Chapter five: genetics

 Genetics is the branch of biology that studies of inheritance and how the characteristics of living thing
are transmitted from one generation to the next. Heredity is the passing of hereditary traits from parents
to their offspring and from generation to generation.
 Chromosome is a thread like structure of DNA and protein found in the nucleus of most living cells,
carrying genetic information.
 Gene is the part of a chromosome that serves as the basic unit of heredity. Gene is a part of DNA a
particular characteristics.
 Genome is an organisms complete set of DNA including all of its genes.

5.1. Nucleic acids (DNA and RNA)

- Nucleic acids are organic molecules that transfer genetic information generation to the next
generation.
- Nucleic acids are polymers made up of basic units (monomers) called nucleotides which bind
together by covalent bond to form polynucleotide. Nucleotides are the building blocks of nucleic acids.
- There are two types of nucleic acid: Deoxyribonucleic acid (DNA) and Ribonucleic acid (RNA).
- Each nucleotide consists of three main parts linked together by covalent bond and they are:
1. Pentose sugar five carbon sugar ; either be
Ribose and Deoxyribose
2. Phosphate group
3. Nitrogen base

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 Nitrogenous bases
- There are five nitrogenous bases found in DNA and RNA are adenine, thymine, guanine, cytosine
and uracil. The nitrogenous bases are often referred to by their first letters: A, T, C, G and U.
- The five types of nitrogenous bases are divided into two groups, which are;
1. Pyrimidine bases which contain single ring structure (cytosine, thymine or uracil).
2. Purine bases which contain double ring structures (guanine and adenine).

Pentose sugar
Pentose sugar (5carbon sugars) can be either Ribose which is found in RNA or Deoxyribose
which is found in DNA. As their names suggest, Deoxyribose is the same as ribose, except that
it has one fewer oxygen atom in its molecule.

Phosphate group
Phosphate group (PO4 -3) is where nucleotides linked to one another to form long chains.

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Polynucleotides
 Polynucleotides are many nucleotides linked together to
form a long chain.
 The sequence of nucleotides in a polynucleotide is held
together by covalent bonds which are between a phosphate
group and a pentose sugar, these can be DNA or RNA.
 For example; RNA is a polynucleotide, and DNA is a pair of
polynucleotides.
Structure and function of DNA
DNA (deoxyribonucleic acid) is a molecule that contains the instructions an organism needs to
develop, live and reproduce. These instructions are found inside every cell, and are passed down
from parents to their children.
Difference between DNA and RNA molecule:
DNA RNA
It is found in the nucleus It is found in the nucleus and cytoplasm
DNA is self-replication RNA is made from DNA
Has Deoxyribose sugar Has ribose sugar
Contains Adenine, Cytosine, Guanine and Contains Adenine, Cytosine, Guanine and
Thymine bases Uracil bases
Does not contain Uracil base Does not contain thymine base
Double stranded Single stranded
Two chains of polynucleotides Single chain of polynucleotide
It stores and carries the genetic information It transfers the genetic code needed to make
protein from DNA to the ribosomes.

- In a DNA molecule the two chains of nucleotides lie side by side one chain running one way and
the other in the opposite direction. They are called anti-parallel. The bases of one chain link up
with the bases of the other by hydrogen bonds. In this way adenine (Purine base) links with
thymine (pyrimidine base) by two hydrogen bonds and guanine links with cytosine by three
hydrogen bonds. This is called complementary base pairing. The whole molecule twists
together, forming double helix of DNA.
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 Function of DNA
 DNA controls all the activities of the cell.
 DNA codes for proteins.
 DNA is capable of self-replication.
 DNA controls the development, reproduction
and the characteristics of organisms
 DNA forms ribonucleic acids (RNA).

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DNA replication
 DNA replication is the process of copying new identical DNA from the original one.
 DNA replication is important for keeping and transferring the heredity information.
 The replication process begins at special sites called origins of replication. An enzyme
called helicase which breaks the hydrogen bonds between the bases and the double helix
uncoils and unzips into two separate strands.
 Each separate each strand becomes a template for the formation of new complementary. Two
extra phosphate carry free nucleotides and attach them to the template stand to new strand.
An enzyme called DNA polymerase will link a new nucleotides to the template stand.

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 DNA can be replicates itself in three possible ways:
 Conservative replication, in which one completely new double helix would be made from
the old one.
 Semi-conservative replication, in which each new molecule would contain one old strand
and one new strand.
 Dispersive replication, in which each new molecule could be made of old bits and new bits
scattered randomly through the molecule.

RNA (Ribose Nucleic Acid)

 RNA is also polynucleotides made up of many nucleotides, as the DNA it differs from RNA in
the following ways:
1. RNA is single strand
2. RNA forms from the DNA in the nucleus and works in the cytoplasm.
3. RNA has Ribose sugar instead of Deoxyribose sugar of DNA.
4. RNA Nucleotides have the base uracil (U) instead of thymine (T).
5. RNA is shorter molecule that functions in the protein synthesis of the cell.

Types of RNA
1. Messenger RNA (mRNA) is the genetic blue-print. It is a copy of genetics information
for making new protein and carries information from the DNA in nucleus to the
cytoplasm.
2. Ribosomal RNA (rRNA) is the protein factory. It is a part of ribosomes where protein
synthesis take place.
3. Transfer RNA (tRNA) is an amino acid supplier. It brings amino acid from the cytoplasm
to the ribosomes.

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5.2 Protein synthesis
The two main stages of protein synthesis are:
1. Transcription (DNA→ mRNA) is the process by which information is transferred or
copy from DNA to mRNA.
2. Translation (mRNA→ protein) is the process by which information encoded within
mRNA is used to make a sequence of amino acid.

Note: codon sequence of three bases on an mRNA molecule that codes for a specific amino
acid or for a stop signal. Anticodon sequence of three bases on a tRNA molecule that binds
with a codon on mRNA

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 a. In the cytoplasm, the mRNA molecule attaches to
a ribosome. Ribosomes are made of ribosomal RNA
(rRNA) and protein and contain a small and a large subunit.
The mRNA binds to the small subunit. Six bases at a time are
exposed to the large subunit. The first three exposed bases, or
codon, are always AUG. A tRNA molecule with the
complementary anticodon, UAC, forms hydrogen bonds with
this codon. This tRNA molecule has the amino acid
methionine attached to it.

b. A second tRNA molecule bonds with the next three

exposed bases. This one brings a different amino
acid. The two amino acids are held closely together,
and a peptide bond is formed between them. This
reaction is catalyzed by the enzyme peptidyl
transferase, which is found in the small subunit of
the ribosome.

c. The ribosome now moves along the mRNA,

‘reading’ the next three bases on the ribosome.
A third tRNA molecule brings a third amino acid,
which joins to the second one. The firs tRNA
leaves.

d. The polypeptide chain continues to grow

until a ‘stop’ codon is exposed on the ribosome. This
is UAA, UAC or UGA.

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5.3 Genetic engineering
 Genetic engineering is the transfer of genes from one organism to unrelated species. When
gene transfer occurs, the resulting organism is called transgenic or GMO (genetically modified
organism).
Application of genetic engineering
 The following are few examples of achievements in genetic engineering.
 In some cases the production were too expensive or showed a little advantage.
1. Production of insulin:

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2. Production of enzymes:
Alpha anti-trypsin
Alpha anti-trypsin is an enzyme inhibiter that produced by the liver which block action of “elastase”
in the lung of the people have hereditary disorder called emphysema (breakdown alveoli). The
genes its production are transferred to the milk production cells of sheep. So the sheep secrete
the alpha-anti-trypsin in their milk. This milk purified to treat patients with hereditary emphysema.

3. Production of vaccines:
Hepatitis B vaccines
Vaccines usually contain a weakened virus or bacterium that causes a certain disease. In
order to make Hepatitis B vaccine, certain Hepatitis B virus genetic material and plasmid from
bacteria must be attached and then should be inserted into yeast cells to produce Hepatitis B
surface antigen. The yeast cells are culture and produce the protein which is used as a vaccine
to promote the production of antibodies against the virus

Rabies vaccine
Gene from rabies is transferred to a harmless virus (the one that is used to vaccinate people
against smallpox). When this altered virus is injected to human, it stimulates the immune system
to produce antibodies.
Note: Animals and plants which have been genetically engineered to produce substances
that are not part of their normal metabolism called transgenic.

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4. Gene therapy
Human hereditary diseases are caused by one or more defective genes. Gene therapy aims at
replacing the defective genes with normal genes.

 Cystic fibrosis
Absence of a gene for a cell membrane protein leads to the production of thick, sticky mucus
in the air ways (such as lungs) and makes the person very susceptible to infection. Trails are
taking place in which the genetically engineered gene is sprayed into the patient lungs. The vector
is either recombinant viruses or oil drops (liposomes). Liposomes are microscopic droplets
contain a gene and surrounded with a lipid membrane which fuses the cells plasma membrane
to introduce the genes.

 Cancer
Researches are working on, for example, lung cancer, breast cancer and skin cancer, one
technique involves taking white blood cells from the patient with cancer and introducing a gene
for tumour necrosis factor (TNF). The lymphocytes are returned to the patient and, on reaching
the tumour, they release the TNF, which kills the cancer cells but does not harm normal cells

 Adenosine de-aminase ADA treatment

If the gene for production this enzyme is faulty, the patient cannot make normal white blood cells
and so the immune system doesn’t function. To this problem samples from the bone marrow are
taken from the patient and the normal gene is introduce to the blood producing cells using virus as
a vector.

5. Genetic modified crops (GM Crops)

Genetic engineering is used in genetic modified crops to provide the crops with resistance
against pests and herbicides.

 Pest resistance
Genetic engineering has huge benefits in agriculture. The bacterium “Bacillus thuringeinsis”
produce a toxin that kills caterpillars and other insect larvae. The toxin has been in use for
some years as an insecticide. The gene for the toxin has been successfully introduced into some
plant species using a bacterial vector. The plants produce toxin and show increased
resistance to attack by insect larvae. The gene is also passed on to the plant’s offspring.

 Herbicide resistance
Herbicides are chemical that kill any green plant, they are used to kill weeds. These herbicides
cannot be used on the farm, because they do not kill only the weeds but also they kill the crop
plant. Some of safest and most effective herbicides are those such as glyphosate which kill
any green plant but become harmless as soon as they reach the soil. These herbicides cannot
be used on crop because they kill the crop plants as well as weeds. A gene for an enzyme which
breaks down glyphosate can be introduced into a plant cell culture, which can then be used to
produce resistant plants, when a crop of these plants is sprayed only the weeds are killed.

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6. Genetic modified food (GM Food)

Genetic modified food is a food prepared from GM

crops. Most genetic modifications are aimed at
increase yields rather than changing the quality of
food. However, it is possible to improve the
protein, mineral or vitamin content of food and
keeping qualities of some products.

7. Modified plant product (GM Food)

A gene introduce oil seed rape and other oil producing plant can change the nature of the
oil they produce to make them more suitable for commercial process, e.g. detergent
production
Advantage of genetic engineering
1. It’s helpful for improving health prevent diseases.
2. It’s useful for the production of many varied protein that are useful to the body.
3. It’s essential for modern agriculture to production the transgenic animal and plant
Disadvantage of genetic engineering
1. It can result irreversible effect with associated consequence
2. It is expensive and require gathering wide variety of information and research
3. It is quite and tricky and risky for human right.
4. It is influence the moral issue of religions, law and nature.

5.4 Biotechnology
Biotechnology is the application of biological organisms, system or process to produce describe
materials. Biotechnology is used to produce cheese, yoghurt, breed, chocolate and alcohol.
Some of these produce are discussed below.

Cheese
Cheese is a food derived from milk of cow, buffalo, goats, or sheep, it is produced by
coagulating the milk protein called casein. During its production the following steps:
1. The milk is acidified by adding bacteria which converts
milk sugar into lactic acid.
2. The enzyme called rennet is added into solid curds
and liquid.
3. The milk is separated into solid curd and liquid.
4. The solid are processed into final form as cheese.

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 Yoghurt
Yoghurt is a semisolid food prepared from milk fermentation by bacteria. Here it’s made up
yoghurt.
1. The equipment is sterilized to kill off any unwanted microorganisms.
2. The milk is pasteurized about 750C again to kill any harmful
microorganisms, and then the milk is cooled.
3. A starter culture of bacteria is added Streptococcus thermophiles,
and the mixture is incubated heated about 400C in a vessel called
fermenter.
4. The bacteria ferment the lactose sugar in the milk to form citric acid.
These make them milk clot and solidify into yoghurt.
5. Finally flavors (e.g. fruit) and colors sometimes added and the
yoghurt is packaged.

Breed
Breed is a making of food made from flour. Yeast is the micro-organism used in bread-making
but the only fermentation product needed is Carbon dioxide. Steps involving its production are
as following:

1. Flour, water, salt, oil and yeast are mixed to make a dough. Yeast water activates the
amylases present in flour and these digest starch to sugar. The yeast then ferments the
sugar to alcohol and carbon dioxide. A protein called gluten gives the dough a sticky,
plastic texture, which holds the bubbles of carbon dioxide
2. The dough is repeatedly folded and stretched either by hand or mechanically.
3. The dough is then left for an hour or two at a temperature of about 27 "C while the yeast
does its work. The accumulating carbon dioxide bubbles make the dough rise to about
double its volume.
4. The dough may then be kneaded again or put straight into baking tins and into an oven
at about 2OO 'C. This temperature makes the bubbles expand more, kills the yeast and
evaporates the small quantities of alcohol before the dough turns into bread.

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5.5 Chromosome structure and cell cyle
 Chromosomes within the nucleus hold the genetic
information needed to maintain the cell and make new
copies of the cell.
 Each chromosome is made up of two sister chromatid, which
are held together by centromere.
 Sister chromatids are genetic copies of each other, that is
the DNA in one sister chromatid is identical to the DNA in
each other.

Human Karyotype

 Humans possess 46 chromosomes in

every somatic cell (body chromosomes);
44are and two autosomes are sex
chromosomes which specify gender (Xy for
male and XX for female).
 The pairs of autosomes are called
"homologous chromosomes." one of each
pair came from mom and the other came
from dad.
 A karyotype is an illustration or photograph
of the chromosomes in the nucleus of a
somatic cell in an organism.

 Diploid cells and haploid cells:

 Diploid cells is a cells have two complete sets of chromosomes. (2n). E.g. human’s
somatic or body cells have 23 pairs of chromosomes or 46 chromosomes.
 Haploid cells are only have one complete set of chromosomes (n). E.g. Human
gametes (Sperms & eggs) have one set or 23 chromosomes

 Autosomes and sex chromosomes:

Many animals, including humans, have two types of chromosomes: autosomes and sex
chromosomes.

− Chromosomes which determine the sex of the organism is called Sex chromosomes;
this indicates whether an individual is female or male. Females have XX chromosomes,
whereas males have one X and one Y chromosomes.
− Autosomes are all the rest of the chromosomes that are not needed for sex
determination.
Homologous chromosomes are two chromosomes of the same type, which are the
same size and shape and have the same genes.

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 The Cell Cycle
The cell cycle is the period between one cell division and the next. It is a continuous sequence of
growth and division.
The cell cycle consists of two main stages, the growth stages and division stage.
 Growth stage (interphase): the cell makes new molecules, which increase the cell’s volume
and mass. This stage contains three main parts:
 Gap 1 (G1): is the first growth place and involve preparation of new organelles and
metabolic activities for the cell division.
 Synthesis phase (S phase): is the replication of DNA molecule.
 Gap 2 (G2): is the second growth phase where cell ready for cell division as
proteins that promote mitosis are produce.
 Division stage: involves two processes; mitosis (division of cell’s nucleus) and the cell division.
These two processes are the shortest events in the cycle of a cell

Cell division
 There are two types of mitosis and meiosis.
 Mitosis occurs in all cells of the body and produce two identical daughter cell but meiosis
occur in the reproductive ages in the reproductive organs.
 Meiosis produce four haploid cells.

Mitosis (Nuclear Division)

 Mitosis is divided into four phase: prophase, metaphase, anaphase and telophase.
 During mitosis a diploid cell divides and produce two identical diploid cells.

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 Prophase Prophase: is the first phase of mitosis.
 The nuclear membrane disappear.
 The chromosome get shorter and thicker to form visible duplication
chromosome
 Each chromosomes have been replication during interphase is X
shaped.
 Centrioles migrate to poles of the cell and produce spindle fibers.

Metaphase Metaphase: is the second phase of mitosis.

 Chromatid line up at the equator of the cell.
 The spindle fibers attach to centromere.
 The chromatids are guided by the spindle fibers to the middle of cell.
 Nuclear membrane complete disappear.

Anaphase Anaphase: is the third phase of mitosis.

 The centromere split apart and the chromatids are pulled to opposite
poles of the cell by the spindle fibers.
 The chromatid are pulled apart as a result of the shortening of the
microtubules that make up the spindle fibers.

Telophase Telophase: is the fourth and last phase of mitosis.

 The chromatid have reached the two opposite poles within the cell.
 Each of the chromatid is called a single non-replication chromosome
 The chromosomes now begin to unwind and become less visible.

Cytokinesis  Cell division occurs after mitosis. The separation of the cytoplasm
and formation of two new daughter cells is called cytokinesis.
 As part of this process, the spindle fibers are no longer needed, so
they break down and disappear. The nucleus reappear.
 A nucleus membrane forms around each new set of chromosomes,
which are located at the opposite poles of the cell.
 Cytoplasm divides between the halves of the cell.
 The final structure to form is the cell membrane.

Signification of mitosis
 Identical genetic composition
 growth
 cell replacement
 Regeneration and a sexual reproduce

Meiosis
 Meiosis is type of cell division that converts single diploid cell into four haploid cells.
 Meiosis consist of two successive division, which are designated meiosis I and meiosis II.
Meiosis I
 Meiosis is division into prophase, metaphase, anaphase and telophase. These
phases occur once in each of the division (meiosis I and meiosis II.)

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 Prophase I  The nuclear membrane disappear
 The centrioles become at opposite side of the nuclear
 Chromosomes condense and spindle form.
 The homologous chromosomes come to lie side by side a pairing
process called synapsis. During synapsis the homologous
chromosome exchange genetic material.
Metaphase I  Homologous pairs of chromosomes line up midway between the
two poles.

Anaphase I  The paired homologous chromosomes separate form one another

and move to the opposite poles of the cell.
 It is important to know that sister chromatid do not separate at this
stage.

Telophase I  The chromosome reach their poles the cell generally divided.
 The spindle breaks down.
 The nuclear membrane reformed around each set of
chromosomes.
 The cell divides into two, the daughter cells go into a short resting
stage (interphase) before proceeding to meiosis II.
 Then the daughter cells go into second meiotic division.

Meiosis II
 Meiosis II: the sister chromatid chromosomes are separated. Meiosis II. Hass the following
stages:
Prophase II  The chromosomes become shorter and thicker. A new spindle fibers is
formed.

Metaphase II  The chromosomes move to the equator of the cell.

Anaphase II  The chromosomes separate and move apart from each other to the
opposite poles of the cell.

Telophase II  Spindle fibers disappear

 A new nuclear membrane uncoil and the cell divides into two. The result
is the formation of four haploid cells.

Signification of mitosis
 Signification of mitosis Formation of gametes, i.e. sperm and egg.
 Restoration of original chromosomes number.
 Production of genetic variation because the two chromosomes of each homologous pair always
carry different genetic information.
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 Comparison of mitosis and meiosis
Mitosis
1. Homologous chromosomes do not pair up
2. Crossing over occurs
3. Forms cells that are genetically identical
4. One cell division
5. Two diploid daughter cells are produced
6. Each daughter cell has the same number
of chromosomes as the original cell
7. Each daughter cell has the same number
of chromosomes as the original cell
8. Occurs in all cells of the body
9. Occurs throughout life
10. Results growth, repair and replacement of
worn out cells.
Meiosis I
Meiosis II
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Meiosis
a. Homologous chromosomes pair up
b. No crossing over occurs
c. Forms cells that are genetically different
d. Two cell division
e. Four haploid daughter cells are produced
f. Each daughter cell has half as many
chromosomes as the original cell.
g. Each daughter cell has half as many
chromosomes as the original cell.
h. Occurs in the reproductive organs
i. Occurs only during reproductive ages.
j. Results gamete production (Sex cells)
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5.6 Mutation
 Mutation is a permanent change in the genetic material of an organism.
 All mutations are heritable during DNA replication. Not all mutations will be passed on to future
generations, however.
 Only changes that affect the genetic information contained in the reproductive cells of an
organism, called germ cell mutations, will be passed on to offspring.
 Mutations that arise in the other cells of an organism during its lifetime are called somatic cell
mutations.
 Somatic mutations are not inherited by future generations, but they are passed on to daughter
cells within the body of that organism during the process of mitotic cell division.
 Mutation can either be harmful, beneficial or neutral.

Types of mutation
Mutation has two major types: Point Mutation (gene mutation) and Chromosomal Mutation.
1. Point Mutation (Gene Mutation)
Gene or point mutation is a change in the nucleotide sequence of the DNA molecule in particular
region of the chromosome. This would affect the process of protein synthesis (change the
nucleotide on RNA). Gene mutations can be:
 Deletion: one nucleotide of a gene is absent. This disrupts the sequences of amino acids
in the polypeptide chain. It leads to functionless protein.
 Inversion: the order of some bases/ nucleotides of a gene is reversed. This leads to the
production of a functionless protein.
 Insertion: addition of a nucleotide between two existing bases. This disrupts the linear
sequence of amino acids and results a functionless protein.
 Substitution: this a replacement of one nucleotide on the gene with an incorrect one. This
changes only the codon, and brings change in amino acid. Substitution doesn’t produce a
functionless protein.
2. Chromosomal Mutation
Chromosomal mutation is a change in structure or the number of chromosomes in a cell. This
occurs during cell division. It results when part of chromosomes may break or intertwined
chromosome may fail to separate.
There are two types of chromosomal mutation
i. Change of chromosomal structure
ii. Change of chromosomal number

Change of chromosomal structure

The change of chromosomal structure can be the following types:
 Deletion: is the breaking off a segment of a chromosome either from the outer ends or
the internal parts. Most deletions are lethal.
 Inversion: some region of DNA molecule changes its position on a chromosome, then
inversion occurs.
 Translocation: a portion of chromosome attaches to its non-homologous part during
crossing over. The disease of leukemia occurs due to translocations.
 Duplication: when the genes appear more than once on the same chromosome, they
result in duplications.
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 Change of chromosomal number
Non-disjunction
Non-disjunction is the failure of homologous chromosomes or sister chromatids to separate
properly during cell division. As a result, one sex cell has an extra chromosomes and is called
n+1. In humans, an n+1 gamete contains 24 chromosomes. The other gamete lacks one of the
chromosomes and called n-1. In humans, an n-1 gamete has 22 chromosomes.
If one of these gametes is involved in fertilization, the result will be an embryo with extra or fewer
chromosomes than normal. Inheriting an extra chromosome is called trisomy. Human embryos
with too many or too few chromosomes rarely survive.
Change of chromosomal in number (non-disjunction)
 Non-disjunction is the failure of homologous chromosome
or sister chromatids separate during cell division.
 Non-disjunction can occur in the formation of either egg
cell or sperm cells. When two normal gametes join to form
an embryo, the embryo is diploid or 2n. An embryo formed
from one normal gamete (n) and one n-1 gamete is form
2n-1 embryo, this condition is called monosomic. And
when normal gamete (n) and n+1 gamete join the embryo
become 2n+1, this condition is called trisomy.
 The number of human diseases is known to come as a
result non-disjunction are Down’s syndrome
(mongolism), Klinefelter’s syndrome and Turner
syndrome.
Down’s syndrome (mongolism)
This resulted from an extra chromosome arise from non-
disjunction of chromosome or trisomy. The individuals with disease have total number of 47
chromosomes. This disease is characterized by abnormalities of face, eyelids, thick tongue that
can create speech defect, the skeleton may not develop properly and lowered resistance to
diseases. Mental and physical retardation.
Klinefelter’s Syndrome
Organisms with this condition have two (XX) chromosomes and one (Y) chromosome, genotype
is (XXY). This effects the males’ sex organs; the person becomes sterile and develops more
feminine body characteristics than male. Symptoms are female like breasts, a condition called
gnaecomastia, testes are undeveloped and produce very few sperm or sterile. XXY males are
taller than average.

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 Turner’s syndrome (Monosomy)
Organism with such condition has one X chromosome and no Y chromosome. Genotype is XO.
They females, but their genitalia are underdeveloped and sterile and mentally retarded. This
affects 1:5000 live births.

Other abnormalities
This may arise from non-disjunction of the sex chromosomes that lead to the genotypes XXX and
XYY this are male’s sex organs become sterile and more feminine body characteristics. XXX in
women. This can affect 1:1000 live births. They are healthy and fertile but usually cannot be
distinguished from normal female.
Polyploidy
This is the heritable condition of possessing more than two complete sets of chromosomes.
Polyploids are common among plants, as well as among certain groups of fish and amphibians.
Many of these polyploid organisms are fit and well-adapted to their environment.
Mechanisms of polyploidy
How does an organism become polyploidy? Polyploids arise when a rare mitotic, such as
nondisjunction, causes the formation of gametes that have a complete set of duplicate
chromosomes. Diploid gametes are frequent formed in this way. When a diploid gamete fuses
with a haploid gamete, a triploid zygote forms, although these triploids are generally unstable and
can often be sterile. If a diploid gamete fuses with another diploid gamete, however, this gives
rise to a tetraploid zygote, which is potentially stable.

5.7 Variation
 Variation is the differences between individual of the same species. The term ‘variation’ refers to
observable differences within a species
 For example, people are different heights and weights, their hair and eyes are different colors and
their faces have different shapes.
 There are two types of variation Discontinues variation and Continuous variation

Discontinues variation
Discontinues variation is the variation that can be separated into
two or few distinct forms. Discontinuous variation has no
intermediate forms. These are variations under the control of a
single pair of alleles or small number of genes Discontinuous
variation cannot usually be altered by the environment.
Examples of discontinuous variations are: Roll of tongue,
Gender, Blood groups etc.
Continuous variation
Continuous variation cannot be separated into two or few distinct
forms. An example of continuous variation is height. There are
no distinct categories of height; people are not either tall or short.
There are all possible intermediates between very short and very
tall. Environment influences continuous variation e.g. a person
may inherit genes for tallness and not yet get enough food to
grow tall.

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 Inherited and acquired traits
Inherited traits: all characteristics that organisms have, are inherited from their parents but
some can be influenced by environmental factors. Inherited traits distinguish one organism from
another organism. Examples of inherited traits may be color of flowers, eye color, body design,
baldness, blood type, and skin color.
Acquired traits: acquired traits are the traits that occur after an organism is born. Acquired
traits are not passed down from one generation to the next. Acquired traits can be caused by
environmental factors such as temperature, nutrients, injuries, disease, exposure to sun, or
living conditions. Example of acquired characteristics is driving cars, scars from injuries.
There are some characteristics which can be both inherited and acquired (environment
factors). Example of these traits are obesity, tallness, fruit size, milk production etc.

5.8 Inheritance
Heredity is the passing on of traits from parents to their offspring

Terms

 Gene: the basic unit of heredity.

 Allele: any one of the variant forms of a gene.
 Homozygous: having two identical alleles of a gene.
 Heterozygous: having two different alleles of a gene.
 Genotype: the genetic makeup of an organism.
 Phenotype: the physical appearance of an organism.
 Dominant allele: an allele that has the same effect on the phenotype whether it is
present in the homozygous or heterozygous state or the allele that masks the recessive
allele.
 Recessive allele: an allele that only has an effect on the phenotype when present in the
homozygous state.
 Co dominant allele: pairs of alleles that both affect the phenotype when present in a
heterozygote.
 Carrier: an individual that has one copy of a recessive allele that causes a genetic
disease in individuals that are homozygous for this allele.
 Test cross: testing a suspected heterozygote homozygote by crossing it with a known
homozygous recessive organism.

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 Mendel’s concept of inheritance
Mendel’s law of segregation, state that allele pairs separate or segregate during gamete
formation, and unite at fertilization. There are four main concepts related to this principle. They
are as follows:
 Organisms inherit two alleles for each trait
 When sex cells are produced by meiosis, allele pairs separate leaving each cell with a
single allele for each trait.
 When the two alleles of a pair are different, one is dominant and the other is recessive.
 punnet squares that are useful for predicting what the offspring will look like when mating
plants or animals
Monohybrid cross
Monohybrid cross involves one character.
Example 1:
The gene for seed color in pea plant exists two forms. These is one form or allele for yellow
seed color (A) and another for green seed color (a).
The yellow pea phenotypes has a genotype of AA.
The green pea phenotype has a genotype of aa.
a. What will the genotype and phenotype of their offspring’s?
b. if two of their offspring’s(F1) are self-fertilized.
c. What will be genotypic and phenotypic ratio second generation?

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 Example 2:

Test cross
 A test cross is a way to explore the genotype of an organism.
 An organism’s genetic makeup is called its genotype, and it reflects all of the alleles, or
forms of the gene, that are carried by organism.
 A test cross can help determine whether a dominant phenotype is homozygous or
heterozygous for a specific allele by crossing with a known homozygous recessive
organism of the same species.
Example
Suppose you have a purple and white flower and purple color (P) is dominant to white (p). The
white flower must be homozygous for the recessive allele, but the genotypes of the purple flower
is unknown. The unknown genotype can be determined by observing the phenotypes of the
resulting offspring. It could be either PP or Pp.

Parental phenotype: Purple flower × White flower P p

Parental genotype: × pp ? Purple flowered Purple flowered
plants plants
? Purple flowered Purple flowered
plants plants
Since the cross fertilization produces all purple flowered plants, the genotype of the unknown plant
was homozygous dominant (PP).
Let us back cross the second offspring
P p
Parental phenotype: Purple flower × White flower ? Purple flowered Purple flowered
Parental genotype: × pp plants plants
? White flowered White flowered
plants plants

Since the second back cross produced offspring which half of them are purple flowered plants and
the other half are white flowered plants, the genotype of the unknown plant was heterozygote (Pp).
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 Co-dominance and Multiple alleles
 The ABO blood group is a good example of co-dominance and multiple alleles. There are
three allele that control the ABO blood groups.
 If there are more than two allele of a gene then they are called multiple allele. The allele
IA corresponds to blood group A (genotype IAIA) and the allele IB corresponds to blood
group B (genotype IBIB). Both of these are dominant and so if IA IB are present together
they form blood group AB (genotype IA IB).
 Co-dominant alleles are pairs of allele that both affect phenotype when present together
in a heterozygote. The allele I0 is recessive to both IA and IB.
The table below summarizes which genotypes give the phenotypes
Phenotype Genotype
A IAIA or IAIO
B IBIB or IBIO
AB IA IB
O IOIO
Example 1: A man of blood group B is heterozygous married a woman of blood group A which
is also heterozygous.
1) What are the genotypes of the husband and wife?
2) Fertilize the parents alleles by using punnet square
3) Write down the genotype and phenotype of the children

Solution
1. Male alleles: IB Io
Female alleles: IA Io

2. Allele segregation and Fertilization

Genotype of the parents I B Io × IA Io

Allele segregation IB Io IA Io
Female

IA Io
B
Male I IA IB IB Io
Io IA Io IoIo

3. Phenotype of the offspring: 1AB, 1A, 1B, 1O

Genotype of the offspring: 1 IAIB, 1IAIo, 1 IBIo, 1IoIo
The ration of both the phenotype and the genotype: 1:1:1:1
Note: Blood group AB is co-dominance because none of the alleles is dominated by the other.
Exercise
A man with heterozygous blood group A married with a woman with blood group O.
1) What are the genotypes of the husband and wife?
2) Fertilize the parents alleles by using punnet square
3) Write down the genotype and phenotype of the children
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 Incomplete dominance
 This term is sometimes taken to mean the same co-dominance but strictly, it applies to a
case where the effect of recessive allele is not completely masked by the dominant allele.
 If a person inherits both recessive allele HbS HbS) for sickle cell hemoglobin, then he or
she will show manifest signs of the disease, i.e. distortion of the red blood cells leading to
severe anemia.
 A heterozygote (HbAHbS) will have a condition called sickle cell trait.
 Although there may be mild symptoms of anemia. The condition is not serous or life
threatening. In this case, the normal hemoglobin allele (HbA) is not completely dominant
over the recessive (HbS) allele.
Rhesus factor
Most people have an antigen on their red blood cells, called Rhesus factor. People with the
Rhesus factor are called rhesus positive (Rh+) and those without it are called rhesus negative
(Rh-). The Rh+allele is dominant over the Rh-.
Genotype of Rh positive person is Rh Rh or Rh rh
While that for Rh negative person is rhrh
Example
A man with Rh negative married with Rh positive woman which is heterozygous for that trait.
a. Figure out the alleles of both man and woman
b. Figure out the possible blood of all the offspring
Solution
The alleles of the man: rhrh
The alleles of the woman: Rh rh

Rh rh
Rh Rh rh Rhrh
Rh Rhrh rhrh
The phenotype: Two Rh positive and two Rh negative
The phenotypic ratio 2:2
The genotype: 2 Rh rh, 2 rhrh

How sex of organism is determined?

There are 23 pairs of chromosomes in every human body cell. 22
pairs of chromosomes are called autosomal chromosomes the
23rd pair of is called sex chromosome which is labeled with XX
or XY. This of chromosome determine whether you become a
male or female. All men have (XY) chromosomes and females
have (XX) chromosomes.
There are two types of sperm, one carrying Y chromosome and
one carrying X chromosome while whole egg is one type and
carrying X chromosome. When sperm carrying Y, chromosome
fertilizes the egg carrying X a boy develops, when sperm carrying
X fertilizes the egg a girl develops.
Example: what will be the products in which each these gametes produce after fertilization
between male and female?
Parental genotype Male × Female X X
Genotypic offspring: 2XX, 2XY X XX XX
Genotypic Ratio: 2:2
Phenotypic offspring: 2 girls, 2 boys Y XY XY
Phenotypic Ratio: 2:2
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 Sex linked
 Most of the sex-linked genes are carried on the X chromosome.
 Since female have two X chromosomes they have two copies of the sex-linked gene
whereas male only have one since they only have one X chromosome.
 Hemophilia and color blindness are both examples of sex linking.

 Hemophilia:
− Hemophilia is a heredity disease which the blood fails to clot properly or
characterized by lack of blood clot.
− XH is the allele for normal blood clotting and dominant over Xh which is recessive and
causes hemophilia.
− Below is a punnet showing how a carrier mother and an unaffected father can pass the
disease on their offspring.

 Colour blindness:
− Colour blind: a heredity disease which characterized by inability to see color or differences in
color (red and green usually common).
− It transmitted a recessive gene on X-chromosomes.
The following genotypes and phenotypes can occur.

 X CX C normal female
 X CY normal male
 X CX c carrier
 XcY Colour blind man
 XcXc Colour blind female
Example: A Colour blind man marries with a homozygous normal woman; what the
result will be (use Punett square).

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 Pedigree
 Pedigree is a chart showing of an individual’s ancestors and families, used in human
genetics to analyze the inheritance of a certain trait.
 To understand a pedigree we use symbols that represent individuals whether they are
male or female, healthy or unhealthy.
 Squares represent males and circles represent females. Shaded symbols represent
affected individuals.
 Unshaded represent unaffected individuals. Relationships in a pedigree are shown as a
series of lines.
 Parents are connected by a horizontal line and vertical leads to their offspring. The
offspring are connected by a horizontal sibling line and listed in birth order from left to
right. If most of the males in the pedigree are affected the disorder is X-linked. If it is a
50/50 ratio between men and women, the disorder is autosomal.
 Therefore the pedigree below is a sex linked disease because it appears only in males
and females are carrier.

Dihybrid cross
Dihybrid cross: inheritance of two genes is investigated together. Mendel performed dihybrid
crosses with pure breeds of barley.

Example: A strain of barley (A) has a high yield of seeds but a long stem. Another strain (B) has
a short, sturdy stem but a lower yield. The genotype of variety A is BBbb (high yield, long stem)
and the genotype of B is aaAA (low yield, short stem). To show how a plant breeder would cross
these varieties to produce a high yielding, short stemmed variety.

The high yield and long stem plant (BBbb)

The low yield
Bb Bb Bb Bb
And short
Aa AaBb AaBb AaBb AaBb
stem plant
Aa AaBb AaBb AaBb AaBb
(aaAA) Aa AaBb AaBb AaBb AaBb
aA AaBb AaBb AaBb AaBb

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