Genetics

Genetics is the study of genes, heredity, and variation in living organisms. This is
biological science which seeks to account for the resemblance and differences
which are exhibited among organisms.

• Gene; - is the unit on the chromosome which contains the genetic

information to be carried from generation to another.

• Heredity; - is the passage of characters from one generation to another.

• Variation; - refer to the differences among members of the same species,

such as body height, skin colour, blood group etc. Therefore variations are
deviation from normal situations which are either beneficial or non-
beneficial. The variations which are non beneficial are swept away by
natural selection.

Definition: In genetic variation, the genes of organisms within a population change. Gene alleles
determine distinct traits that can be passed on from parents to offspring. Gene variation is
important to the process of natural selection. The genetic variations that arise in a population
happen by chance, but the process of natural selection does not.

Natural selection is the result of the interactions between genetic variations in a population and
the environment.

The environment determines which variations are more favorable. More favorable traits are thereby
passed on to the population as a whole.

Genetic variation occurs mainly through DNA mutation , gene flow (movement of genes from one
population to another) and sexual reproduction. Due to the fact that environments are unstable,
populations that are genetically variable will be able to adapt to changing situations better than those
that do not contain genetic variation.

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11.1. Hereditary Materials

Are the carriers of the genetic material or information from one generation to
another. The hereditary materials are also known as genes located in the nucleus.
This location of the hereditary materials in the nucleus can be verified by the
following evidences

• Fertilization

During fertilization the nuclei of both male and female fuse to form a zygote. The
characteristics shown by the zygote and hence the resulting individual are the
products of the fusion of the two nuclei. This therefore shows that the nucleus
contains hereditary materials.

• Nuclear division

Meiosis is type of nuclear division which brings about variations. These variations
are controlled by hereditary materials; it is the manipulation of the hereditary
materials in the nuclear that brings about variations. Therefore hereditary materials
are found in the nucleus.

• Removal of the nucleus

The removal of the nucleus from the cell leads to ceasing off all life activities
including heredity. Hence hereditary materials are contained in the nucleus.

Location of Hereditary Materials.

The hereditary materials are located in the chromosomes found in the nucleus of
the cell. Hence chromosomes are carriers of hereditary materials (genes). The
Chromosome is a thread like structure visible in the nucleus of the cell during
nuclear division.

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Evidences for the presence of hereditary materials in the Chromosome.

The chromosomes are not actual heredity materials but are carriers of hereditary
materials, the evidences for this are as shown below.

• Fertilization

During fertilization, the chromosomes of male gamete and female gamete fuse to
form a zygote. The characteristics shown by the produced individual is the result of
chromosomal union. But the chromosomes are the carrier of the hereditary
materials, which determines the genetic constitution of the resulting offspring.

• Mutation

If the chromosomes undergo mutation the phenotype expression of organism

becomes affected.

This implies that the nature and gross structure of the hereditary materials on the
entire chromosome have been affected.

• Nuclear division

During the nuclear division there is equal distribution of the hereditary materials of
the resulting nuclei, but during this process what moves are the chromosomes and
since these are not hereditary material they are said to be carriers of hereditary
materials.

General properties of hereditary materials

• They have special features of carrying genetic information from

generation to generation

• They are chemically composed of sugar, base and phosphoric acid hence
they are acidic in nature.

• They are chemically and structurally similar to all organisms

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 • They are able to replicate, the mistake of which lead to mutations

Chemical constituents of the hereditary material

• Pentose sugar/Ribose sugar; - this is a 5-carbon sugar which is either ribose

or deoxyribose.

• Phosphate group;- this is derived from phosphoric acid and it accounts for
acidic nature of the hereditary materials.

• Nitrogenous bases;-there are five of them namely adenine (A), guanine (G),
cytosine(C), thyamine (T), and uracil(U).

Note; the five nitrogenous bases are categorized into two groups,

• Purine bases, which include adenine and guanine

• Pyrimidines bases, these include thyamine, cytosine and uracil.

Types of hereditary materials

There are two types of hereditary materials depending on the pentose sugar namely

• Ribonucleic acid (RNA)- those containing ribose and

• Deoxyribonucleic acid (DNA)- those containing deoxyribose ( ribose with an

oxygen atom removed from carbon atom number 2)

Ribonucleic acid (RNA)

Ribonucleic acid (RNA) is a linear molecule composed of four types of smaller

molecules called ribonucleotide bases: adenine (A), cytosine (C), guanine (G), and
uracil (U). RNA is synthesized from DNA by an enzyme known as RNA
polymerase during a process called transcription and is mainly found in the
cytoplasm although some of it are found in the nucleus

Chemical nature of RNA

The RNA is chemically composed of the following

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 • Ribose sugar, the five carbon sugar

• Phosphate group, this is derived from phosphoric acid and it gives the
acidic nature of the molecule.

• Nitrogenous bases, these include adenine, guanine, cytosine and uracil.

• Phosphodiester bonds between one nucleotide to another in the strand.

Structure of the RNA

RNA is a single stranded molecule made up of several nucleotides each consists of

a ribose sugar with carbons numbered 1' through 5', a phosphate group attached to
the 3' position of one ribose and the 5' position of the next , and a nitrogenous base
attached to the 1' position.

Adjacent nucleotides in the strand are chemically linked to one another by

chemical bonds called phosphodiester bonds.

The RNA strand has two ends the 5΄ and 3´ as shown below

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 Synthesis of RNA

The Synthesis of RNA is usually catalyzed by an enzyme called RNA polymerase

using DNA as a template, a process known as transcription.

Initiation of transcription begins with the binding of the enzyme to a promoter

sequence in the DNA. The DNA double helix is unwound by the helicase activity
of the enzyme. The enzyme then progresses along the template strand in the 3` to
5` direction, synthesizing a complementary RNA molecule with elongation

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occurring in the 5` to 3` direction. The DNA sequence also dictates where
termination of RNA synthesis will occur

Types of RNA

There are three types of RNA all of which are produced by DNA which acts as a
temperate for RNA production, these includes;-
• Messenger RNA (mRNA)

• Ribosomal RNA (rRNA) and

• Transfer RNA (tRNA)

Messenger RNA (mRNA)

This is the RNA that carries information about a protein sequence coded from
DNA to the ribosome, the sites of protein synthesis (translation) in the cell. This
forms about 3-5% of the total RNA in a cell. The coding sequence of the mRNA
determines the amino acid sequence in the protein that is produced.

It is coded so that every three nucleotides (a codon) correspond to one amino acid.
The mRNA is then exported from the nucleus to the cytoplasm, where it is bound
to ribosomes and translated into its corresponding protein form with the help of
tRNA.

Ribosomal RNA (rRNA)

Ribosomal RNA (rRNA) is the catalytic component of the ribosome that acts as
an attraction sphere of other RNA toward the ribosome during protein
biosynthesis. The rRNA molecules contribute about 80% of the total RNA and
are synthesized in the nucleolus in the nucleus and stored in the cytoplasm. In
the cytoplasm, ribosomal RNA and protein combine to form a nucleoprotein

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 called a ribosome. The ribosome binds mRNA and carries out protein synthesis.
Several ribosomes may be attached to a single mRNA at any time.

Transfer RNA (tRNA)

Transfer RNA (tRNA) is a small RNA that transfers a specific amino acid to a
growing polypeptide chain at the ribosomal site during protein synthesis.

It is the smallest of all types of RNA which constitutes about 15% of the total
RNA of the cell and there are more than 20 different types of tRNA but all of these
have the same basic structure.

Structure of tRNA

Structurally tRNA is a clove leaf-shaped molecule with a 5’ having guanine and a

3’ has a triplet CCA. The nucleotide sequence of the rest molecules is variable and
may have unusual bases such as iosine (I) and pseudo uracil. tRNA is a single
stranded molecules but the strand is folded to form clove leaf shape with hydrogen
bonds holding to bases.

The molecule has a number of active or recognition sites. The upper part
recognizes amino acid attachment, the lower part which is an anticodon region
for codon recognition that binds to a specific sequence on the mRNA chain
through hydrogen bonding, whereas the right part recognizes the ribosome and
the left part recognizes an enzyme, amino acyl-tRNA synthase.

NOTE; An anticodon is a unit made up of three nucleotides that correspond to the

three bases of the codon on the mRNA

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The structure of the tRNA

Deoxyribonucleic Acid (DNA)

This is the hereditary material in organisms, mostly DNA is located in the cell
nucleus (called nuclear DNA), but a small amount of DNA can also be found in the
mitochondria (called mitochondrial DNA or mtDNA).

Chemical nature of DNA

The DNA is composed of the following;

• Phosphate group, which is derived from phosphoric acid and gives the acidic
nature the DNA molecules

• Pentose sugar, the five carbon sugar which is known as deoxyribose

• Nitrogenous bases, of which there are four types includes adenine (A),
cytosine (C), guanine (G), and thymine (T).

• Hydrogen bonds, which holds the complementary paired bases in the two
strands of DNA.

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• Phosphodiester covalent bonds, which links one nucleotide to another in the
DNA strand.

Structure of DNA

• DNA is structurally a double-stranded molecule, with both strands coiled

together to form the double-helix, hence it’s helical in nature.

• Each single strand of DNA is a chain of four nucleotides

• Nucleotides in DNA contain a deoxyribose sugar, a phosphate, and a

nucleobase.

• The four types of nucleotide correspond to the four nucleobases adenine,

cytosine, guanine, and thymine.

• These nucleotides are joined by phosphodiester bonds, creating the

phosphate-deoxyribose backbone of the DNA double helix with the
nucleobases pointing inward.

• Nucleobases are matched between the strands through hydrogen bonds to

form base pairs, where adenine pairs with thymine (two hydrogen bonds),
and guanine pairs with cytosine (stronger: three hydrogen bonds), this is
according to Watson and Crick base pairing rules.

• The strands of the double helix are anti-parallel with one being 5' to 3', and
the opposite strand 3' to 5'.

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 Or

The structure of DNA

Roles of DNA

• It is a carrier of genetic materials from one generation to another

• It directs the cell to synthesis a give type of protein from the available
amino acids

• DNA contains the genetic code that determine the structure and function
of living things

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 • It synthesis the RNA

• It replicates before cell division ensuring constant amount of DNA in all

cells.

Differences between RNA and DNA

S/NO RNA DNA

i. It contains ribose sugar It contains deoxyribose sugar

ii. Single stranded molecule Double stranded molecule

iii. Thymine is never found but uracil is Thymine is there but uracil is never
there found

iv. It is unstable molecule, undergoes easy It stable molecule, the spontaneous

and spontaneous degradation degradation is very too slow.

v. It can be easily destroyed by alkali It resists alkali action due to the absence
due to the presence of OH- group of OH- attached to the pentose ring in the
attached to the pentose ring in the 2' 2' position
position

vi. Mainly found in cytoplasm but also Mainly found in nucleus, extra nuclear
present in the nucleus DNA is found in mitochondria and
chloroplast

vii. It is synthesized from DNA by DNA makes DNA by replication

transcription

viii. There are various types of RNA Is always one type of DNA.
includes mRNA, rRNA, and tRNA.

ix. Many copies of RNA are present per Single copy of DNA is present per cell
cell

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 DNA REPLICATION

DNA replication is the process of producing two identical replicas from one
original DNA molecule. This biological process occurs in all living organisms and
is the basis for biological inheritance.

DNA replication is semi-conservative because each new double helix is composed

of an old parental strand and a new daughter strand.

Mechanism of DNA Replication

• DNA replication begins by the removal of the histone protein covering the
DNA double helix exposing the polynucleotide sequence of the DNA
molecule

• Helicase enzyme Unwinds the DNA and separates the two polynucleotide
strands by breaking the hydrogen bonds between complementary base pairs

• The two separated polynucleotide strands act as templates for the synthesis
of new polynucleotide strands

• New nucleotides, always present in the nucleus, are added into each old
strand by the process of complementary base pairing.

• Free deoxynucleotide triphosphates are aligned opposite their

complementary base partner and are covalently bonded together by DNA
polymerase to form a complementary nucleotide chain

• Synthesis of new strands is bidirectional from the origin, where DNA is read
in 3' to 5' direction and a new strand is synthesized in the 5' to 3' direction

• The new strands are leading strand DNA which grow in the same direction
of the growing replication fork and lagging strand DNA, whose direction of
synthesis is opposite to the direction of the growing replication fork

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 • When the process is completed, the old strand and the new constructed
strand wind up under the influence of the DNA ligase

• Finally two complete DNA molecules are present which are identical to each
other and to the original molecule.

Illustration

Lagging temperate strand

Leading temperate strand

Leading strand

Lagging strand

Note; The leading strand is the strand of nascent DNA which is being synthesized
in the same direction as the growing replication fork whereas The lagging strand is
the strand of nascent DNA whose direction of synthesis is opposite to the direction
of the growing replication fork.

Significance of DNA replication

• It maintains the cell genetic status, since it produces exactly copies DNA
molecules in a cell

• It ensures that all newly produced cells have the same amount of DNA

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 Protein synthesis
This is the process whereby a protein molecule is constructed using amino acid
under the directive given by DNA, which takes place in the ribosome in the
cytoplasm.

Mechanism of Protein Synthesis

The main steps involved in the process of protein synthesis include;

• Transcription;-is the process in which mRNA is transcribed from one of the

DNA strands.

• Translation; - the synthesis of a polypeptide using the genetic information

encoded in an mRNA molecule by tRNA.

Transcription
Is the process by which the base sequence of a DNA temperate strand is converted
into the complementary base sequence of mRNA.

The transcription mechanism is summarized as follows;

• The removal of the histone protein covering the DNA double helix
exposing the polynucleotide sequence of the DNA molecule.

• The DNA double helix unwinds by breaking the hydrogen bonds between
the bases of the two complementary strands under the influence of
helicase enzyme.

• One of the two DNA strand is selected as a temperate for the formation
of a complementary single strand of mRNA.

• The molecule of RNA is formed by the linking of the free nucleotides

under the influence of RNA polymerase and following the base pairing
rules.

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• At the region where transcription has taken place the two DNA strands
``zip up`` to form a double helix molecule.

• When the messeger RNA has been synthesized, leaves the nucleus via the
nuclear pores to the ribosomes in the cytoplasm.

• When sufficient number of mRNA molecules has been formed. The RNA
polymerase leaves the DNA molecule and the two strands zip up again
reforming a double stranded DNA molecules and histone protein is
added.

Translation

Is the process whereby the triplet base sequences of mRNA molecule are
converted into a specific sequence of amino acid forming a polypeptide
chain. In translation, messenger RNA (mRNA) is decoded to produce a
specific polypeptide according to the rules specified by the trinucleotide
genetic code. This uses an mRNA sequence as a template to guide the
synthesis of a chain of amino acids that form a protein

Mechanism of Translation

i. The mRNA from the nucleus attaches on the sub units of the
ribosomes in the presence of Mg2+ ions.

ii. The amino acid in the cytoplasm becomes activated and become
attached themselves to their respective tRNA under the influence of
amino acyl- tRNA synthase, forming amino acid –tRNA complex.

iii. The formed complex is carried to mRNA on the ribosome where the
polypeptide chain initiation step begins with the first amino acid
usually methionine ( coded by AUG, a start code).

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 iv. Once a new amino acid is added on the growing polypeptide chain,
the ribosome moves along the mRNA to enclose a new codon.

v. The tRNA that was carrying the previous amino acid now gets
released back into the cytoplasm where it becomes converted into
tRNA- amino acid complex.

vi. The ribosome continuous to move steadily along the mRNA sequence
to a condon signaling stop, the terminating codons are UUA, UAG
and UGA.

vii. At this point the polypeptide chain leaves the ribosome and protein
synthesis becomes complete.

Summary of the protein synthesis

i. The nucleus contains DNA which codes the message for synthesis of
protein, the message is transcribed from one of the two strands of DNA
to a single stranded mRNA molecule.

ii. The DNA molecule serves as a temperate so that the RNA strand is
complementary to one of the DNA strand.

iii. The mRNA carries the message out of the nucleus to the ribosome in the
cytoplasm, where it attaches itself to the ribosome.

iv. Each of the 20 amino acids are activated by a specific enzyme under the
influence of energy from ATP and tRNA which thus form an amino acid
tRNA complex under the influence of the enzyme amino acyl-tRNA
synthase.

v. Each triplet codon on the mRNA link with complementary anticodon of

tRNA with its attached amino acid.

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 vi. The ribosome moves with tRNA along the mRNA sequence from one
codon to another translating the code and one after another amino acids
are bounded in the growing polypeptide chain, until a protein molecule is
built.

vii. The movement of the ribosome along the mRNA strand continues until
the condon signaling stop is met.

viii. The tRNA is released up and there after it can be used again to bring in a
new amino acid to be added on the growing polypeptide chain.

ix. At the time of releasing the polypeptide chain the protein is said to have
its primary structure which can be processed into secondary, tertiary or
quaternary structure.

Illustration of the protein synthesis process.

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 Genetic Code
The genetic code is a three-letter code defining the transfer of the information
from nucleic acids to proteins.

Three bases are used to code for one amino acid, therefore there 64 different codes
will be coded for this. But there are only 20 amino acids that occur naturally out of
64 different codes, this is because of the following reasons;-

➢ More than one codes mean one amino acid such as the code GCU,
GCC,GCA and GCG all represent an amino acid called alamine (ala)

➢ Some codes are non-sense codes that are do not mean any amino acid such
as UAG, UAA and UGA.

Characteristics of the Genetic codes

i. They are triplet codes, since each contains three bases

ii. They are universal, that is the same triplet code for the same amino acid in
all organisms
iii. They are non-overlapping. For example mRNA sequence beginning with
AGUAGCGCA, this cannot be read as AUG/UGA/GAG/AGC, but it can be read as
AGU/AGC/GCA.

iv. They are degenerate, that is Several codons code for the same amino acid, for example

v. They are punctuated, that is some codes act as full stop is determining the
end of the code message such as AUG, UUA and UGA, whereas some acts
as starting code such as AUG.

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 11.2. Mendelian Principle of Inheritance
The father of genetics is Gregor Johann Mendel (1822-1884), an Austrian monk-
scientist who founded the modern science of genetics. He conducted hybridization
experiments in garden peas (Pisum sativum) which he planted in the backyard of
church. Mendel was looking for the law that governs the passage of characters
from one generation to another. From his experiments, he induced two
generalizations which later became known as Mendel's Principles of Heredity or
Mendelian inheritance.

He investigated inheritance in pea plants and published his results in 1866. They
were ignored at the time, but were rediscovered in 1900, and Mendel is now
recognised as the “Father of Genetics”.

Mendelian Inheritannce
Mendel explained two types of inheritance which are;

i. Monohybrid inheritance and

ii. dihybrid inheritance

1. Monohybrid inheritance
This is the kind of inheritance that involves the passage of only one characteristics
from one generation to another.

The Monohybrid Cross.

This is a simple breeding experiment involving just a single characteristic such as

colour, height and shape. In one of his experiments mendel crossed a tall pea plant
from a pure line short (tt). All the resulting individuals in the first filial generation
were tall. He then selved the members of the first filial generation (F1) among

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themselves and the resulting F2 offspring were are roughly in the ratio of 3 tall: 1
short.

Mendel’s Experiments

Assumptions made by Mendel

• Let the factor for tallness be represented by T and that of dwarfness by t

• Let T dominate t so that when the two are together only T is expressed

• Let each character be controlled by a pair of factors so that they segregate

during gametes formation

EXP.1; Parental phenotype (P1) Pureline Tall x Pureline Short

Parental genotype TT tt

Meiosis T T t t

Random fusion

First Filial Generation (F1) Tt Tt Tt Tt

Phenotype All are Tall no ratio

Genotype All are Tt.

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EXP. 2;

Parental phenotype (P2) Pureline Tall x Pureline Short

Parental genotype Tt Tt

Meiosis T t T t

Random fusion

F2 Generation(F2) TT Tt Tt tt

Phenotype, 3 are tall and 1 is short, phenotypically are in a ratio of 3:1

Genotype, 1 Homozygous tall(TT), 2 are heterozygous tall(Tt) and 1 is short.

Therefore genotypically are in a ratio of 1:2:1,

Observations of Mendel’s

In his experiments above Mendel observed that;

• He observed that organisms (pea plants) inherit traits by way of discrete

"units of inheritance", which are known as gene today

• The factor (gene) for tallness was dominant over that of shortness which
was recessive, hence the factor for tallness failed to be expressed in F1.

• The factor for shortness was present in the F1athough failed to express
itself.

• The tall and the dwarf characteristics remained unchanged, that is there was
no intermediate height.

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 • Each character is controlled by a pair of factor that segregate during
gametes formation, This observation lead Mendel, to the formation of his
first law of inheritance.

Examples

Mendel made several conclusions from these experiments:

i. A characteristic can disappear for a generation, but then reappear the
following generation, looking exactly the same.
ii. The outward appearance (the phenotype) is not necessarily the same
as the inherited factors (the genotype) for example the P1 red
plants(RR) are not the same as the F1 red plants(Rr).
iii. One form of a characteristic can mask the other. The two forms are
called dominant and recessive respectively.
iv. There are no mixed colours (e.g. pink), so this disproved the widely-
held blending theories of inheritance that characteristics gradually
mixed over time.
v. The phenotype ratio of heterozygous cross is always close to 3:1.

Mendel’s First Law of inheritance (Law of Segregation)

This states that “individuals carry two discrete hereditary factors (alleles)
controlling each characteristic and the two alleles segregate (or separate) during
meiosis, so each gamete carries only one of the two alleles”.

Or “During gamete formation, the alleles for each gene segregate from each other
so that each gamete carries only one allele for each gene”.

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Or “An organism characteristics are controlled by internal factors that occur in
pairs, only one pair of such factors can be represented in a single gamete”.

Mendel’s factors are now called genes and the two alternative forms are called
alleles. One allele comes from each parent, and the two alleles are found on the
same position (or locus) on the homologous chromosomes. Thus the
segregation of homologous chromosomes in meiosis is similar to segregation of
mendelian factors inheritance.

Definitions of Some Genetics Terms

i.Gene;-is the functional unit of inheritance

ii.Allele; is one of a pair of alternative form of a gene
iii.Locus; is the position of gene in the chromosomes
iv.Dominant allele;- is the one which express itself in the heterozygous condition
v.Recessive allele; is the one which fail to express itself in heterozygous state
vi.Homozygous; is the possession of identical alleles that control a character eg
TT, RR, rr, tt or hh
vii.Heterozygous;- is the possession of non-identical alleles that control a character
such as Tt, Rr
viii.Monohybrid cross;- a breeding process that show contracting variation of only
one characteristics
ix.Segregation;- is the separation of genes and their movement during gamete
formation
x.Pureline;- is the stock which on self crossing continue to show the same
character
xi.Genotype;-is the genetic constitution of an organism

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xii.Phenotype;- external expression of an organism of what can be seen, measured
and estimated. Normally phenotype is controlled by a genotype and the
environment.

Methods of Solving Mendelian Problems

There are three ways of solving genetic problems

➢ Algebric method
➢ Punnet square method
➢ Mendelian cross

Consider a cross between two heterozygous tall plants

i. Algebric method gives the following

Parental phenotype tall x tall
Parental genotype Tt Tt
Meiosis T t T t
Random fusion; F1 T2 +2Tt +t2 ;
Genotypic ratio 1TT:2Tt:1tt and the phenotypic ratio is 3:1
ii. Punnet square method gives the same results as shown below
Male T t The genotype ratio is 1TT:2Tt:1tt and the phenotypic
Female ratio is 3:1.
T TT Tt

t Tt tt

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 iii. Mendelian cross
Parental phenotype tall x tall
Parental genotype Tt Tt
Meiosis T t T t
Random fusion;

F1 generation TT Tt Tt tt

Genotypic ratio 1TT:2Tt:1tt and the phenotypic ratio is 3:1

Examples

1. In orange plants, the gene for red flowers is dominant over the gene for
white flowers. Give the genotype ratio expected when
(a) A homozygous red flowered plant was crossed with a white flowered
plant.
(b) The products of the cross in (a) above are
i. Crossed among each other
ii. Propagated vegetatively
2. In squash gene for white colour is dominant over its allele for the for yellow.
If the pollen from the anther of the heterozygous white flowered squash
plant is placed on the pistil of a yellow flowered plant. Show using ratios of
genotype and phenotype ratios you would expect the seeds from this cross to
be produced.

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The Back cross and Test Cross

a) The Back cross

Is the cross between offspring individual and its either parents.

b) Test Cross

Test cross;- is a cross between an experimental organism with the ressive

phenotype in order to determine the genotype.

You can see an individual’s phenotype, but you can’t see its genotype. If an
individual shows the recessive trait then they must be homozygous recessive as it’s
the only genotype that will give that phenotype. If they show the dominant trait
then they could be homozygous dominant or heterozygous. You can find out this
by performing a test cross with a pure-breeding homozygous recessive. This gives
two possible results:

• If the offspring all show the dominant trait then the parent must be
homozygous dominant and,

• If the offspring are a mixture of phenotypes in a 1:1 ratio, then the parent
must be heterozygous.

Example:

Consider a plant with red flowering . How do you know whether the genotype is
RR or Rr.

Solution:

The only way is to test cross the plant with a homozygous recessive (white
flowered plant) in the results obtained will give the information we seek.

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Thus

✓ If all the resulting individuals are red flowered. The genotype is RR as the
cross below reveals

Red x white

RR rr

Test cross progeny ALL are red (Rr)

✓ If the genotype of the resulting individual will be a mixture of red and white
in the ratio of 1:1. Then the genotype of the experimental plant is Rr as the
cross below reveals;-

Red x white
Rr rr
R r r r

Rr Rr rr rr

The test cross progeny 2 are red (Rr) and 2 are white , hence are in a ratio of 1:1.
Sex Determination

Sex is determined by the sex chromosomes (X and Y). Since these are non-
homologous they are called heterosomes, while the other 22 pairs out of 23 are
called autosomes. In humans the sex chromosomes are homologous in females
(XX) and non-homologous in males (XY).

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The inheritance of the X and Y chromosomes can be demonstrated using a
monohybrid cross:

This shows that there will always be a 1:1 ratio of males to females. Note that
female gametes (eggs) always contain a single X chromosome, while the male
gametes (sperm) can contain a single X or a single Y chromosome.

Sex is therefore determined solely by the sperm.

Sex Linkage
Is a condition that occurs when certain genes are inherited together with sex
chromosomes. The resulting traits are called sex linked characters, which are
carried by X, because Y chromosome is very small and short to carry extra genes
compared to X chromosome which is large to carry extra genes for important
products such as rhodopsin, blood clotting proteins and muscle proteins.

Examples of sex-linked characters

➢ Haemophilia
➢ Colour blindness
➢ Premature balding
➢ Muscular dystrophy and
➢ Eye colour in Drosophila melanogaster

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 1. Haemophilia

Is the genetical disease in which the blood either delays or fail to clot even after a
minor injuries. This condition is caused by lack of clotting factors needed in the
blood for the formation of thrombokinase enzyme whose function is to activate
blood cloting. It’s a sex linked trait carried by X chromosomes being controlled by
recessive allele.
Example;

Work out the type of children expected when a carrier female for haemophilia
marries with a normal man.

Solution

Let; H-normal allele

h- haemophilic allele

Parents male X female

Genotype XHy XHXh

Meiosis XH y XH Xh

F1 XHXH(normal) XHXh (carrier) XHy(normal) Xhy (haemophilic)

The resulting children are;-

i. All girls are normal but 50% are carriers

ii. 50% of boys are haemophilic and 50% are normal

Conclusion;

From the above it can be concluded that

i. A boy inherits sex linked traits from his mother and a girl inherits from
either of the parents

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 ii. The y- chromosome does not bear any extra genes, hence no sex-linked
characters are caused by inheriting a y- chromosomes.

Qn; Explain why are the haemophilic females are rare in nature?. Give atleast
three reasons.

2. Red –Green colour blindness

This is a failure to distinguish red colour from green colour. It is a sex-linked trait
inherited in the same pattern as haemophilia and is controlled by recessive alleles
carried on the X- chromosomes. In humans population there are about 8% of
males who are colour blind, but only 0.7% of females why?.

Example; Consider the diagram below shows two crosses involving colour
blindness.

Let XR stand for the dominant allele (normal rhodopsin,) and Xr for the recessive
allele (non-functional rhodopsin).

Thus

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 3. The eye colour in Drosophila fruit flies.

Red eyes (R) are dominant to white eyes (r) and when a red-eyed female is crossed
with a white-eyed male, the offspring all have red eyes, as expected for a dominant
characteristic . Note that in this cross the alleles are XR for (red eyes) and Xr for
(white eyes) to show that they are on the X chromosome.

Males always inherit their X chromosome from their mothers, and always pass on
their X chromosome to their daughters.

PEDIGREE ANALYSIS

The pedigree or genetical chart; is a sequantial arrangement of individuals that are

closely related showing the passage of certain traits, especially of family diseases
such as hemophilia.

In the pedigree analysis the first organism to be recognized as carrying the

character of interest is known as propositous an from this individual the character
is traced back to the past generation and a chart is constructed.

In the pedigree, the circles represent female whereas the square represent male.
The shaded figure shows that the character is expressed whereas open figures
shows the effect is not expressed.

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 The following is the sample.

Examples
1. Study the pedigree shown below. The circles represent females, squares
represents males, open figures normal phenotype and shaded figures show
colour blind individual.

1 2

3 4 5 6

7 8 9 10

i. What is the genotype for 1

ii. What are possible genotypes for 5 and 9

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 iii. If 8 marries a normal man, what are the chances that she will be have
a colour blind son?
2. Colour blindness is an autosomal recessive defect. Refer to the following of
key and study the pedigree of a family affected by colour blindness.

Normal female Normal male

Carrier female colour blind male

Parents

1 2

F1

3 4 5 6
a) Make the continuation of the pedigree to show the distribution of the
gene among the F2
offspring assuming 3 and 5 marry individuals with normal chromosomes
b) What are the chances that a carrier gland child F2 will have a colour blind
son if she marries.
i. A normal man
ii. A colour blind man?, Show how you derive your answer.

2. DIHYBRID INHERITANCE

This is the type of inheritance that involves two different characters are being
inherited at a time.

The Dihybrid Cross

This is the breeding process which involves two traits inherited at a time. The two
traits Mendel studied are seed shape and seed colour.

Where Round seeds (R) are dominant to wrinkled seeds (r), and yellow seeds (Y)
are dominant to green seeds (y).

With these two genes there are 4 possible phenotypes as shown below:

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 Genotypes Phenotype

RRYY, RRYy, RrYY, RrYy round yellow

RRyy, Rryy round green

rrYY, rrYy wrinkled yellow

Rryy wrinkled green

In one of one of his experiments Mendel crossed a round yellow seeds plant with the wrinkled
green seeds plant. All the resulting F1 had round yellow seeds. When the F1 plants were
selfed the resulting F2 progeny showed four phenotypes as shown below;

315 has round yellow seeds

101 has wrinkled yellow seeds

108 has round green seeds and

32 has wrinkled green seeds

These numbers represent an approximate ratio of 9:3:3:1 for four phenotypes and this is the basic
dihybrid ratio. This ratio is the product of two monohybrid ratios of F2 generation. That is the
product of (3:1) and (3:1) is 9:3:3:1

Illustrations of the Dihybrid cross

Consider a cross between the two plants

Let; R- Allele for round seed and r- Wrinkled seed

Y-Yellow seed and y- Green seed

The round yellow pea plant was crossed with a wrinkled green pea plant.

Punnet square to show the fusion of the gamete

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 gamete RY Ry rY ry

gamete

RY RRYY RRYy RrYy RrYy

Round yellow Round yellow Round yellow Round yellow

Ry RRYy Rryy RrYy Rryy

Round yellow Round green Round yellow Round green

rY RrYY Rryy rrYY rrYy

Round yellow Round green Wrinkled yellow Wrinkled yellow

ry RrYy Rryy rrYy rryy

Round yellow Round green Wrinkled yellow Wrinkled green

From the chart it was observed that there are;-

o 9 round yellow
o 3 round green
o 3 wrinkled yellow
o 1wrinkled green

All 4 possible phenotypes are produced, but always in the ratio 9:3:3:1.

Mendel was able to explain this ratio if the factors (genes) that control the two
characteristics are inherited independently.

Mendel’s observation on dihybrid cross

In the experiments involving dihybrid crosses mendel realized that during gamete
formation in each sex either one pair of alleles may enter the same gamete cell with
either one or another pair. This observation leads Mendel to the formulation of his

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second law of inheritance which is commonly known as Law of independent
assortment.

MENDEL’S SECOND LAW

This states “that alleles of different genes are inherited independently”. Or “any
one of a pair of characteristics may combine with either one of another pair”

Explanation of Mendel’s second law

During gametes formation the distribution of each allele form a pair of homologous
chromosomes is completely independent to the distribution of the alleles of other pairs.
Therefore gametes have one allele of each gene, and that allele can end up with either allele of
the other gene.

This is brought about by random alignment of homologous chromosomes on the equatorial

region during metaphase I and their subsequent separation in anaphase I that lead to the several
allele combination in the gametes.

Dihybrid Test Cross

This is breeding process that involves crossing an experimental organism with a

double recessive phenotype organism.
For example in the Mendel’s dihybrid cross,there are 4 genotypes(RRYY, RRYy,RrYY and
RrYy) that all give the same round yellow phenotype. These four genotypes can be distinguished
by crossing with a double recessive phenotype(rryy), which gives four different results as
summarized below:

Original genotype Result of test cross

RRYY all round yellow

RRYy 1 round yellow : 1 round green

RrYY 1 round yellow : 1 wrinkled yellow

RrYy 1 round yellow : 1 round green: 1 wrinkled yellow: 1 wrinkled green

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 Mendel’s third Law (Law of Dominance)

Mendel's Law of Dominance states “that recessive alleles will always be masked
by dominant alleles”.

Therefore, a cross between a homozygous dominant and a homozygous recessive

will always express the dominant phenotype, while still having a heterozygous
genotype.

Merits and Demerits of Mendel’s work.

Merits

The only success that is seen in the Mendelian work is that he succeeded to explain and show
how characters are inherited from generation to generation in sexually reproducing diploid
organisms.

Mendel succeeded in his work where others had failed due to the following reasons;

• He investigated simple well-defined characteristics (or traits), such as flower colour or

seed shape, and he varied one trait at a time.

• He used pea plants which were easy to observe any change.

• He paid attention at one character at a time

• He was torelant to his work

• He used pea plant whose sexual reproduction, he could easily control by carefully
pollinating stigmas with pollen using a brush. Peas can also be self-pollinated, allowing
self crosses to be performed.

• He expressed his results numerically and subjected them to statistical analysis. His
method of data analysis and his large sample size gave credibility to his data

• He performed "test crosses" to reveal the presence and proportion of recessive characters

Demerits

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 Most of the Mendel’s weakness are partly due to lack of cytological
knowledge, such weakness include the following;

i. Considered only dominance- recessiveness pattern of inheritance, but

not all characters are inherited in this fashion.
ii. His genetics does not cover ALL organisms, because he explained
only the genetics of the diploid sexually reproducing organisms.
iii. He did not consider mutation, gene interactions and lethal gene
iv. Not all time the alleles will assort independently, sometimes the is
linkage of alleles.

NON-MENDELIAN INHERITANCE

These are inheritance of traits which were not explained in the Mendel’s work, and
they are sometimes referred as factors interfering with Mendelian basic ratios. This
includes

i. Co dominance
ii. Gene interaction
iii. Multiple allele inheritance and
iv. polygenes

1. Co dominance
Co dominance or incomplete domance or partial domance inheritance;- is the apparent failure of
an allelic gene to dominate the other such that when the two are together the resulting individuals
has a characteristic intermediate between the two parental characters.

EXAMPLES

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 1. A good example of codominance is flower colour in snapdragon plants. The flower
colour gene C has two alleles: C R (red) and CW (white). The three genotypes and their
phenotypes are:
Genotype Phenotype

homozygous RR Red

homozygous WW White

heterozygous (RW) Red

Consider the following two crosses, where the first cross is between red flower against white
flower and the second is between the F1 offsprings.

The F2 phenotype ratio is 1red: 2 purple: 1white and the genotype ratio is 1RR:
2RW: 1WW.

Note that co dominance is not a real challenge to Mendel’s work because the
original phenotypes disappeared in the F1generation, reappears in the F2 generation
as in Mendel’s experiment of pea plants involving height where the gene for

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dwarfness disappeared in F1 but reappeared in F2. Hence they still obey Mendel’s
law of segregation the deviation on the F2 ratio where the Medelian phenotype
ratio is 3:1 but of co dominance is 1:2:

Example

A genetist whos was verifying mendel’s first and second laws of inheritance
crossed 45 homozygous red flowered plants with 45 homozygous white flowered
plants. The results of F1 offspring were 530 plants all with pink flowers. He then
selfed the 530 pink flowered plants. The seeds obtained were planted and the F2
offsprings were obtained with the following phenotypes.

1292 plants with red flowered

2590 plants with pink flowered

1290 plants with white flowered

i. Illustrate using symbols the crosses made and the results obtained in the
above described experiments
ii. What is the name given to the mode of inheritance of the flower colour
exhibited in the above experiments
iii. How to the above observations differ from the results of Mendel’s work that
led him to formulate his first and second laws of inheritance?
iv. Describe the genetical test you would carry out to prove wthether or not the
pink flower colour in the above experiment is a time deviation from
mendel’s principles of inheritance.

2. Gene Interaction

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This is a situation where two or more genes interact with one another to bring about a certain
characteristic. There are many situation in genetics where genes interact resulting into
phenotypic characteristics in organism.

i. Complementary gene

ii. Epistatic gene

iii. Collaborative genes

i. Epistatic gene

Epistasis is a phenomenon in which two interacting genes controlling one characteristic.

In epistasis, two genes control a single character, but one of the genes can mask the effect of the
other gene. A gene that can mask the effect of another gene is called an epistatic gene. Complete
dominance at both gene pairs; however, when one gene is homozygous recessive, it hides the
phenotype of the other gene

Note; This is a little bit like dominant and recessive alleles, but epistasis applies to two genes at
different loci. Epistasis reduces the number of different phenotypes for the character, so instead
of having 4 phenotypes for 2 genes, there will be 3 /2.

Example. In guinea pig the gene for production of melanin pigment is epistatic to that for the
deposition of melanin pigment. The first gene have two alleles”c” for production of melanin and
“C” for non- production of the pigment. Hence the homozygous CC is albino. The second gene
has allele “B” that cause deposition of much melanin pigment which give a guinea pig black coat
and an allele “b” that cause deposition of moderate amount of melanin pigment that gives the
guinea pig a brown coat.

Neither B nor b can cause the deposition of melanin if “c” is not present to make the melanin.

Illustration

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 Black pig x albino

ccBB CCbb

All F1 will be black (CcBb) pigs

The F1 individuals were are selfed as follows

Black CB Cb cB cb

Black

CB CCBB CCBb CcBB CcBb

Cb CCBb CCbb CcBb Ccbb

cB CcBB CcBb CcBB ccBb

cb CcBb Ccbb ccBb ccbb

From the above chart the following was observed

➢ 9 were black,( 3CcBB ,4CcBb and 2ccBb)

➢ 3 were brown ( 2Ccbb and ccbb)
➢ 3 were albino (CCBB and 2CCBb) and
➢ 1 was albino (CCbb).

Therefore the phenotype ratio is 9:3:4, with the albinos being combined together,
deviating from the normal dihybrid ratio of 9:3:3:1.

ii. Collaborative gene

Sometimes two genes influencing the same character interact to produce single
character phenotype that neither gene along could produce such phenptype.

Example; Collaborative gene interaction is seen in chicken controlling the combs.

The alleles “R” produce a rose comb, while its recessive “r” produces a single

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comb. Another allele “P” produces a pea comb while its recessive “p” produces a
also single comb. When the “R” and “P” interact, they collaborate to produce a
walnut comb, a type that neither of the two could produce alone.

Consider the following genotypic attribute of chicken comb

Phenotype Genotype

Rose RRpp or Rrpp

Pea rrPp or rrPP

Single rrpp

Walnut RRPP, RrPP or RrPp

Consider a cross between a rose and pea combined chicken

Parents RRpp X rrPP

F1 All are walnut comb chicken (RrPp)

F1 Were selfed RrPp X RrPp

F2 9 R-P-,(walnut), 3R-pp(rose), 3rrP-(pea), 1rrpp(single)

This forms the cross it seems that at each generation there ie emergency of a new phenotype not
present in the previous generation.

iii. Complementary genes

These are two genes present on separate gene loci that interact together to produce
dominant character, neither of them if present alone, can expresses itself. It means
that the genes are complementary to each other.

Example; In the sweat pea purple flowers develop as a result of interaction of two
dominant alleles “C” and “P” from different loci. In the absence of dominant allele
“C” or “P” or both, the flower is white. In this case allele “C” produces an enzyme
that catalyzes the formation of necessary raw material for purple pigment

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formation and allele “P” produce enzyme which transforms the raw material into
the purple pigment.

Consider a dihybrid cross between a purple flowered plant (CCPP )and a

white flowered plant(ccpp). All F1 offspring will be purple flowered plants with a
genotype of CcPp. When the F1 offspring were selfed the resulting F2, 9 were
purple and 7 were white as shown below

From the above chart the following is observed

➢ In this cross there only two phenotypes, that is purple and white in a ratio of
9 Purple flowered : 7 White flowered , which is a quite different ratio from
normal dihybrid ratio of 9:3:3:1 expected . This is due to the fusion of the
last three phenotypic classes of the normal 9:3:3:1.

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 3. Multiple Alleles inheritance

Multiple alleles;-are those when occur together they produce an intermediate

phenotype characteristic different from the original one although each of these
have their dominant characters.

Note;- Normally an individual has two copies of each gene, so can only have two
alleles of any gene, but there can be more than two alleles of a gene in a
population.

An example of multiple allele inheritance is ABO blood groups in humans. From

ABO blood system there are four blood groups namely A, B, AB and O. The
grouping of blood on this system is determined by two factors which are Antigens
found in the red blood cells and Antibodies found in the plasma. There are two
types of antigens namely antigen A and antigen B, likewise there are types of
plasma antibodies namely antibody α and antibody β. However antigen A and
antibody α are antagonistic to one another as do B and β, when the two occurs
together coagulation of red blood cell occurs. Thus harmoniously A stays with β
and B stay with α. The cellular antigen determine the blood type as shown in the
table below,

Cellular antigen in RBC Plasma antibody Blood group

A β A

B α B

AB Nil AB

Nil Α and β O

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Blood transfusion
This is the transfer of blood from one animal to another of either the same or
closely related species. The animal which gives blood is known as a Donor and
that which receives blood is known as Recipient. Before blood transfusion the
sample from donor’s blood is added to the sample of the recipient’s blood to check
for their compatibility.

If the red blood cells of the recipient coagulate with the red blood cells of the
donor, then the two blood samples are incompatible and that transfusion is not
allowed the opposite is ok.

Consider a transfusion chart below

Donor

Aβ Bα AB Oαβ

Aβ ✓ X ✓

Recipient Bα X ✓ X ✓

✓ ✓ ✓
AB ✓

Oαβ X X X ✓

From the chart above it seems that a person with group O is a universal donor because of lack of
antigens that may be attacked by the antibodies of the recipient’s blood. Group AB is a universal
recipient because of lack of antibodies to react with the antigen of the donor’s blood.

Inheritance of blood Groups

The inheritance of blood groups is coded for by the gene I ( Iso haemaglutinogen), which is
controlled by three alleles IA, IB and IO and it follow the normal Mendelian fushion. Where IA
and IB are co dominant, while IO is recessive. The possible genotypes and phenotypes are:

Phenotype(blood group) Genotypes antigens on red blood cells plasma antibodies

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 A IAIA, IAIO A β

B IBIB, IBIO B α

AB IAIB A and B none

O IOIO none βα

The cross below shows how all four blood groups can arise from a cross between a
group A and a group B parent.

Examples
1. A woman of blood type A claims that the man of blood type B is a father of her child.
The blood testing reveals that the child is of blood type O. How far the woman’s clams
are valid?
2. Two born babies were accidentally mixed up in the hospital. Blood testing reveals baby
1 had blood group O and baby 2 had a blood group A.
Where; Both Mr. and Mrs. Aron had blood group B
Mr. Joshua had a group A and Mrs. Joshua had blood group AB.
Using this evidence alone, determine which baby belongs to which parents. Show by
genetic diagrams or otherwise how you arrived at your conclusion.

Human Blood Rhesus Factor (Rh- factor)

The rhesus factor; is an antigen that exists on the surface of red blood cells in most people. It was
derives its nature from the rhesus monkey. People who have the Rhesus factor are considered to
have a "positive" (Rh+) blood type, such as A+, B+, O+ and AB+ and those who don't are

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considered to have a "negative" (Rh-) blood type, such as A-, B-, "O-" or "AB-." The Rh+ is
dominant over Rh-.

The genotypes of these two phenotypes are as shown below

phenotype Genotype

Rh+ Rh+Rh+ or Rh+Rh-

Rh- Rh-Rh-

Rhesus factors and blood Transfusion

Apart from cellular antigen of the donor’s blood and plasma antibodies of the
recipient’s blood, the blood transfusion also consider the Rhesus factor.

Consider the cases below

Donor Recipient 1st transfusion 2nd transfusion conclusion

✓ ✓
Rh+ Rh+ ✓

Rh+ Rh- ✓ X X

✓ ✓
Rh- Rh+ ✓

✓ ✓
Rh- Rh- ✓

Explanation
If the blood of Rh+ is mistakenly and given to that of Rh- for the first time will have no trouble.
However in this transfusion the Rh+ will stimulate the recipient body to synthesize the Rh+
antibodies. If the same person suffer from the same problem and the same Rh+ blood is given for
the second time there will be problems, since the synthesized antibodies of the recipient will
attack the introduced antigens of the donor as a result of which red blood cells of the two
samples dump in the recipient body causing death.

Medical importance of Rh- factor

The medical importance of Rh-factor is seen when we consider the case of married couple. If the
Rh+ man marries the Rh- woman, this marriage results into problems.

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 The problem arises when the Rh- mother conceive a Rh+ feotus and if blood seepage
from the fetal circulatory system into the mother's blood, which often happens in such situations,
the mother's body may respond as if it were allergic to the baby. The introduced fetal Rh+ will
stimulated to start synthesizing Rh+ antibodies. The first pregnancy will have no problem and
thus the child will be born okay, but the synthesized antibodies may cause trouble in the
subsequent pregnancies if seepage of blood happens again the mother Rh+ antibodies may cross
the placenta and attack the baby’s blood. Such an attack breaks down the fetus’s red blood cells,
creating anemia and the foetus may die just prior or after birth due to a disease known as
erythroblastolis fetalis.

Qn; 1. A woman of a child bearing age requires a blood transfusion before she had any child.
Blood testing reveals that she is of blood type A- and married with a man of blood type B+.
From which blood groups can she successfully be give blood?.

ANS; The only blood group from which the woman will get blood successfully are A- and O-,
any deviation from this such as giving A+ or B+ will sensitizes the woman’s blood to
synthesize Rh+ antibodies. The latter may cause Rh-disease to the Rh+ embryo in the first
pregnancy.

2. Is it all the time that when the feotus Rh+ and the mother Rh- the rhesus disease occurs?

ANS; It is not all the time that such combination will lead to rhesus disease, this happens if;-

➢ There is a seapage of blood from the feotus to the mother

➢ The Rh+ antibodies responsible for the disease are present

4. Polygenes

Sometimes two genes at different loci (i.e. separate genes) can combine to affect
one single characteristic.
A more complex example of a polygenic character is skin colour in humans.

Albinism in humans (from the Latin albus, "white"; see extended etymology, also called
achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete
or partial absence of pigment in the skin, hair and eyes due to absence or defect of tyrosinase, a
copper-containing enzyme involved in the production of melanin. It is the opposite of melanism.

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Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates,
including humans. While an organism with complete absence of melanin is called an albino an
organism with only a diminished amount of melanin is described as albinoid.[3]

Albinism is associated with a number of vision defects, such as photophobia, nystagmus and
amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies
in the transportation of melanin granules. This also affects essential granules present in immune
cells leading to increased susceptibility to infection

Most people with albinism are sensitive to sun exposure and are at increased risk of developing
skin cancer.

lbinism is caused by a defect in one of several genes that produce or distribute melanin (natural
pigment). The defect may result in the absence of melanin production, or a reduced amount of melanin
production. Albinism is inherited and requires the defective gene to be passed down by both parents.

Albinism in humans; is a congenital disorder characterized by the complete or partial absence of

pigment in the skin, hair and eyes

Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates,
including humans. While an organism with complete absence of melanin is called an albino an
organism with only a diminished amount of melanin is described as albinoid.

Effects of albinism

➢ Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.

There are 5 main categories of skin colour (phenotypes) controlled by two genes at different loci.
The amount of skin pigment (melanin) is proportional to the number of dominant alleles of either
gene:

Phenotype
Genotypes No. of dominant alleles F2 ratio
(skin colour)

Black AABB 4 1

Dark AaBB, AABb 3 4

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 Medium AAbb, AaBb, aaBB 2 6

Light Aabb, aaBb 1 4

White (albino) aabb 0 1

• Some other examples of polygenic characteristics are: eye colour, hair

colour, and height.

Qn; NECTA 2004 P2 qn 8.

11.4. Mutation
Mutation is a permanent sudden unpredictable changes that occur in the chromosomes or genes
that alter the genetic makeup as well as phenotype of an organism. An organism that has
undergone mutation is known as mutant and the substance that cause mutation is called
mutagenic agent or mutagen.

The mutation can occur in the gamete cells or somatic cells. The mutation that occurs in gametes
cells will be inherited from one generation to another where as those produced in somatic cells
are only inherited by the daughter cells produced by mitosis.

Causes of Mutation
There are many causes of mutation which includes

➢ Errors introduced during DNA repair

➢ Error during proofreading by DNA polymerase during DNA replication Exposure to
chemicals such as DDT, formaldehyde, hydroxylamine, N-ethyl-nitrosourea, ethidium
bromide alter the hydrogen bonding patterns often by interfering with the structure

of base-pairing,
➢ Exposure to electromagnetic radiations such as X-rays, Ȣ rays and Ultraviolet that can
causing damage to the DNA structure
➢ Exposure to the atomic bombs

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Types of Mutation

There are two types of mutation includes

1. Gene mutation and

2. Chromosome mutation
Gene Mutation

A gene mutation is a permanent change in the DNA sequence that makes up a gene
at a single locus. Since this mutation affects a single locus then it is referred as
point mutation. This mutation is not easily noted in the phenotype and it can be
passed through several generations without expressing itself phenotype.

Gene mutation results from a change in the base sequence of the gene in a
particular region of chromosomes.

Forms of gene Mutation

There are several forms of gene mutation involving the addition, loss or
rearrangement of the nitrogenous base sequence in a gene, these includes;-
i. Substitution; this is when one or more correct nucleotides are exchanged with the
incorrect ones in the gene sequence.
ii. Insertion; an extra nucleotide is plunged in the correct sequence ogf the gene.
iii. Deletion; a correct nucleotide is omitted from the sequence
iv. Inversion; two nucleotides may be inverted wrong way round

Genetic Disorders due to gene mutations

There are several genetic disorders due to gene mutation, but the most common
one is a human sickle cell anemia

This is an example of base substitution which affects gene involved in the

production of haemoglobin. In the case amino acid valine is substituted for glutaric
acid. As a result of this instead of developing normal haemoglobin “A” there is
development of abnormal haemoglobin “s”. This cause a red blood cell to be in a
sickle or crescent shaped and its Hb is unable to carry sufficient amount of oxygen.

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Therefore the gene for haemoglobin Hb has two codominant alleles HbA (the
normal gene) and HbS (the mutated gene). There are three phenotypes:

HbAHbA Normal. All haemoglobin is normal, with normal red blood cells.

HbAHbS Sickle cell trait. 50% of the haemoglobin in every red blood cell is normal, and 50% is abnormal.
The red blood cells are slightly distorted, but can carry oxygen.

HbSHbS Sickle cell anaemia. All haemoglobin is abnormal, and molecules stick together to form chains,
distorting the red blood cells into sickle shapes. These sickle red blood cells are destroyed by the
spleen, so this phenotype is fatal.

The homozygous recessive individual HbSHbS suffers from sickle cell anemia is
vulnerable to death. This is thus a lethal or deleterious combination of alleles.
Lethal gene;- is the recessive gene which when in homozygous condition leads to
death of the organism containing it. Consider the cross between the two carrier
individuals (As) of sickle cell.

Female

Cross A s

Male A AA As
s As ss

From the cross above 3 out of 4 are normal and 1(ss) is a victim of sickle cell
inherited lethal gene, hence the latter dies during embryonic stage.

2. Chromosomal mutation
A chromosome mutation is an unpredictable change in number or gross structure
of a chromosome . These changes are most often brought on by problems that occur
during meiosis or by mutagens Chromosome mutations can result in changes in the
number of chromosomes in a cell or changes in the structure of a chromosome.
Unlike a gene mutation which alters a single gene or larger segment of DNA on a
chromosome, chromosome mutations change and impact the entire chromosome, since the
structure of the chromosome is effected, then this mutation is also known as chromosomal
abrerration.
Their effects are easily noted in the phenotype of individual and they can be seen under
the microscope.

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 A chromosome mutation that causes individuals to gain or lose single number of
chromosomes is termed aneuploidy whereas a chromosome mutation that results in individuals
with more than one haploid set of chromosomes in a cell is termed polyploidy.

Aneuploid cells occur as a result of chromosome breakage or nondisjunction errors that happen
during meiosis which includes:-
i. Klinefelter syndrome (XXY); This result when the XX chromosomes of the female fail
to separate during gamete formation. The result is that they will be inherited together and
the result individual will have 47 chromosomes. The individual is male with female
secondary sexual characteristics
Characteristics of klinefelter
➢ Unfertile because sperm are never produced, although erection and
ejaculation is possible
➢ Development of breast
➢ Sharp voice
➢ Long legged body
➢ Little facial hair
ii. In Turner syndrome;(XO) (Monosomy); This is the female chromosome abrerration in
which an individual lacks secondary sexual features. The individual is a female having
only one X sex chromosome.
Characteristics of Turner syndrome
➢ Infertile because ovaries are absent and no sex organs
➢ Shortness of stature
➢ Webbed neck may occur
➢ No menstruation and small uterus
iii. Triplet syndrome; XXX, (Meta female)
Characteristics of Tript syndrome
➢ Very beatiful in appearance
➢ Taller
➢ May give birth and
➢ Mental retarded

iv. Down syndrome is an example of a condition that occurs due to

nondisjunction in autosomal (non-sex) cells. Individuals with Down
syndrome have an extra chromosome on autosomal chromosome 21. This
genetic disorder, which varies in severity, causes lifelong intellectual
disability and developmental delays, and in some people it causes health
problems.

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 11.5. Genetic Engineering.

Genetic engineering is any process by which genetic material (the building blocks
of heredity) is changed in such a way as to make possible the production of new
substances or new functions.

or Genetic engineering is a process in which recombinant DNA (rDNA)

technology is used to introduce desirable traits into organisms. A genetically
engineered (GE) animal is one that contains a recombinant DNA (rDNA) construct
producing a new trait. While conventional breeding methods have long been used
to produce more desirable traits in animals, genetic engineering is a much more
targeted and powerful method of introducing desirable traits into animals

Genetic engineering procedures

Genetic engineering requires three elements:

➢ The gene to be transferred,

➢ A host cell into which the gene is inserted, and
➢ A vector to bring about the transfer.

The process of genetic engineering or recombination DNA technology involves the following
techniques.

i. Splitting of the DNA into smaller sections. This involves the use of enzymes called
restriction endonuclease which act only between base sequences on the DNA.
ii. Copying the required DNA section. This involves the use of an enzyme DNA
transcriptase which can synthesize DNA from the relevant mRNA and the
synthesized DNA is called copy DNA(cDNA)
iii. Join together the portions of DNA. This involves the use of DNA ligase which carries
out the linking of the DNA portions involved in the process.

Example

Suppose, for example, that one wishes to insert the gene for making insulin into a bacterial cell.
Insulin is a naturally occurring protein made by cells in the pancreas in humans and other
mammals. The following steps are followed

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 ➢ Obtain a copy of the insulin gene. This copy can be obtained from a natural source
(from the DNA in a pancreas, for example), or it can be manufactured in a laboratory.
➢ Insert the insulin gene into the vector. The most common vector used in genetic
engineering is a circular form of DNA known as a plasmid.
➢ Insert the hybrid plasmid now contains the gene whose product (insulin) is desired into
the host cell, where it begins to function just like all the other genes that make up the cell.
In this case, however, in addition to normal bacterial functions, the host cell also is
producing insulin, as directed by the inserted gene.

Applications of genetic engineering

The possible applications of genetic engineering are virtually limitless includes

i. Production of more improved plants and animals to increase production

ii. Synthesis of hormones such as insulin, and human growth hormone
iii. Synthesis of factor VIII (needed by hemophiliacs for blood clotting)
iv. Production of interleukin-2 (for the treatment of cancer), and erythropoietin (for the
treatment of anemia)
v. Production plants that are resistant to herbicides and freezing temperatures

Pros/ Advantages of Genetic Engineering

➢ Used to improve better food taste.

➢ Engineered seeds are resistant to pests and can survive in relatively harsh
climatic conditions.
➢ Applied to slow down the process of food spoilage. It can thus result in fruits
and vegetables that have a greater shelf life.
➢ The genetic modification of foods can be used to increase their medicinal
value, thus making homegrown edible vaccines available.
➢ Modification of genetic traits in humans. The process can be used to
manipulate certain traits in an individual.
➢ Boost positive traits, and suppress negative ones. Genetic engineering can be
used to obtain a permanent cure for dreaded diseases.

Cons of Genetic Engineering

➢ Genetic engineering in food involves the contamination of genes in crops.

➢ Undesirable genetic mutations can lead to allergies in crops.
➢ Genetic engineering in foodstuffs can hamper their nutritional value while
enhancing their taste and appearance.
➢ May introduce harmful pathogen
➢ May lead to genetic defects
➢ Detrimental to genetic diversity

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➢ It is altering something that is not originally created by man. Is playing with
nature really safe

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