25 = 0.5. The
frequency of the dominant allele A would be 1 q or 1 0.25 = 0.75.
(b) Frequencies of Harmful Recessive Alleles: example one out of 1,000 children
is affected with cystic fibrosis, then the frequency q2 = 0.001, so that q =
0.001 = 0.032, then 2pq = 2 0.032 0.968 = 0.062 means 62 individuals
out of 1000 or one out of 16 is a carrier of the allele for cystic fibrosis.
(c) Multiple Alleles: There are 3 alleles IA, IB and IO of blood with frequencies
p, q and r. Here p + q + r = 1. The genotypes of a population with random
mating would be (p + q + r)2.
(d) Sex-linked Loci: Red green color blindness is a sexlinked recessive trait. Let r
denote the recessive allele which produces affected individuals, and R the
normal allele. The frequency of R is p and of r is q where p + q = 1. The
frequencies of females having RR, Rr, rr genotypes would be p2, 2pq, q2
respectively. The frequency of normal R males would be p. Suppose the
frequency of r alleles is 0.08, then the incidence of affected males would be
0.08 or about 8%. The frequency of affected rr females would be (0.08)2 =
0.0064 or 0.64% so males would be affected a hundred times more frequently
than females.
(e) Linkage Disequilibrium: Consider two or more alleles at one locus and
another locus on the same chromosome with two or more alleles.
But based on the comparison book only telling about one example to
determine the M-N blood-type in two alleles, the recessive metabolic disorder
phenylketonuria (PKU) is about 0.0001 until know its validity using chi-square,
and the last and determine the ABO blood types are determined by three alleles
IA, IB, and i. Actually the formulate same with the criticized book.

3
Nonrandom Mating
When genotypes do not mate at random it is called nonrandom mating, for
example the case of albinos having recessive genotype aa; normal individuals are
AA and Aa. The frequency of a allele is 0.01, and of the normal A allele is 0.99.
When the population is at equilibrium the frequency of AA individuals is (0.99)2
X1000 = 980 per thousand. The heterozygous carriers Aa is 2(0.99X0.01)X1000=
19.8 in a thousand, and albinos (0.01)2 X1000= 0.1 per thousand.
Inbreeding And Assortative Mating
These are two departures from random mating. Inbreeding is a form of
nonrandom mating that takes place between relatives having like genotypes. It
increases the frequency of homozygotes in the population and decreases the
frequency of heterozygotes. The harmful effects of inbreeding in increasing the
frequency of recessive
Inbreeding Coefficient
When relatives marry, they are likely to have one or more common
ancestors. If an ancestor of both mates is carrier of a harmful recessive gene, in
that case, both mates who are direct descendants could also be carriers designated
by the symbol f. If the inbreeding coefficient of the population is f, then the
frequencies of AA, Aa, and aa genotypes will be p2(1 f) + pf, 2pq(1 f), and
q2(1 f) + qf respectively. When there is no inbreeding, f is reduced to zero, and
the proportions of genotypes attain.
Studies on the effects of inbreeding in humans have shown mental and
physical defects and increased risk of death in children of first cousin marriages.
Such children may or may not have a lower I.Q., growth rate and lesser capability
than noninbred children. It has been estimated that an average human being
carries 35 genes that could produce severe mental or physical disability. This
means that a normal human being is a heterozygous carrier of 610 alleles which
in the homozygous condition could cause death or severe mental or physical
disabilities
Inbreeding Depression And Heterosis
inbreeding also leads to reduction in vigour, fitness, fertility and other
such attributes. This is called inbreeding depression and results from deleterious

4
alleles becoming homozygous. However, if independently inbred lines are
crossed, the resulting hybrids show increased vigour, fitness and fertility over the
parents.
And based on the comparison book in the same case the genotype
frequencies in this population are given by the following formulas:

Where each homozygote, the increase in frequency is exactly half the decrease in
the frequency of the heterozygotes. Furthermore, each change in genotype
frequency is directly proportional to the inbreeding coefficient.For a population
that is completely inbred, F--1, and the genotype frequencies become

:
Variation Of Populations
There is an enormous range of variation in heritable traits visible at the
phenotypic or genotypic level. Changes in populations may be due to various
factors such as migration of individuals from other populations; mutations and
recombinations; selection; random fluctuations in the reproductive rates of
different genotypes. For example:
1. Variations in snail shell morphologhy, the shell of the land snail Cepaea
memoralis has two alleles at a single locus that determine color of shell as
pink or yellow, with pink dominant over yellow. Another locus linked to
the color locus determines banded versus unbanded shells.
2. Polymorphism in proteins can be traced to the structural genes encoding
the polypeptide. A change in the triplet codon of a structural gene results
in amino acid substitution in the polypeptide chain. The method of
detecting polypeptide polymorphism is to isolate a specific purified protein
from several individuals and determine the sequence of the protein

5
3. DNA Sequences Polymorphisms. Restriction Fragment Variation: A
restriction enzyme such as EcoRI that recognizes a six nucleotide sequence
will cut the DNA at a defined number of sites based on probability. Repeat
DNA Sequence Variation: Restriction enzymes can be used to assess
variation in the repeated DNA sequences. The variable number tandem
repeats (VNTRs) are short sequences dispersed throughout the genome.
Changes In Gene Frequencies In Populations
1. Migration
The phenomenon called gene flow takes place if one population
contributes an allele to the other population. Let us suppose that a migrating
population m interbreeds with members of another population. Then the
descendants of the next generation will have m genes from the migrants and
1 m genes from members of the original population. Consider an allele A
occurring with frequency p in migrant population. In the original population
this allele has frequency q. In the next generation the frequency of A in the
new population would be r = (1 m)q + mp = q m (q p).
In the comparison book, telling about in population I the
frequencies of A and a are both 0.5, whereas in population II the frequency
of A is 0.8 and that of a is 0.2. In the merged population, the allele
frequencies will be the simple averages of the frequencies of the separate
populations; the frequency of A will be (0.5+0.8)/2=0.65, and the frequency
of a will be (0.5+0.2)/2=0.35. Moreover, the genotype frequencies in the
merged population will be the simple averages of the genotype frequencies
in the separate populations: the frequency of AA will be
(0.25+0.64)/2=0.445, that of Aa will be (0.50+0.32)/2=0.410, and that of aa
will be (0.25+0.04)/2=0.145. Notice, however, that these observed genotype
frequencies are not equal to the frequencies predicted by the Hardy
Weinberg principle: (0.65)2=0.422 for AA, 2(0.65)(0.35)=0.455 for Aa, and
(0.35)2=0.123 for aa. The reason for this discrepancy is that the observed
genotype frequencies were not created by random mating within the entire
merged population.

6
 2. Mutations
The ultimate source of all genetic variation is mutation. Both
chromosomal rearrangements and point mutations are implied here as they
follow the same rules of population dynamics. Example in maize the
recessive mutator gene Dt acts on an unlinked locus a which controls
synthesis of the purple anthocyanin pigment.
3. Selection
The idea was first conceived by Charles Darwin in his Origin of
Species published in 1859 and by Alfred Russel Wallace. Selection is
defined as differential survival or fertility of different genotypes. If
individuals carrying gene A are more successful in reproduction than
individuals carrying its allele a, then the frequency of gene A will tend to be
greater than that of gene a. When fitness of two alleles at a locus differs then
selection favours survival of alleles with greater fitness and elimination of
the other alleles. Thus frequency of one allele increases and of the other will
decrease in the subsequent generations.
4. Random Genetic Drift
These are unexpected random changes that occur in gene frequencies
from generation to generation in all populations. They are particularly
noticeable as sampling variation in small populations.
And the comparison book telling mutation, the ultimate source of all
genetic variability, is a random process that profoundly affects evolution; without
mutation, evolution could not occur. Darwin also recognized that inheritance
(which he did not understand) is unpredictable. Traits are inherited, but offspring
are not exact replicas of their parents; there is always some unpredictability in the
transmission of a trait from one generation to the next.

7
 CHAPTER II
DISCUSSION
A. The Plus of This Chapter
From this book especially from this chapter using simple sentences so
make me easier to understand about the matter
Explain about what is population in gene and give illustration to make
more easier to understand
Contain about some sub matter, they are The Hardy-Weinberg Law,
nonrandom mating, inbreeding and assortative mating, variation of
populations, changes in gene frequencies in populations
Contain about some example about calculation of gene frequencies
like blood-type, mutations, etc
Provide information that inbreeding is very dangerous because can
provide high risk
B. The Shortages of This Chapter
The format of sub-chapter is not really good
The calculate of gene frequencies in description or paragraph so make
difficult for understand and if we compare with the comparison book
very different because contain the table in calculate and there is the
graphics too.
Without picture, table, graphic, or another media and all make in text
so not effective to study and make bore. Different with comparison
book that contain about some alternative like picture, table, graphic to
make more understand the reader.
If we compare the content, the comparison book have more sub-matter
and explanation better than the criticized book.

C. Question
A. Main points this chapter:
According to Hardy and Weinberg's law in 1908 that the
frequency of a population's allele and genotype is always constant
from generation to generation under certain conditions. This law is

8
 used as a parameter to find out whether in a population an ongoing
evolution is taking place or not. If the frequency in a population is
always constant from generation of generation, then the population is
not evolved. and otherwise.
If the frequency of one gene is expressed by the symbol p and its
allele with the symbol q, then the mathematically huku can be written
as follows: p + q = 1 or equal to 100%, (p + q) = 1 or equal to 100%,
P2 + 2pq + q2 = 1 or ama with 100%, Pp + 2pq + qq = 1 or equal to
100%.
Where : pp = the dominant homozygous allele
2pq = the heterozygous allele
Qq = a homozygous recessive allele.
The conditions that support Hardy Weinberg's Law are:
a. The size of the population should be large
b. There is isolation from other populations
c. No mutations occur
d. Random marriage
e. There is no natural selection.
B. Why this chapter important to understanding
We know about this topic because in the future we can be
biology teacher. Also to explain to the some culture which give
inbreeding that is not good because have high risk in the nest
generations and as we know population genetics can be applied in
various fields, especially health, breeding, and conservation. In the
health field, population Genetics is applied to:
1. Genetic counseling is especially for people with genetic disorders.
2. Make population map of genetic in abnormalities and identification
of genes that play a role in causing a genetic disorder in humans.
3. Scanning especially for those who are considered as carriers of
hereditary diseases.

9
 C. How we can spread and share the information of this chapter for your
classmate:
In class when we study about the genetics subject I will tell to
my classmate about the genetics not only about description, process,
structure and theory but also the gen we can calculate the frequency in
a population of them. And when we discuss about some culture which
give inbreeding that is not good because have high risk in the nest
generations cause the next generations the recessive will be found.
Such children may or may not have a lower I.Q., growth rate and
lesser capability than noninbred children.

CHAPTER III
CONCLUSSION

The conclusion that I can found after criticized and compare the both of
book, Population of genetics is a science that studies the composition and genetic
variation of individuals in a population and factors that can alter the genetic
composition. Hardy-Weinberg's principle states that the frequency of alleles and
the frequency of genotypes in a population will remain constant, ie, being in
equilibrium from one generation to another unless there are certain influences that
disrupt the equilibrium. And set that population will remain in equilibrium and
this is spelled out by the formula: P2 + 2pq + q2 = 1. And there are factors that
influence the frequency of genes, they are: Inbreeding, Migration, Mutations,
Selection, Random Genetic Drift.

REFERENCES
Ahluwalia, Karvita B. 2009. Genetics Second Editions. New Delhi: New Age
International Publishers
Snustad, D. Peter and Simmons, Michael J. 2012. The Principles Of Genetics
Sixth Edition. United States of America : John Wiley & Sons, Inc

10