Department of Human Physiology

Faculty of Basic Medical Sciences

Federal University Dutse

INTODUCTORY GENETICS AND CELL PHSIOLOGY

(FUD-PHS 201)

BY

DR. S. MUSTAPHA
1
 THE CELL

 A cell is the smallest unit that has all the

characteristics of life. Cell is defined as the
structural and functional unit of the living body.

 Its major parts are the cell membrane, nucleus and

the cytoplasm

 The nucleus is separated from the cytoplasm by a

nuclear membrane.
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 The cytoplasm is separated from the
surrounding fluids by a cell membrane, also
called the plasma membrane.

 The different substances that make up the cell

are collectively called protoplasm.

 Protoplasm is composed mainly of five basic

substances: water, electrolytes (ions), proteins,
lipids, and carbohydrates.

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 Cell Structure

 The cell is not merely a bag of fluid, enzymes,

and chemicals

 It also contains highly organized living

structures, called intracellular organelles.

 The physical nature of each organelle e.g. the

mitochondria is as important as the cell’s
chemical constituents for cell function.
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5
 Cytoplasm
 This is the jelly-like fluid between the nuclear
membrane and the cell membrane inside which
the cell organelles are suspended.
 The clear liquid portion in which the particles
are suspended is called the cytosol.
 Cytoplasm is mostly water but it contains
electrolyte and about 15% protein plus fat and
carbohydrate.
 The cytoplasm comprises about 80% of the
total weight of the cell.
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 Cytoplasm and Its Organelles
 The clear fluid portion of
the cytoplasm is called
cytosol; this contains mainly
dissolved proteins,
electrolytes, and glucose.

 Also present are ribosomes,

secretory vesicles, and 5
important organelles: the
endoplasmic reticulum, the
Golgi apparatus,
A typical cell, showing the organelles in the
mitochondria, lysosomes, cytoplasm and the nucleus.
and peroxisomes. 7
 Functions of cytoplasmic organelles
 Rough endoplasmic reticulum
1. Synthesis of proteins
2. Degradation of wornout organelles

 Smooth endoplasmic reticulum

1. Synthesis of lipids and steroids
2. Role in cellular metabolism
3. Storage and metabolism of calcium
4. Catabolism and detoxification of toxic substances
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 Golgi apparatus
Processing, packaging, labeling and delivery of
proteins and lipids

 Lysosomes
1. Degradation of macromolecules
2. Degradation of wornout organelles
3. Removal of excess secretory products

 Mitochondria
1. Production of energy
2. Synthesis of ATP
3. Initiation of apoptosis
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Peroxisomes
1. Breakdown of excess fatty acids by a process called
beta oxidation
2. Detoxification of hydrogen peroxide and other
metabolic products
3. Oxygen utilization
4. Acceleration of gluconeogenesis
5.Role in the formation of myelin

Centrosome
1. Movement of chromosomes during cell division

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Ribosomes
1. Synthesis of proteins

Cytoskeleton
1. Determination of shape of the cell
2. Stability of cell shape
3. Cellular movements

Nucleus
1. Control of all activities of the cell
2. Synthesis of RNA
3. Control of cell division
4. Storage of hereditary information in genes (DNA)
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 NUCLEUS
 The nucleus is the control centre of the cell. It’s the most
prominent and the largest cellular organelle.

 It has a diameter of 10 μ to 22 μ and occupies about 10% of

total volume of the cell.

 Most of the cells have only one nucleus (uninucleated cells).

Few types of cells like skeletal muscle cells have many nuclei
(multinucleated cells).

 Nucleus is covered by a membrane called nuclear membrane

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Structure of the nucleus 13
Major components of nucleus are nucleoplasm,
chromatin and nucleolus.

Nucleoplasm is a highly viscous fluid that forms the

ground substance of the nucleus. It is similar to
cytoplasm present outside the nucleus.
Nucleoplasm surrounds chromatin and nucleolus.

Chromatin: This is a thread-like material made up

of large molecules of DNA. The DNA molecules are
compactly packed with the help of a specialized
basic protein called histone. So, chromatin is
referred as DNA-histone complex
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Nucleolus is a small, round granular structure of the
nucleus. Each nucleus contains one or more nucleoli.
The nucleolus contains RNA and some proteins

15
Deoxyribonucleic acid (DNA): Is a nucleic acid that carries
the genetic information to the offspring of an organism.
DNA forms the chemical basis of hereditary characters.
Gene is a part of a DNA molecule. DNA is present in the
nucleus (chromosome).

Ribonucleic acid (RNA) Is a nucleic acid that contains a long

chain of nucleotide units. It is similar to DNA but contains
ribose instead of deoxyribose. Various functions coded in
the genes are carried out in the cytoplasm of the cell by
RNA.

Gene is a portion of DNA molecule that contains the

message or code for the synthesis of a specific protein from
amino acids. 16
Chromosome showing base pairing of DNA 17
 Functions of nucleus
• Major functions of nucleus are the control of cellular
activities and storage of hereditary material.

1. Control of all the cell activities that include metabolism,

protein synthesis, growth and reproduction (cell division)
2. Synthesis of RNA
3. Formation of subunits of ribosomes
4. Sending genetic instruction to the cytoplasm for
protein synthesis through messenger RNA
5. Control of the cell division through genes
6. Storage of hereditary information (in genes).
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 CELL MEMBRANE
 This is a protective sheath, enveloping the cell body.
It is also known as plasma membrane.

 This membrane separates the fluid outside the cell

called extracellular fluid (ECF) and the fluid inside
the cell called intracellular fluid (ICF).

 It is a semipermeable membrane. So, there is free

exchange of certain substances between ECF and
ICF.

 It is 7.5 to 10 nanometers thick 19

Its basic structure is a lipid bilayer, which is a
thin film of lipids. Interspersed in this lipid film
are large globular protein molecules.

The lipid bilayer is composed of phospholipid

molecules.

One end of each phospholipid molecule is

soluble in water; that is, it is hydrophilic.

The other end is soluble only in fats; that is, it’s

hydrophobic.
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Structure of the cell membrane
 Composition of cell membrane
 It is composed of three major types of
substances:
1. Proteins (55%)
2. Lipids (40%)
3. Carbohydrates (5%)

• Major lipids are:

1. Phospholipids
2. Cholesterol
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 Lipid Layer in Cell Membrane

 It’s a semipermeable membrane and allows

only fat-soluble substances like oxygen,
carbon dioxide and alcohol to pass through it.

 The water-soluble substances such as

glucose, urea and electrolytes cannot pass
through this layer.

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 Protein Layers of the Cell Membrane
 These are membrane proteins, most of which
are glycoproteins.

• Two types of proteins occur:

 Integral proteins (transmembrane) that
protrude all the way through the membrane,
and peripheral proteins that are attached only
to one surface of the membrane.

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 Membrane Carbohydrates - The Cell
“Glycocalyx.”
 Occur almost invariably in combination with
proteins or lipids in the form of glycoproteins or
glycolipids.

 In fact, most of the integral proteins are

glycoproteins, and about 1/10 of the membrane
lipid molecules are glycolipids.

 Many of the carbohydrates act as receptor

substances for binding hormones, such as
insulin. 25
 Transport Across Cell Membrane
• If a cell is to live, grow and reproduce, it must obtain
essential substances like nutrients, water, electrolytes,
etc. from the surrounding fluids.

• Most substances pass through the cell membrane by

diffusion (passive transport) and active transport.

• Cells also must get rid of many waste materials like

carbon dioxide, etc.

• Lipids and proteins of cell membrane play an important

role in this transport between extracellular fluid (ECF)
and intracellular fluid (ICF). 26
 Passive Transport (Diffusion)

The movement substances from region of

higher concentration to the region of lower
concentration.

Is the transport of substances along the

concentration gradient or electrical gradient
or both (electrochemical gradient).

It is also known as downhill movement, it

does not need energy. 27
Movement of molecules by simple diffusion 28
 Facilitated or carrier mediated
diffusion
 Is the type of diffusion where the water-soluble
substances having larger molecules are transported
through the cell membrane with the help of a carrier
protein.

 The substances are transported across the cell

membrane faster than the transport by simple diffusion.

 Glucose and amino acids are transported by facilitated

diffusion, they can’t diffuse through the channels. This
is because their diameter is larger than that of the
channels. 29
Movement of molecules by facilitated diffusion using carrier
protein
30
 Active Transport
 Active transport is the movement of substances
against the chemical or electrical or (electrochemical)
gradient. It is like swimming against the water tide in a
river.

 It is also called uphill transport. It requires energy,

which is obtained mainly in form of ATP.

 Carrier proteins of active transport:

1. Uniport
2. Symport or antiport.
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Uniport: Carrier protein that carries only one
substance in a single direction.

Symport or Antiport: Is the carrier protein that

transports two substances at a time, in the
same and opposite directions respectively.

Mechanism of active transport

The substance to be transported across the cell
membrane comes near the cell, it combines with
a carrier protein of the cell membrane and forms
substance-protein complex. This moves towards
the inner surface of the cell membrane. The
32
substance is released from the carrier proteins.
 Substances transported by active
transport
Substances which are transported actively, are
in ionic and non-ionic form. Ionic include
sodium, potassium, calcium, hydrogen, chloride
and iodide. Non-ionic include glucose, amino
acids and urea.

 Types of active transport

Active transport is of two types:
1. Primary active transport
2. Secondary active transport
33
 Primary active transport
• Is the type of transport in which the energy is
liberated directly from the breakdown of ATP.

• Here, ionic substances are transported across the

cell membrane. E.g. Primary Active Transport of
Sodium and Potassium.

• It is also called Na+-K+ ATPase, this pump transports

sodium from inside to outside the cell and
potassium from outside to inside the cell.

• On the average, it accounts for about 24% of 34the

Sodium-potassium pump
 Secondary active transport
 Is the transport of a substance with Na ion, by
means of a common carrier protein, either in
the same direction (of Na+) or in the opposite
direction.
 For e.g., the membranes of mucosal cells in
the small intestine contain a symport that
transports glucose into the cell only if Na+ binds
to the protein and is transported into the cell at
the same time.
 Also, an antiport in the membranes of cardiac
muscle cells normally exchanges intracellular
Ca2+ for extracellular Na+. 36
 Special Types Of Active Transport
 These are some special categories of active
transport which are called the vesicular
transport.
1. Endocytosis
2. Exocytosis

 Exocytosis: Vesicles containing materials for

export are targeted to the cell membrane,
where they bond. The area of fusion then
breaks down, leaving the contents of the
vesicle outside and the cell membrane intact.
37
 ENDOCYTOSIS-----define
Endocytosis is the reverse of exocytosis. There are
various types of endocytosis named for the size of
particles being ingested as well as the regulatory
requirements for the particular process. These include
phagocytosis and pinocytosis

Phagocytosis (cell eating) is the process by which

bacteria, dead tissue, or other bits of microscopic
material are engulfed by cells such as leukocytes of
the blood. The material makes contact with the cell
membrane, which then invaginates. The invagination is
pinched off, leaving the engulfed material in the
membrane-enclosed vacuole and the cell membrane
intact. 38
Exocytosis and endocytosis 39
Pinocytosis (cell drinking) is a similar process,
with the vesicles much smaller in size and the
substances ingested are in solution. Cells
undergoing pinocytosis, e.g. macrophages.

Solvent Drag (bulk flow): When solvent is

moving in one direction, the solvent tends to
drag along some molecules or solutes in that
direction, this force is called solvent drag. In
most situations in the body, its effects are very
small.

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Assignment: Describe osmosis with
examples

41
 Intercellular Connections
• Intercellular junctions that form between the cells in
tissues can be broadly split into two groups:

1. Junctions that fasten the cells to one another and to

surrounding tissues. E.g. tight junctions (zonula
occludens), desmosome, zonula adherens,
hemidesmosome and focal adhesions attach cells
to their basal laminas.

2. Junctions that permit transfer of ions and other

molecules from one cell to another. E.g. The gap
junction 42
 Cell Adhesion Molecules (CAMs)
 They are cell surface proteins that mediate cell-to-cell
or cell to extracellular matrix adhesion by binding to
each other.

 CAMs form the important structures of intercellular

connections and are responsible for structural
organization of tissues.
• They are classified into 4 types:
1. Cadherins
2. Integrins
3. IgG super family
4. Selectins 43
 Transport proteins
 They are proteins that facilitate the movement of
molecules, ions, and other substances across
biological membranes.

 They play a crucial role in cell function, allowing the

uptake of nutrients, the removal of waste products,
and the regulation of ion balance, among others.

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 Types of Transport Proteins

 Channel Proteins: These proteins form pores in the

cell membrane, allowing specific ions or molecules to
pass through, acting like tunnels.

 Carrier Proteins: Bind to specific molecules, change

shape, and then transport the molecule across the
membrane, often requiring energy.

 Pumps: These uses energy, often from ATP

hydrolysis, to move molecules against their
concentration gradient.
45
 Examples of Transport Proteins
• Sodium-potassium pump: A crucial pump that
maintains the correct balance of sodium and
potassium ions in cells.

• Glucose transporters: Transport glucose across cell

membranes, enabling cells to obtain energy from
glucose.

• Glutamate transporters: Are involved in the removal

of glutamate, a key excitatory neurotransmitter, from
the synaptic cleft.
46
 Function of Transport Proteins
Cellular Transport: Transport proteins move molecules
across cell membranes, allowing cells to take in
nutrients, excrete waste, and maintain proper ion
balance.

Cell-to-Cell Communication: They also play a role in

cell-to-cell communication, particularly in nerve-nerve
interactions and neurotransmitter reuptake.

Maintaining Homeostasis: Vital for maintaining

homeostasis by ensuring the correct balance of various
molecules and ions within the body. 47
• Johann Gregor Mendel set the framework for
the study of genetics.
• Used statistics to analyze data
• Formulated basic genetics rules known as
Mendel’s Laws.
• 1866
• His research disregarded until 1900

48
 Basics Of Human Genetics
 Human genetics is the study of the inheritance of traits
and characteristics in humans.
 It encompasses the principles of heredity, the
transmission of genetic information from one
generation to the next.
 E.g. dogs give birth to puppies only and Humans give
birth to human beings.
 The tendency of offsprings to inherit parental
characteristics is termed as ‘heredity’ and
 The study of heredity and the reasons governing the
variation between the parents and their offsprings, is
called ‘Genetics’ 49
Basic principles of Human genetics:

Chromosomes
Genetic information is organized into structures called
chromosomes.
Humans typically have 23 pairs of chromosomes (46
in total), with one set inherited from each parent.
The 23rd pair determines an individual's presenting
sex (XX for females, XY for males).
Genes
Genes are segments of DNA that contain instructions
for building and maintaining the body.
Each gene codes for a specific protein or function.
Humans have approximately 20,000-25,000 genes.
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51
Alleles
Alleles are alternative forms of a gene that occupy a
specific position on a chromosome.
Alleles can be dominant or recessive, influencing the
expression of traits (Eg, the gene for eye color may
have alleles for blue eyes, brown eyes, or green
eyes.)

Genotype and Phenotype

Genotype refers to the genetic makeup of an
individual for a particular trait.
Phenotype is the observable expression of the
genotype, influenced by genetic and environmental
factors. (think eye color.)
52
Dominance and Recessiveness
Dominant alleles mask the expression of recessive
alleles in individuals with two different alleles (called
heterozygous).
Homozygous individuals have two identical alleles,
either dominant or recessive.
Mutation
Mutations are changes in DNA sequence that can
lead to variations in traits.
Some mutations are inherited, while others occur
spontaneously.
Polygenic Traits
Many traits are influenced by multiple genes and
environmental factors (eg, height, eye color, skin
color). 53
Genetic Disorders
Genetic disorders result from mutations or
abnormalities in the genetic material.
Examples include Down syndrome, cystic fibrosis,
and sickle cell anemia.

Genetic Variation
Genetic variation within a population is essential for
adaptation and evolution.
It occurs through processes such as recombination
during meiosis and random mutation.

Understanding these basic principles of human genetics

is fundamental for various fields, including medicine,
biology, and genetic counseling. It helps explain the
54
inheritance of traits, and the risk of genetic disorders.
 Basic Building Blocks of DNA

• These include (1) phosphoric acid, (2) a sugar called

deoxyribose, and (3) four nitrogenous bases (two
purines, adenine and guanine, and two pyrimidines,
thymine and cytosine).

• The phosphoric acid and deoxyribose form the two

helical strands that are the backbone of the DNA
molecule, and the nitrogenous bases lie between the
two strands and connect them.

55
56
Nucleotides. The first stage in the formation of DNA is
to combine one molecule of phosphoric acid, one
molecule of deoxyribose, and one of the four bases
to form an acidic nucleotide.

4 separate nucleotides are thus formed, one for

each of the four bases: deoxyadenylic, deoxythymidylic,
deoxyguanylic, and deoxycytidylic acids.

Genetic Code
The importance of DNA lies in its ability to control the
formation of proteins in the cell. It does this by means of
the so-called genetic code. That is, when the two
strands of a DNA molecule are split apart, this exposes
the purine and pyrimidine bases projecting to the side 57
of
 The genetic code consists of successive “triplets” of
bases—that is, each three successive bases is a
code word. The successive triplets eventually control
the sequence of amino acids in a protein molecule
that is to be synthesized in the cell. E.g. the genetic
code GGC, AGA, CTT.

 The DNA Code in the Cell Nucleus Is Transferred to

an RNA Code in the Cell Cytoplasm—The Process
of Transcription.

 The RNA, in turn, diffuses from the nucleus through

nuclear pores into the cytoplasmic compartment, where
it controls protein synthesis
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The ribose nucleotide bases always combine with the
deoxyribose bases in the following combinations:

DNA Base RNA Base

guanine . . . . . . . . . . . . . . . . . . . . . . . . . . . cytosine
cytosine . . . . . . . . . . . . . . . . . . . . . . . . . . . guanine
adenine . . . . . . . . . . . . . . . . . . . . . . . . . . . uracil
thymine . . . . . . . . . . . . . . . . . . . . . . . . . . . adenine

59
 Three Different Types of RNA
1. Messenger RNA, which carries the genetic code to
the cytoplasm for controlling the type of protein formed.

2. Transfer RNA, which transports activated amino

acids to the ribosomes to be used in assembling the
protein molecule.

3. Ribosomal RNA, which, along with about 75 different

proteins, forms ribosomes, the physical and chemical
structures on which protein molecules are actually
assembled.
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Physical structure of the ribosomes, as well as their functional relation to messenger RNA,
transfer RNA, and the endoplasmic reticulum during the formation of protein molecules

61
62
 Variation In Human Genetic Expression

• Refers to the differences in how genes are activated

or deactivated (gene expression) across individuals,
populations, and even within the same individual.

• This variation contributes to the diversity of traits and

characteristics we see among humans.

• Genetic expression variation is the range of

differences in gene activity, which determines how our
DNA instructions are translated into physical traits,
behaviors, and physiological functions.
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This variation arises from several factors, including:

Genetic Variation: Differences in the DNA sequence,

such as single nucleotide polymorphisms, insertions,
deletions, etc., can lead to variations in gene
expression.

Epigenetics: Changes in gene expression that don't

involve alterations to the DNA sequence itself (like
DNA methylation or histone modifications) can also
influence how genes are expressed.

Environmental Factors: External influences like diet,

exposure to toxins, and stress can impact gene
expression.
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 Heredity and Variation
• This inheritance of genes is termed ‘heredity’. New
individuals develop features according to the genes
inherited by them from their parents.

• The transmission of characters from one generation

to the next, that is from parents to offsprings is known
as heredity.

• Variation means differences between parents and

their offsprings or between offsprings of same
parents or between members of the same population.
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 Pattern of Inheritance
 It Is the manner in which a particular genetic trait or
disorder is passed from one generation to the next.

 Inheritance patterns in families describe how traits,

including genetic conditions, are passed down through
generations.

 These patterns can be broadly categorized into autosomal

dominant, autosomal recessive, X-linked (dominant or
recessive), and other less common forms like Y-linked or
mitochondrial inheritance.
66
 Autosomal Dominant
• An autosomal gene is a gene located on a
numbered chromosome and usually affects males
and females in the same way.
• A single copy of a faulty gene on a non-sex
chromosome-1-22 (autosome) is enough to cause
the condition.
• Each child of an affected parent has a 50% chance
of inheriting the condition.

67
68
69
 Genetic Conditions Caused By An
Autosomal Dominant Gene Variant
• Neurofibromatosis type 1, achondroplasia, Huntington
disease, inherited likelihood to develop breast, ovarian
and bowel cancers and familial
hypercholesterolaemia.

70
 Autosomal Recessive
 Both copies of a faulty gene on an autosome must be
present for the condition to be expressed.
 Parents may be carriers (have one faulty copy) without
showing symptoms.
 If both parents are carriers, each child has a 25%
chance of inheriting the condition, a 50% chance of
being a carrier, and a 25% chance of not inheriting the
condition.
 Cystic Fibrosis, Sickle Cell Anemia, Tay-Sachs Disease
are disorders of autosomal recesssive origin.
71
 X-Linked
• These patterns involve genes on the X chromosome.
– X-Linked Dominant: A single copy of a faulty gene on
the X chromosome is sufficient for the condition to be
expressed. Affected fathers pass the trait to all their
daughters but not their sons, while affected mothers
have a 50% chance of passing it to each child.
– X-Linked Recessive: Males only need one copy of the
faulty gene on their X chromosome to be
affected. Females require two copies, but can be
carriers with one faulty copy. Affected fathers pass the
trait to all their daughters, but not their sons. Affected
mothers have a 50% chance of passing the trait to
each child. 72
 X linked diseases

• Red-green colour blindness.

• non-specific X-linked mental retardation.
• Duchenne muscular dystrophy.
• Becker muscular dystrophy.
• Haemophilia A (factor VIII)
• Haemophilia B (factor IX)
• X-linked ichythyosis.

73
 Cytogenetics
 Is the branch of genetics that correlates study of
chromosomes and genomic structure, function,
variation and their role in human disease and heredity.

 It is concerned with the study of the structure and

function of the cell through the visualisation and
analysis.

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Human Chromosome

75
 Types and classification of Human
Chromosomes
 Human chromosomes are classified by their structure
and function.

 Structurally, they are categorized based on the

position of the centromere (metacentric,
submetacentric, acrocentric).

 Functionally, they are divided into autosomes (22

pairs, controlling non-sex characteristics) and sex
chromosomes (one pair, X and Y, determining sex).

76
 Structural Classification
 Metacentric:
Centromere is in the middle, resulting in two arms of equal length.

 Submetacentric:
Centromere is slightly off-center, leading to one longer and one
shorter arm.

 Acrocentric:
Centromere is severely off-center, resulting in one very long and
one very short arm.

 Telocentric:
Centromere is at the very end of the chromosome (humans do not
77
have telocentric chromosomes).
 Functional Classification
 Autosomes: These 22 pairs of chromosomes carry
genes that determine non-sex traits like eye color, hair
type, etc.

 Sex Chromosomes: This pair (X and Y in males, X

and X in females) determines an individual's sex and
carries some genes related to sexual development.

78
 Methods of Chromosomal Study
 Microscopic analysis of chromosomes usually begins
with cultured cells (usually White blood cells) arrested
in mitotic metaphase by colchicine or other
compounds that disrupt microtubules.
After processing and staining the cells, the condensed
chromosomes of one nucleus are photographed by light
microscopy and rearranged digitally and analyzed.
 Each chromosome can be “painted” a different colour
using sets of chromosome-specific DNA molecules
coupled to different fluorescent dyes. This involves a
technique called DNA hybridization. Then a computer
is used to arrange chromosomes in pairs.
79
80
A more traditional way of distinguishing one
chromosome from another is to stain the
chromosomes with dyes that bind to certain types of
DNA sequences. Staining causes the chromosomes to
have dark and light cross bands of varying widths, and
these can be used—in addition to size and shape—to
help pair up the chromosomes.

A computer is used to arrange the chromosomes in

pairs. The patterns that result allow each chromosome to
be identified and numbered.

81
 Banding Patterns
 Chromosomes can be stained to reveal
characteristic banding patterns, which are used to
identify specific chromosomes and regions for
genetic mapping.

 A chromosome banding pattern is comprised of

alternating light and dark stripes, or bands, that
appear along its length after being stained with a
dye. A unique banding pattern is used to identify
each chromosome.

82
83
 Chromosome banding techniques and
staining
 Giemsa, named after a German chemist has become
the most commonly used stain in cytogenetic analysis.
Most G-banding techniques require pretreating the
chromosomes with a proteolytic enzyme such as
trypsin.
G banding preferentially stains the regions of DNA that
are rich in adenine and thymine.

 R-banding involves pretreating cells with a hot salt

solution that denatures DNA that is rich in adenine and
thymine. The chromosomes are then stained with
Giemsa. 84
C-banding stains areas of heterochromatin, which are
tightly packed and contain repetitive DNA.

NOR-staining, where NOR is an abbreviation for

"nucleolar organizing region," refers to a silver staining
method that identifies genes for ribosomal RNA.

85
 Karyotyping
A karyotype is the organized visual
representation of an individual's chromosomes,
showing the size, shape, and number of
chromosomes.

Karyotyping is the preparation and study of

karyotypes in order to determine chromosomes
number, size and shape and identify any
abnormality.

86
Chromosomes can be studied in any
nucleated body cell in an individual

87
Prenatal tests to study fetal
chromosomes

88
 Chromosome abnormalities
1. Constitutional : exist at birth. These are usually
present in all tissues, if present only in some tissues,
it is called mosaicism and it means that the
abnormality occurred in the mitotic divisions that
follow zygote formation.

2. Acquired: occur during the life of a healthy individual

and are confined to one tissue as seen in tumour cells.

89
 Chromosomal Abberations
Are disruptions in the normal chromosomal
content of cell, i.e. changes in the number and,
or arrangements of genes on chromosomes.

90
 Etiology
 Meiosis: If there is an error in cell division, the eggs or
sperm may end up with too many or not enough
chromosomes.
 Mitosis: If the chromosomes do not split into two
equal halves, the new cell can have an extra or
missing chromosome.
 Maternal age: Due to decline in egg quality with age,
and may have incorrect number of chromosomes at
the time of fertilization.
 Radiation: are teratogenic
 Medications, foods etc.
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92
 Monosomy

 When one chromosome is

missing, chromosome
does not separate
properly during meiosis.

 It is incompatible with
survival because of loss of
much genetic information.

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 Trisomy

 Three (3) instances of a particular chromosome

present instead of the normal 2.

 Occurs when chromosomes fail to separate properly

during cell division.

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 Tetrasomy

 An additional chromosomal pair is added to particular

chromosome.

 A cell contain 8 chromosome here.

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 Triploidy
 There is a complete set of an extra chromosome.

 It can be due to:

Egg is fertilized by a sperm with double set of
chromosomes.
Egg is fertilized by two sperms

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 Tetraploidy

 Two extra chromosomes are present, so cell contain

92 chromosomes.

 It is not compatible with life.

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 STRUCTURAL ABBERATIONS
1. Deletion
Loss of portion of chromosome
Occurs due to breakage on one or both
chromatids of a chromosome.

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 Translocation

 Some times a portion of chromosome become

detached and unites with another non homologous
chromosome.

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 Inversion

 A chromosomal segment
is oriented in reversed
position (180 degrees).

 It effects include partial

male sterility.

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 Duplication

 Occurrence of a segment twice in the same

chromosome.
 It is detected by the presence of loop in the
duplicated region.

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 Hybridization
• Hybridization: mating
between different species
or two genetically distinct
populations that produces
offspring, regardless of
fertility of offspring.
• Genetic hybridization is the
process of interbreeding
individuals from genetically
distinct populations to
produce a hybrid.
• A genetic hybrid would
therefore carry two different
alleles of the same gene. 102
 Gene Hybridization
• Gene hybridization is the process where two
complementary single-stranded DNA or RNA
molecules bond together to form a double-stranded
molecule.

• It is crucial for various applications, including genetic

research and diagnostics.

• This is based on the principle of base pairing, where

adenine (A) pairs with thymine (T) or uracil (U), and
guanine (G) pairs with cytosine (C).
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Applications:
Gene hybridization is used in various fields, including:

Genetic research: Studying gene expression,

identifying genetic mutations, and mapping genomes.

Diagnostics: Detecting pathogens, screening for

genetic disorders, and developing diagnostic tests.

Biotechnology: Developing new drugs, therapies, and

diagnostic tools.

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 Human genome

• Assignment

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