University of Eswatini

Department of Inservice Education

EGCSE BIOLOGY TOPIC NOTES Authors: Mr.

F. K. Dlamini and Mrs. P. B. Maseko

INHERITANCE
CHROMOSOMES
Characteristics of organisms may be brought about by
what the person experiences in the environment or
passed from parents to children.

A person develops a six-pack chest by exercising or

speak Siswati by living with Emaswati. These
characteristics are called environmental characteristics.
A person is born with certain characteristics such as skin
and eye colour. These characteristics that a person
receives from parents are called genetic characteristics.
They are determined by codes in the cell chromosomes
called genes.

The transmission of genetic information from generation

to generation, leading to continuity of, and variation
within, the species is called inheritance.

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The nuclei of all cells contain chromosomes. The
chromosomes are threads of deoxyribonucleic acid
(DNA), made up of genes.

Cytoplasm

Nucleus

Cell

Nucleus

Chromosome

DNA is the molecule that carries the chemical

instructions on how new cells should be made,
determining how the organism will look and function. A

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section of DNA, which codes for the formation of a
protein, controlling a specific characteristic of an
organism is called a gene.

Chromosome

DNA

Nucleotide
Gene

The gene is made of nucleic acids units called

nucleotides. There are four types of nucleotides,
Adenine, Cytosine, Guanine and Thymine, referred to by
single letter abbreviations; A, C, G and T. Therefore,
nucleotide strands form genes. A series of genes form a
thread of DNA, which coils up to be form a chromosome.

The series of nucleotides in DNA are arranged into a

double strand, two chains of nucleotides, called
polymers, joined together like a ladder by the bases A, C,
G and T. The double strand is twisted to form a spiral or
helical structure.

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The twisted molecules are arranged in a particular
manner, with specific nucleotides always found joined
together across the ladder. The nucleotide called A
always pairs with the nucleotide T. Likewise G always
pairs with C; A-T and C-G.

Each gene controlling a characteristic of an organism has

a twin on another chromosome for controlling the same
characteristic. The alternative form of a gene is called an
allele. Each chromosome has a partner that carries the
same genes (alleles) in the same position. One
chromosome was inherited from the male parent and
the other from the female parent.

All organisms of the same species have the same

number of chromosomes in the nuclei of somatic (body)
cells. The nucleus of somatic cells, which contains the
pairs of chromosomes, is called a diploid nucleus.

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Sperms and ova (gametes) a nucleus that has a single set
of unpaired chromosomes called a haploid nucleus. They
have half the number of chromosomes.

The human somatic cells chromosomes in pairs Nuclei of

human somatic cells have 46 chromosomes (23 pairs)
coding for all the characteristics of the human being.

Human sex cells (sperms and ova) contain 23

chromosomes each. They contain one from each pair
such that during fertilisation the fuse together to form
the full set of 46 chromosomes in the zygote.

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 CELL DIVISION
In human beings during fertilizations, 23
chromosomes from the haploid ovum nucleus
come together with 23 matching chromosomes
from the haploid sperm nucleus. The matching
pairs are called homologous chromosomes. The
zygote formed has a diploid nucleus with 46
Chromosomes in 23 pairs. This zygote goes
through cell division to produce new cells with the
same number of chromosomes to form tissues,
organs and organ systems of a complete
organisms.
MITOSIS
The cell division that takes place in body cells, also
called somatic cells, resulting in the formation of
two daughter nuclei which are identical to each
other and to the parent cell is called mitosis. The
daughter cells produced have the same genetic
information as the parent cell. Mitosis occurs
during growth and tissue repairs throughout the
life of an organisms.

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 MITOSIS

Chromatids separate and go to different sides

Chromatids replicate to double strands

Cell divides to two daughter cells

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MEIOSIS
Cell division that takes place during the formation of
gametes is different from that of somatic cells.
When sperms and ova are produced, the cell
divides in two stages.
During the first stage;
 Homologous chromosomes pair up,
 Homologous chromosomes exchange some
genetic information by a process called
crossover.
 Homologous chromosomes split to different
sides. 23 chromosomes go to form one nucleus
and the other 23 go to another.
 Haploid nuclei are formed during this stage.
 The cell divides to two daughter cells.
During second stage;
The two haploid nuclei divide normally to form four
nuclei with the same haploid number of
chromosomes.
.

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 MEIOSIS
STAGE 1

Homologous
chromosomes
separate

Haploid
nuclei

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 MEIOSIS
STAGE 2 Haploid
nuclei

Chromatids
separate

The gamete nucleus carries different genetic

information from the other and are different from
the parent nucleus. This is because homologous
chromosomes exchange genetic information by
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 crossover and also separate and go to different
gametes.
The cell division that takes place when gametes are
formed resulting in halving of the chromosome
number which leads to variations in the
characteristics of the organisms is called meiosis
MONOHYBRID INHERITANCE
INTRODUCTION
The characteristics of an organisms such as eye
colour, height etc. are also known as traits. Each
trait is controlled by a gene with two alleles. The
genetic make-up of an organism is called the
genotype. The type of alleles making up a gene
that controls a trait in an organism describes its
genotype. The characteristics visible in an
organism controlled by the genotype and the
environment is called the phenotype. Traits such
as skin colour and height are the phenotypes.
Characteristics are passed from parents to the next
generation, called offspring, in certain patterns.
The study of the pattern of inheritance involving
only one characteristic controlled by a pair of
alleles is known as monohybrid inheritance.

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DOMINANCE
The alleles controlling a trait can have alternative
effects on the phenotype. A pair of identical
alleles controlling the same characteristic is said
to be homozygous. Homozygous alleles produce
the same effect for a characteristic.

Gap-teeth characteristic
Let us take for example the genes that control the
gap in the front teeth. If the allele inherited from
the mother is for the gap-teeth and the allele
from the father is for gap-teeth then they are said
to be homozygous for gap-teeth.
A pair of dissimilar alleles for a characteristic are
called heterozygous. Heterozygous alleles have
different effects on the trait. If the allele for front
teeth from the mother is gap-teeth and from the
father is closed teeth then they are heterozygous.
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A gene that always shows in the phenotype of can
organism whether the organism is heterozygous
or homozygous is said to be dominant. Dominant
alleles are represented by a capital letter in
genetic code.
A gene that only has an effect on the phenotype
when the organism is homozygous is recessive.
Recessive genes are represented by a small letter.
If a child inherited gap-teeth allele from the
mother, closed teeth allele from the father and
has the gap in phenotype, then the allele for gap-
teeth is dominant (T) over the allele for closed
teeth (t). The genotype is written as Tt.

Chromosome from mother T

Chromosome from father t

Alleles for front teeth gap
Homozygous can be double dominant (TT) or double
recessive (tt).
Chromosome from mother T

Chromosome from father T

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GENETIC DIAGRAMS
Genetic diagrams and Punnet squares are used to
predict the ratios of offspring genotype and
phenotype of monohybrid crosses.
A genetic diagram and Punnet squares are
representation showing;
 parents' phenotype [visible trait of parents]
 parents' genotype [parent genes controlling trait]
 gametes [splitting the genotypes to gametes]
 offspring genotypes [possible gametes match]
 offspring phenotypes [characteristics of offspring]
 ratio [ratios of the alternative traits]
Let us look at a genetic diagram of a cross between a
gap teeth mother with a closed teeth father. This
is a cross between homozygous dominant (TT)
and homozygous recessive parents(tt).

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Parents’ phenotype Gap teeth Closed teeth
Parents’ genotype TT X tt

gametes T T t t

offspring genotype Tt Tt Tt Tt
offspring phenotype gap gap gap gap
Ratio: All 100% will be gap teeth

The crosses can be shown using a Punnet square

Parents’ phenotype Gap teeth Closed teeth
Parents’ genotype TT X tt

gametes T T

t Tt Tt
Offspring genotype
t Tt Tt
Offspring phenotype: Tt = all gap teeth

Ratio: All 100% will be gap teeth

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Let is look at a cross between heterozygous gap
teeth parents.
Parents’ phenotype Gap teeth Gap teeth
Parents’ genotype Tt X Tt

gametes T t T t

offspring genotype TT Tt Tt tt
offspring phenotype gap gap gap closed
Ratio: 3 gap teeth: 1 closed teeth

SEX INHERITANCE AND CODOMINANCE

SEX INHERITANCE IN MAN
All organisms of the same species have the same
number of chromosomes in the nuclei of somatic
(body) cells. The nucleus of somatic cells, which
contains the pairs of chromosomes, is called a
diploid nucleus. The (23 pairs) code for all the
characteristics of the human being. Human sex
cells (sperms and ova) contain 23 chromosomes
each. The nucleus containing a single set of
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 unpaired chromosomes is called a haploid
nucleus.
Sex in humans is controlled by the 23 rd pair of
chromosomes, known as X and Y chromosomes.
Two X chromosomes (XX) code for a female. An X
and a Y (XY) pair of chromosomes codes for a
male. All females have XX as the chromosomes
and all males have XY chromosomes in their
somatic cells.
During the formation of gametes (segregation)
females produce ova with one X chromosome
only. Males produce sperms each containing
either an X or a Y chromosome. Half the number
of sperms contain the X chromosome and the
other half contains the Y chromosome. All female
ova contain X chromosomes.
During fertilisation, if a sperm containing an X
chromosome fuses with an ovum, the offspring
will have two X chromosomes (XX) which codes
for a female. If a sperm containing a Y
chromosome fuses with an ovum, then the
offspring will have one X chromosome and one Y
chromosome (XY) which codes for a male.

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We can show the inheritance of sex through a
genetic diagram. Instead of allele we use the X
and Y chromosomes.
Parents’ phenotype female male
Parents’ genotype XX X XY

gametes X X X Y

offspring genotype XX XY XX XY
offspring phenotype female male female male
ratio: 50% female: 50% male

There is a 50% chance of the offspring being either

male or female. This may not be observed in real
life for a small number of offspring.
CODOMINANCE
Some characteristics are controlled by alleles that
both visible in heterozygous. When two alleles of
a gene are equally expressed in the offspring
phenotype when they exist in the heterozygous
condition (neither being dominant over the other)
are said to be codominant. Different letters are
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 then used to represent them instead of same
letter in capital or small letter.
The inheritance of human blood groups is an
example of codominance. Human blood is
classified into four blood groups; A, B, AB, O.
These are the expressed characteristics called
phenotypes. Each person has two alleles
controlling blood groups but the gene has three
version of the allele.
The alleles are called IA, IB and Io. The letter A, B and
o are written as superscripts in the genotypes. IA
and IB are codominant; Io is recessive to both IA
and IB. A person with genotypes IAIA or IAIo will
produce blood group A. Genotypes IBIB and IBIo
produce blood group B. Genotype IAIB produces
blood group AB because alleles IA and IB are
codominant. Genotype IoIo produces blood group
O.

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 homozygous A crossed with homozygous B
Parents’ phenotype A B
Parents’ genotype IAIA X IBIB

gametes IA IA IB IB

offspring genotype IAIB IAIB IAIB IAIB

offspring phenotype AB AB AB AB

All characteristics are display with codominance.

heterozygous A crossed with O
Parents’ phenotype A O
Parents’ genotype IAIA X IoIo

gametes IA IA I0 Io

offspring genotype IAI0 IAIo IAIo IAIo

offspring phenotype A A A A

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A heterozygous crossed with B heterozygous
Parents’ phenotype A B
Parents’ genotype IAIo X IBIo

gametes IA Io IB Io

offspring genotype IAIB IAIo IBIo IoIo

offspring phenotype AB A B O

SEX LINKAGE
There are characteristics whose expression is linked
to the sex of the organism called sex linked
characteristics. A sex-linked characteristic is
characteristic in which the gene responsible is
located on a sex chromosome which makes it
more common in one sex than the other. The sex-
linked traits commonly have their gene found only
on the X chromosome and not on the Y
chromosome.

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Colour blindness
Red-green colour blindness, is an
example of a sex-linked
recessive characteristic. The
cones on the retina of colour-
blind people cannot
distinguish between certain
1 Do you see a
colours. number in this figure?
The allele for red-green colour
vision is found on the X chromosome, designated
as XC or Xc. Superscript capital (C) represents the
dominant allele and superscript small letter (c)
stands for recessive allele. The Y chromosome
does not have the gene. Therefore, males have
only one allele and females have two alleles.
Normal vision allele is dominant over colour
blindness.
colour vision allele

male female

XY XX
For a male to be colour blind, his X chromosome
must have the allele for colour blindness (XcY). For

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 a female to be colour blind she must have both
alleles for colour blindness (XcXc). A female with
one colour blindness allele (XCXc) is not colour
blind and is called a carrier. When she gets a male
child, who receives the Xc allele he will be colour
blind. But if he receives the XC allele he will have
normal vision.
Cross between carrier female and normal male
Female Male
parents’ phenotype normal normal
parents’ genotype X CX c X X CY
gametes XC Xc XC Y

F1 genotype X CX C X CY XC Xc Xc Y
Female Male Female Male
F1 phenotype normal normal normal Col. blind

A colour blind father cannot pass it to his sons

because males pass only the Y chromosome to
their sons. The colour blind father can only pass
the colour blindness allele, on his X chromosome,
to his daughters. A daughter who receives the
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 colour blindness allele on the X chromosome from
the father and same from a mother who is colour
blind or a carrier will be colour blind.
Cross between normal female and colour-blind
male
Female Male
parents’ phenotype normal Col. blind
parents’ genotype X CX C X Xc Y
gametes XC XC Xc Y

F1 genotype X CX c X CY XC Xc X CY
Female Male Female Male
F1 phenotype normal normal normal normal

A father who is not colour blind will not have colour

blind daughters because he gives them his normal
allele on his X chromosome, which dominates a
colour blindness allele from carrier mothers.
Colour blindness is common among males because
they have one X chromosome whole allele is
always expressed.

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Haemophilia
Haemophilia is another sex-linked characteristic. It is
a sickness in which the ability of the blood to clot
is severely reduced causing the sufferer to bleed
severely from slight injuries. The condition is
caused by the shortage of a coagulation factor in
the blood. The gene for making the coagulation
factor is found on the X chromosome. There is a
faulty allele of this gene which causes the blood
to fail to produce the factor.
In the same manner as colour blindness, females
have two alleles (XH XH) and males have one allele
(XHY). Normal blood is dominant (XH) and
Haemophilia is recessive (Xh).
In the same way as in colour blindness, the results of
crosses involving the haemophilia alleles can be
predicted using genetic diagrams.

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 Normal mother and hemophilic father
Normal mother (XH XH)
Hemophilic gametes (XH) (XH)
father (Xh) XH Xh XH Xh
(XhY) (Y) XH Y XH Y
A cross between a hemophilic father and normal
mother results in all normal sons and all carrier
daughters.
carrier mother and normal father
Carrier mother (XH Xh)
Normal gametes (XH) (Xh)
father (XH) XH XH XH Xh
(XHY) (Y) XH Y XhY
A cross between a carrier mother and a normal
father results in 50% chance of sons being
hemophilic and 50% of the daughters being
carriers.
VARIATION
TYPES OF VARIATION
Are you the same height as the boys and girls of your
age in your class? Organisms of the same species
may have different characteristics. These
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 observable differences within a species are known
as variation. Variation in a feature may show a
range of phenotypes between two extremes with
many intermediates such as heights. The heights
of 17-year old learners may range from 160cm to
185cm, with many intermediaries in between.
Variation that has many intermediates is called
continuous variation. There are no discrete
groups or categories of the characteristic. These
variations are controlled by the several pairs of
alleles and may be affected by environmental
factors, resulting in changes over time. A person
may be genetically tall but poor diet may stunt his
growth. A graphic representation of continuous
variation shows a normal distribution curve
without breaks.

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Think of variation in sexes. There is male or female.
There are no intermediates like in heights.
Variations in a feature in which there is a limited
number of phenotypes with no intermediates is
called discontinuous variation. There are obvious
and distinct categories for a feature, like blood
groups. There are exactly four blood groups and
nothing in between. These are caused by the
genotype only and cannot be influenced by the
environment. This implies that the feature usually
cannot change over time. They are controlled by
one pair of alleles. When the frequencies of the
feature are plotted on a graph, discrete bars are

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 produced which cannot be linked with a smooth
curve.

MUTATION
Sometimes there is a sudden change in a gene
sequence or in chromosome. Such changes may
occur in somatic cells resulting in cancers. More
significant changes take place in gametes.
Changes in gametes affect the genetic make-up of
the offspring and are passed to the next
generation. A spontaneous change in a gene or
chromosome is called mutation. Mutations form
new alleles which bring about new characteristics
in the species leading to variation. The rate of
mutation is increased by exposure to some
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 chemicals such as benzopyrene in cigarette
smoke and ionizing radiations from radioactive
materials, such as alpha, beta and gamma
radiation.
There is an inherited form of mental and physical
retardation, known as Down's syndrome. It
results from chromosome mutation in which the
ovum carries an extra chromosome, such that it
brings 24 instead of 23 chromosomes. After
fertilisation, the zygote has 47 chromosomes
instead of 46. The child grows with unusual body
features and retardations.
Another disease caused by a change in the sequence
of bases in the DNA is called Sickle-cell anaemia.
An error occurs during meiosis such that the new
daughter cells end up with a different sequence of
bases from the parent. The person with the
mutation develops defective haemoglobin
molecules in the blood. The red blood cells with
the defective haemoglobin shrink and become
like a sickle when there is low oxygen resulting in
severe anaemia.

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INCOMPLETE DOMINANCE
The defective gene for sickle-cell anaemia is normally
recessive. However, when a person who is
heterozygous for sickle-cell gets the malaria
causing parasite called plasmodium parasite, the
sickle-cell gene becomes dominant, causing the
affected cell to shrink and die killing the parasite.
This kind of dominance is called incomplete
dominance. We can represent the gene for
abnormal haemoglobin by HbA and sickle-cell
hemoglobin as HbS since there is incomplete
dominance. When we cross two carriers of the
sickle-cell anaemia we get offspring in ratio with
normal 1: carrier 2: sufferer 1.

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Parents’ phenotype Normal Normal
Parents’ genotype HbAHbS X HbAHbS

gametes HbA HbS HbA HbS

A S A S S S
F1 genotype HbAHbA Hb Hb Hb Hb Hb Hb
Carrier Carrier Sickle-cell
F1 phenotype Normal
F1 ratios Normal 1: Carrier 2: sickle-cell 1

The sickle-cell anaemic people who are homozygous

for sickle-cell anaemia will suffer severe anaemia
and will not live long enough to reproduce.
Therefore, we would expect the genes for the
disease to be reduced in the population since they
are not passed on. However, in many African
countries where malaria is prevalent, the sickle-
cell anaemia genes persist in the population.
The normal people, without the sickle-cell genes
(HbA HbA), are susceptible to be killed by malaria.
The carriers of sickle-cell genes, who are
heterozygous for sickle-cell (HbAHbS) have special
immunity from malaria. When the parasite enters
a carriers’ red blood cell, the gene for sickle-cell
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 becomes dominant and shrink the cell, killing the
malaria parasite. Therefore, the heterozygous
people for sickle-cell anaemia are protected from
malaria. This protection also keeps the gene for
sickle-cell anaemia prevalent in the population
with the carriers.
SURVIVAL OF THE BEST FITTED
Organisms in an environment compete for available
resources. They compete for food, space and
even compete when avoiding death from
predators and calamities. A stronger and faster
lion gets to catch prey and survive. A slower, non-
muscular lion can't catch prey so it dies before
giving its slow genes to offspring. Variation makes
organisms with certain good traits to outcompete
those that are less adapted to survive in the
environment. Organisms that are better-suited to
survive in the environment, reproduce and
perpetuate their good traits. Those organisms
which are less adapted fail to survive and do not
pass on their traits, hence they are selected out.
Variation brought about by mutation provides the
variety of traits for survival of the best fitted
organism.
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 SELECTION
INTRODUCTION
Variation in species helps them to continue to
survive from generation to generation even when
the environment changes. If there could be a
mutation in fishes that produced genes that make
some fishes to thrive in warm waters, global
warming would favour those mutant fishes. As
the sea gets warmer the normal fish would die
and the mutants would continue to survive and
pass on the good genes. Competition for
resources in the environment favours variants
which are most suited, selecting them to survive
and pass on their genes. This differential survival
of individuals within a species, due to differences
in phenotypes is called selection.
NATURAL SELECTION
Selection takes places all the time in organisms due
to natural factors such as predators, change in
climate or shortage of food supply. Given a long
period of time, selection results in creation of new
species. As the individuals with the less favoured
characteristics disappear and new better fitted
organisms survive, the population evolves.
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When selection happens in the environment without
human intervention it is called natural selection.
It is thought that all living organisms developed
from earlier forms of organisms over a long time
by the process of evolution. This theory was first
proposed by Charles Darwin, a British biologist in
1859. Natural selection is the mechanisms for
evolution.

2 Evolution of Homo sapiens

ARTIFICIAL SELECTION
Human beings sometimes choose species that are
suited for human needs and breed them while
discarding those that are weaker or have
undesirable traits. The modification of plant or
animal species by human intervention to make
sure those traits which are desirable appear in
successive generations is called artificial selection
or selective breeding.
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Through artificial selection, farmers and breeders
can improve the quality and quantity of yields
resulting in increased profits. Those who breed
cattle keep the best bull to breed and pass its
good genes and slaughter or castrate the weaker
males so that they don't mate to pass on their
genes.

ANTIBIOTIC RESISTANT BACTERIA

Dangerous pathogens come about by mutation.
Some harmless viruses and bacteria mutate to
produce the dangerous variants of the pathogen.
When we take antibiotics to kill bacterial diseases
in our bodies, the weak variants of bacteria die
first. Towards the end of the treatment, when you
feel better, the concentration of the antibiotics in
your body is high and ready to kill any new
variants that may be difficult to kill. Therefore, it
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 is important that when you take antibiotics, you
finish the whole prescription given by the doctor.
What happens when a person stops taking the
antibiotics before finishing the full course? The
half-course antibiotic will selectively kill the weak
bacteria and leave the resistant variants in the
blood. The resistant variants will multiply and
cause the person to be sick again. This time the
person has only drug-resistant variants only in the
blood. These strains will not be killed by the
antibiotic any more. They will survive and
reproduce passing on their antibiotic resistant
genes to the next generation. This is how multi-
drug resistant (MDR) tuberculosis develops by
natural selection.
MDR organisms resist distinct drugs or chemicals of
a wide variety of structure and function targeted
at eradicating them. Organisms that display
multiple drug resistance can be pathogens such as
tuberculosis bacteria which causes MDR TB. It is
important to complete the full course of antibiotic
medication to eradicate all the bacterial strains in
the body.

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