Histology

Cell Biology

Brigadier General Md Ahsan Habib

MBBS, M Phil, MMEd
Professor and Head
Department of Anatomy
Armed Forces Medical College

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 Content

Title Page

Cell 02
Plasma membrane 03
Cell Organelle 04
The Nucleus 07
Chromosome 09
Cell Cycle 12
Cell Division 13
Mitosis 13
Meiosis 14
Characteristics and Results of Cell Division 16
Anomaly of Cell Division 16
Some Terms Related to Genetics 17

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 Cell
Definition : Cell is the structural and functional unit of a living organism. The body of both
animals and plants comprise of cells.
Prokaryotic cells : Some animals like bacteria comprise
of cells having some characteristics of plant cells and
lack some animal cell characteristics. Those types of
cells are called prokaryotic cells. The typical
characteristics of prokaryotic cells are :
 Small in size
 Have cell wall outside plasma-membrane
 No nuclear membrane
 No membrane bound organelles in cytoplasm
Human cell is eukaryotic cells.
Function of Cell
 All the reactions of metabolism of food take place in the cell, which release energy, required for
the maintenance of life.
 Another important function of cell is that they can divide, which is essential for reproduction,
growth and repair.
Cell components
Cell
Plasma membrane Protoplasm
Cytoplasm Nucleus
Organelle Inclusion Cytosol

Cilium Surface modifications

Microvillus

Plasma membrane
Cytoplasm

Inclusion
Organelles

Nucleus

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 Plasma membrane
Cells are externally limited by plasma membrane, which is about 7.5 to 10 nm thick.
Chemical Composition : Composed of protein, phospholipids, cholesterol and carbohydrate. If
compared volume by volume (v/v) the lipid protein ratio is 3 : 2, whereas weight by weight
(w/w) about 50% is protein.
Unit membrane : As it is a continuous sheet like structure, the smallest portion of the
membrane containing all its typical characteristics of membrane and is call unit membrane.
Fluid mosaic model is the most accepted theory of explaining structure of unit membrane.
Structure : Fluid mosaic model
Phospholipid molecule : Each membrane phospholipid molecule comprises of two long
hydrophobic hydrocarbon chains attached to a globular hydrophilic head. In membrane these
molecules are arranged in double layers with their chains directed towards the centre of the
membrane and head directed out wards. The cholesterol molecules are scattered in these layers.
Protein molecule : There are two types of structural orientation of protein molecules: integral
protein and peripheral protein. Directly incorporated, totally immerged protein molecules
within lipid layers are integral protein. The peripheral proteins are loosely arranged protein
molecules on the membrane surface or may float as partially immersed molecule. The long
integral protein molecule may travel the membrane more than one time.
Carbohydrate molecule : The carbohydrate molecules remain attached to the external surface
of the plasma membrane and project outwards forming either glyco-protein or glyco-lipid.
When many carbohydrate molecules remain in close apposition forming a patch on surface, the
area is called glycocalyx.

Carbohydrate
molecule
Phospholipid
molecule
Head
Tail

Integral protein
molecule
Peripheral protein
molecule

Functions
 Plasma membrane is the boundary wall of cell.
 It is selectively permeable and regulates passage of material through it. Thus membrane
maintains a particular internal environment of the cell.
 It has signal reception system in it. Cell’s homeostasis may be altered by stimulating the
membrane.

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 The membrane produces contact with adjacent cells and maintains interaction between
cells.
 Cell antigenisity lies on its membrane, which helps in recognition of cells. The glycocalyx
is the main factor for this function.
 The membrane also helps in engulfing material as endocytotic vesicle.

Cell Organelle
Organelles are the permanent inhabitance of cytoplasm and very often these are considered as
the living components.
Classification :

Double layer
 Mitochondrion
membrane

Membrane  Endoplasmic
bound reticulum
Single layer  Golgi complex
Organelle membrane  Llysosome
 Peroxisome and
 Ribosome
Without  Secretory granule
membrane  Centrosone and
 Cytoskeleton

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Mitochondria
Shape & size : Mitochondria are spherical, oval or filamentous. They are usually 0.5 to 1 µm
wide, but may be as long as 10 µm. Long mitochondria are observed in skeletal muscle cells.
Position : Mitochondria remain scattered throughout the cytoplasm. They tend to accumulate
in part of cytoplasm where energy utilization is more; as in apical area of ciliated cells,
cytoplasm near ion transfer surface.
Structure : Each mitochondrion is bounded by double
layers of membranes. The outer membrane is smooth
and the inner one is folded inside forming shelf like or
tubular projections called Cristae. The space between
the two membranes is Inter-membranous space and
the space inside the inner membrane is matrix space or
Inter-cristal space. Matrix space contains amorphous
matrix containing protein, DNA, inorganic substances and ribosome.
Function : Mitochondria are the power house of cell which means source of energy. They
convert chemicals to ATP or GTP, which release energy for utilization by cell.
Endoplasmic Reticulum
Structure : The Endoplasmic reticulum is inter-communicating channels and sacs formed by a
continuous membrane. The space in it is cisterna.
Type : There are two types of endoplasmic RER SER
reticulum – Rough Endoplasmic Reticulum
(RER) and Smooth Endoplasmic Reticulum
(SER).
RER : These are structurally parallel stacks
of flattened cisternae with many ribosome
attached to its surface.
SER : These are usually tubular cisternae
forming network in cytoplasm.
Functions of RER : It is related primarily to
synthesis of protein and also synthesizes
phospholipids.
Functions of SER : They mainly synthesize steroid and can also synthesize lipid and
carbohydrate. They neutralize toxic substances by oxidation, conjugation and methylation. In
muscles cells they play an important role in contraction process.
Golgi complex
Number & position : Golgi complex also called
Golgi apparatus may be one or more in a cell. Those
are more in secretary cells. In those cells the Golgi
complex lies between nucleus and secretary surface.
In non-secretary cells they are haphazardly placed.
Structure : Golgi complex comprises of stalks of
flattened sacs, each sac is dilated at the side ends.
The surface facing endoplasmic reticulum is called
cis face. This surface is usually convex and accepts
small transport vesicles from endoplasmic reticulum.
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The opposite surface is trans face. It is concave, faces
cell surface and releases secretary vesicles.
Function : The Golgi complex does the final
modification of protein and other chemicals received
from endoplasmic reticulum, concentrate those
chemicals in vesicle near trans face and finally release
those. They also mark the destinations of released
vesicles, like intracellular use (lysosomes) or extra
cellular use (secretary granules).
Lysosome
Structure : Lysosomes are single membrane bound, rounded vesicles. They are variable in
size ranging from 0.05 to 0.5 µm. Each contains large variety of hydrolytic enzymes. Nature
and number of enzyme depend on the type of cell. On staining the matrix in it becomes
uniform granular.
Function : Lysosome digests foreign substances (living or non-living) invaded into
cytoplasm. They help in normal turn over of organelles by digestion of worn-out or diseased
organelles.
Peroxisome
Structure : Peroxisomes are single membrane bound, rounded vesicles usually ranging from
0.5 to 1.2 µm in diameter. They contain oxidizing enzymes. Stained matrix is homogeneous in
appearance.
Similarity with other organelles : Peroxisomes are larger than lysosomes and the matrix in them
is homogeneous. The enzyme present in matrix is not digestive. Like mitochondria they take
oxygen but they are structurally different and do not produce ATP.
Function : Peroxisome degrades many toxic chemicals and contains enzymes involved in
lipid metabolism.
Ribosome
Structure : Ribosomes are particles of about 20 x 30 nm in size. Each
comprises of 2 subunits, small and large subunits. The units are made of
ribosomal ribonucleic acid (rRNA) and protein molecules.
Function : Ribosomes synthesize protein by binding amino acids in
chain with the help of peptide bonds.
Cytoskeleton
Type : Cytoskeleton is a fine network of three types
microscopic tubular or filamentous structures, which
are named as microtubule, microfilament and
intermediate filament. Actually intermediate filament
is a variety of microfilament.
Microtubule : Microtubules are microscopic tubular,
stiff structures having outer diameter of about 24 nm
and about 5 nm wall thickness. The length of each is
variable. The wall composed of tubulin protein
oriented in serial manner. In each, there are complete
turn of 13 units of protein molecules.

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Microfilament : Microfilaments are microscopic filamentous structure having no lumen
inside. They are composed of globular or filamentous protein molecules e.g. actin and myosin.
The structural protein molecules form chain or bundle tied together by protein molecules.
According to their diameter they may be thin filament (5 to 7 nm in diameter), thick filament
(about 16 nm in diameter) and intermediate filament (10 to 12 nm in diameter). Both thin and
thick filaments are observed in muscle cells. Keratin filaments of epithelium, desmin filaments
of muscle cells, neurofilaments of neurons are intermediate filaments.
Functions :
 Cytoskeleton is responsible for particular shape of the cell and
for maintaining that shape. It can induce change in shape and size
of cell leading to contraction and relaxation or membrane activity
(e.g. exocytosis, endocytosis, formation of pseudopodia etc).
 Cytosketeton helps is intracellular movement of organelles,
vesicles and other components e.g. movement of chromosome
during cell division.
 The microtubules are the basis of structure of centrioles and
skeleton of cilia and flagella.
Centrosome
Structure : Centrosome is a condensed granular area
of cytoplasm containing two tubular structures. The
dense area is called pericentriolar body and the
tubular structures are centrioles. In centrosome the
long axes of centrioles remain perpendicular to each
other. Each centriole is a cylindrical structure with
about 0.05 µm diameter and 0.3 to 0.5 µm in length.
Wall of centriole composed of 9 sets (triplets) of
microtubules attached together by protein link. Three
microtubules of each triplet are united in such a way
that the adjacent microtubules shear a common wall.
Function : Centrosome plays important role in cell division and synthesis of cytoskeleton.

The Nucleus
The nucleus is the central component of the cell and also considered as the double membrane
bound organelle of cytoplasm.
Morphology : The nucleus is usually rounded or oval in shape; but
may be elongated or lobulated. The usual diameter is 4 to 10 m.
Most of the cells are uninucleated. There are cells with more than one
nuclei; but they do not retain their typical cell characteristics. As for
example cannot divide, have some special primary job like
phagocytosis etc. On staining nucleus is basophilic.
Component : The nucleus comprises of nuclear envelope,
nucleoplasm, nucleolus and chromatin.
Nuclear Envelope : The nuclear envelope is a parallel layer of unit
membrane, which separates the cytoplasm from nuclear contents. The

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space between the layers of nuclear envelope is perinuclear cistern.
This cistern is often continuous with that of rough endoplasmic
reticulum. The outer layer of this membrane often bears the attached
poli-ribosome. The nuclear has numerous rounded gaps in it (nuclear
pore). These are selective pathway between cytoplasm and
nucleoplasm. Each pore is guarded by protein molecules making it a
complex structure and together also known as pore complex. These
play an important role in active transport of larger molecules through
the pore. Though the pore is about 80 nm in diameter molecule up to
09 nm can only pass freely though it.
Ribosome
Nuclear pore complex
Nucleolus
Chromatin
Nucleoplasm

Nucleolus : The nucleoli are dense and stronger basophilic areas in the nucleus. They vary in
number, size and are fine granular mass. They receive rRNA and structural proteins and
organize them into small and large subunits of ribosome.
Nuclear matrix / Nucleoplasm : The areas between the nucleoli and chromatins are filled up
with protein, metabolites and ion rich fluid called nuclear matrix. It contains a fine network of
fibrillar structure, nucleo-skeleton.
Chromatin : In the nucleus DNA and protein molecules bound intimately and form long
thread called chromosome. Because of different degree of coiling and folding it produces
differential image under microscope. Those granules are called chromatins. There are two
types of chromatins: eu-chromatin and hetero-chromatin. The hetero-chromatins are electron
dense coarse granules under electron microscope and appear as basophilic clumps under light
microscope. Eu-chromatins are finely dispersed granular materials under electron microscope
and lightly basophilic areas under light microscope. The eu-chromatic areas contain relatively
less coiled or less condensed parts of chromosomes and the areas are more active.

Cytoplasm
Nucleus
Nucleolus
Heterochromatin

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 Chromosome
The chromosomes are long, intensely coiled, thread like structures present in the nuclei of
cells. Their number in a cell is specific for the species. In human cell there are 46
chromosomes forming 23 pairs.
Karyotype
The study of the number and characteristics of chromosomes is known as karyotype.
Morphology of chromosome is best studied during cell division, specially when the dividing
cell is in metaphase stage of mitosis. In laboratory, cells are arrested at that stage of division by
adding colchicines in culture media. There is one pair of chromosome responsible for
determination of sex of the organism and are called sex chromosomes or gonosomes. Rest 22
pairs are called autosome. Members of each pair of chromosome are similar and according to
their morphological characteristics (by order of decreasing length) they are numbered serially
from 1 to 22. Two sex chromosomes are similar in female cells and each is named as X
chromosome. But the two sex chromosomes of each male cell are dissimilar in morphology.
The larger one is similar to X chromosome of female and smaller one is called Y chromosome.
So female cells are called homo-gametic cells and male cells are hetero-gametic cells.

Morphology (at metaphase) : Each chromosome comprises of two

identical chromatids joined together at a constricted area called
primary constriction. The primary constriction contains relatively
pale stained area, the centromere, common to both chromatids. Each
chromatid is divided into two arms by primary constriction. Both
arms may be equal or unequal or one may be absent because of
position of centromere. According to the positions of centromere, the
chromosomes are morphologically classified into :
 Metacentric - centromere at the centre
 Submetacentric - centromere close to the center
 Acrocentric - centromere closer to the end
 Telocentric - centromere at the end

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Some chromosomes contain another constriction near the end in both chromatids. This is called
secondary constriction. This separates small part of chromatid and is known as satellite or
satellite body. As it is associated with formation of nucleolus, it is also termed as nucleolar
organizing center. In humans, chromosomes number 13, 14, 15, 21 and 22 are examples of
satellite chromosomes.
Grouping : In karyotype following groups are made as per the morphological characteristics
 Group A: chromosomes 1-3 are largest with median centromere (Metacentric large)
 Group B: chromosomes 4-5 are large with submedian centromere (Submetacentric large)
 Group C: chromosomes 6-12 are medium with submedian centromere (Submetacentric
medium)
 Group D: chromosomes 13-15 are medium with acrocentric centromere (Acrocentric
medium)
 Group E: chromosomes 16-18 are short with median or submedian centromere
(Metacentric / Submetacentric short)
 Group F: chromosomes 19-20 are short with median centromere (Metacentric short)
 Group G: chromosomes 21-22 are very short with acrocentric centromere (acrocentric
short)
 Chromosome X is similar to group C (Submetacentric medium)
 Chromosome Y is similar to group G (acrocentric short)
Functions : Chromosome contains hereditary instructions in them. The characteristics of
organism depend on the expression of the chromosome. All biological activities of the living
bodies are initiated in and controlled by chromosome.
Structure : Chemically chromosome comprises of
 DNA and
 Protein
DNA : Each chromosome has two chains of DNA running parallel in opposite direction. Each
chain is a series of pentose sugar (deoxyribose) molecules linked by phosphoric acid bridges.
The sugar molecules are linked to the bases by hydrogen bonds. There are four bases. Two of
them are purines – adenine and guanine; rests two are pyrimidines – cytosine and thymine. The
base containing side of DNA chain of chromosome faces each other and bases are so
positioned that adenine of one chain linked to thiamine of other and guanine to cytosine.

-S–P–S–P–S–P–S–P–S–P–S–P–S–P–S–P–S– DNA chain

I I I I I I I I I
A G T A C G T T G

T C A T G C A A C
I I I I I I I I I
-S–P–S–P–S–P–S–P–S–P–S–P–S–P–S–P–S– DNA chain

S = Sugar (Deoxyribose) P = Phosphoric acid

A = Adenine T = Thymine G = Guanine C = Cytosine
Protein : In chromosome double helix of DNA is twisted around protein molecules and also
covered by proteins. These protein molecules not only provide structural stability but are also
responsible for chromosomal expression.
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DNA Condensation
The total length of DNA in the nucleus of a non-dividing human cell is about 1 meter.
Chromosomes are visible as individual structures only during mitosis, with individual
chromosomes ranging in size from 3 to 7 μm which indicate that considerable packing and
unpacking occurs during cell division.
The thickness of the DNA double helix is estimated at about 2 nm.
The fundamental, basic subunit of
chromosome structure is the
nucleosome, which is made of DNA
and histones and which divides the
DNA into units of approximately 200
bp in length. Nucleotides are molecules
that, when joined together, make up the
structural units of RNA and DNA. Whereas subunit of chromatin
comprising of a short length of DNA wrapped around a core of
histone proteins is called nucleosome.
At the molecular level, each chromosome is a
repetition of nucleosomes and shorter segments of
DNA that link the individual nucleosomes.
A nucleosome consists of 147 bp of DNA wound
1.75 times around a core histone octamer. Such a
core histone octamer consists of two copies of
each histones H2A, H2B, H3, and H4. The histone
octamer forms a cylinder 10 nm in diameter and 6
nm in height.
Nucleosomes are organized
on a continuous DNA helix in
linear strings separated by 10-
60 bp of linker DNA. On
electron microscopic photo-
graphs they have a ‘string of
beads’ appearance.
The 30-nm fibers form part of
a chromosome segment about
300 nm in diameter. A further
packing on metaphase
chromosomes is represented
by a thickened segment, also
called a condensed chromo-
somal segment, with a
diameter of 700 nm. A
multitude of these segments
make up the chromatids of
metaphase chromosomes.

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 Cell Cycle
Almost all types of normal cells proliferate only if they receive appropriate signals to divide,
which initiates a complex cycle of growth and division, referred to as the cell cycle.
The mammalian cell cycle can be divided into four
phases. The mitotic phase (M) is a relatively short
period which alternates with the much longer
interphase where the cell prepares itself for the next
cell division. Interphase is divided into three phases:
G1 (first gap), S (synthesis), and G2 (second gap). A
fifth phase, G0 exists that is resting, non proliferative
state of cells.
During interphase cells remaining in the active
growth-and-division cycle and prepare for the next
division. This preparation includes, for example, the duplication of macromolecular
constituents which will later be equally distributed to the two daughter cells.

Phases Duration and Activity

G1 Phase Duration: Very variable and ranges from a few hours to years and may be
absent even. Usually 12 to 15 hours

 Usual protein synthesis

 Cell continue to grow during G1 and attain the adult size and activity level
 Mitogenic growth factors push the cell to S phase. In the absence of those a
cell proceeds into the G0 (quiescent stage).
S Phase Duration: Usually 6 to 8 hours, but may be much shorter in certain cell types,
such as rapidly dividing embryonic cells or lymphocytes

 Usual protein synthesis

 DNA replication takes place to make chromosome exactly duplicate. At the
end of replication two identical chromatids are formed and remain attached
with each other at one point known as centromere.
 The synthesis of structural protein of chromosome, mostly the histon
protein increases.
G2 Phase Duration: Usually 3 to 5 hours
 Cells conserve energy required for cell division.
 Duplication of centrioles of centrosome is completed
G0 Phase Duration : Till death of cell
 Usual protein synthesis continue for survival of cell itself and its normal
functions
 Non proliferative state of cells, which have withdrawn from the active cell
cycle
 Can be reversible if the cell is again exposed to mitogenic growth factors.
M Phase Duration: The shortest phase takes about 1 to 3 hours

 has five sub-phases (prophase, prometaphase metaphase, anaphase, and

telophase)

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 Cell Division
Division of cell is a process by which parent cell divides into daughter cells. Number and
structural characteristics of all the organelles of cytoplasm vary from cell to cell. But
chromosomes present in the nucleus are same in all normal cells. So division process of
nucleus (Karyokinesis) is important and completed in a complicated procedure than that of
Cytoplasm (Cytokinesis). Nuclear division of eukariotic cells occurs in two ways : Mitosis
and Meiosis. The process can be observed under light microscope.

Mitosis
Phases Activity
Prophase In Nucleus :
 Chromosomes coil upon themselves and become thick and short.
Gradually chromosomes become identifiable as two parallel chromatids in
one chromosome fused at centromere.
 At the end of the phase the nucleolus disappear and nucleolar membrane
disintegrates forming small vesicles.
In Cytoplasm :
Simultaneously centrioles separate and each migrates to the opposite pole of
the cell. By synthesis of the microtubules running between centrioles,
mitotic spindle is formed.
Metaphase  Mitotic spindle occupies the central part of the cell.
 Free chromosomes move to the equatorial region of the cell. Centromeres
of chromosomes remain attached to the microtubules of the spindle.
Anaphase  Centromere of each chromosome splits lengthwise making the sister
chromatid separate.
 Each chromatid of a chromosome then moves to the opposite pole with
the help of microtubule.
Telophase  Chromatids aggregate at the poles.
 Nuclear envelope reappears, chromatids (now complete chromosome)
extend and finally nucleolus appears.
Cytokinesis  Cytoplasmic division starts at anaphase as an in-folding of plasma
membrane (cleavage furrow) at equatorial region.
 The division is completed during telophase.
 The organelles are distributed randomly and almost equally.

Prophase Metaphase Anaphase Telophase

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 G2 of Interphase Prophase

Metaphase Anaphase Telophase & Cytokinesis

Meiosis
Meiosis cell division occurs in two stages: meiosis I and meiosis II. Each stage has four
phages. Prophase of first meiosis is the most complicated phase and is completed in five
stages.
Activities of Meiosis I
Phases Activity
Prophase I Leptotene stage :
 Chromosomal condensation occurs due to coiling
and folding of chromosome.
 They assume beaded appearance throughout the
length. One end of each chromosome remains
attached to the nuclear membrane.

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Phases Activity
Prophase I Zygotene stage :
contd..  Pairing point for point: Homologous
chromosomes of each pair come closer (bivalent
state) and corresponding regions come in contact
(pairing point for point).
 Synaptonemal complex formation: The
homologous chromosomes held together by fibrous
bands
 In case of male cells the sex chromosomes are not similar and cannot
form pair point for point. They remain in vesicle called sex vesicle.
Pachytene stage :
 Tetrad formation: Chromosomal coiling and
condensation continue. Two chromatids of each
chromosome are now visible. So each bivalent pair
shows 4 chromatids (tetrad formation).
 Crossing over or decussation: One of the
chromatids of each chromosome of bivalent pair
coils partially upon each other (crossing over or
decussation). Chemical interaction between
chromatids occurs. The sex chromosomes still
remain in sex vesicle.
Diploene stage :
 Chiasmata formation: Chromosomes are
much shortened and progressively separated from
each other except crossing over sites (chiasmata).
Diakinesis stage :
 Homologous chromosomes move away from
each other and chiasmata resolve. Of course they
still remain in bivalent (pair) state.
 The nucleolus disappears and finally nucleolar
membrane disintegrates forming small vesicles.
In Cytoplasm :
Simultaneously centrioles (red arrows) separate and each migrates to the
opposite pole of the cell. By synthesis of the microtubules running between
centrioles, mitotic spindle is formed.
Metaphase I Mitotic spindle occupies the central part of the cell. Free chromosomes
move to the equatorial region of the cell. Centromeres of chromosomes
remain attached to the microtubules of the spindle.
Anaphase I Centromere of each chromosome splits lengthwise making the sister
chromatid separate. Each chromatid of a chromosome then moves to the
opposite pole with the help of microtubule.
Telophase I Chromatids aggregate at the poles. Nuclear envelope reappears, chromatids
(now complete chromosome) extend and finally nucleolus appears.

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 Cytokinesis  Cytoplasmic division starts at anaphase as an in-folding of plasma
membrane (cleavage furrow) at equatorial region.
 The division is completed during telophase.
 The organelles are distributed randomly and almost equally.
Meiosis II: The sequence of second meiotic division is same as mitotic division. At the end of the
procedure each cell produces two daughter cells.

Characteristics and Results of Cell Division

Mitosis
 Because of replication before cell division total amount of DNA in chromosomes
duplicates but their number remains the same. Symbolically chromosome number and
DNA amount are respectively indicated by 2n (diploid) and 4n (tetraploid).
 In mitosis the procedure is completed in single stage containing several phases and all
chromosomes split each forming two. So the division produces 2 daughter cells with same
number (2n) of chromosomes and half of DNA amount of parent cell i.e. 2n.
 The daughter cells produced by mitosis can proceed to cell division again.
 During mitosis exchange of DNA material does not occur.

Meiosis
 The procedure of meiosis cell division is more complicated than mitosis. Of course the
mother cell enters into meiosis division with 2n (diploid) number of chromosome and 4n
(tetraploid) amount of DNA like mitosis.
 Meiosis cell division is completed in two stages and mother cell divides twice. So by
this type of division one cell produces four daughter cells.
 Each chromosome splits once in whole procedure. So 2n number of chromosomes of
mother cell is distributed to four daughter cells and become n number of chromosomes.
Total 4n amount of DNA of mother cell is also equally distributed to daughter cells and so
become n amount of DNA in each cell.
 In meiosis exchange of DNA material occurs and takes place during prophase I.
Because of this redistribution, daughter cells are dissimilar to mother cell.
 The daughter cells produced by meiosis cannot proceed to further cell division.

Anomaly of Cell Division

During division cell becomes vulnerable to injury and various chromosomal anomalies may
develop during that period. Those chromosomal anomalies may be numerical or structural.
Anomaly observed more in meiotic cell division, in female and in advanced age.
Chromosomal numerical anomaly
This is most common type of anomaly observed. Anomaly occurs due to failure of
chromosome to short properly during cell division and is due to non-disjunction of chromatids
or pair of chromosomes at proper moment. In mitosis delay in splitting may lead to formation
of two cells one with 45 chromosomes and other with 47 chromosomes. In meiosis, when

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occurs in first meiotic division, all the 4 daughter cells are abnormal. When one of the daughter
cells is affected during second meiotic division, finally produces 2 normal daughter cells and
rest 2 are affected.
Chromosomal structural anomaly
Various types of structural anomalies may develop during cell division. Stable, heritable
change in the nucleotide sequence of DNA is called Mutation. Change of sequence of bases in
the DNA chain of chromosome leads to development of new characteristics. Deletion,
translocation and inversion are relatively common forms of mutation. Some of the anomalies
are discussed below :
 Deletion: Loss of segment of chromosome, either interstitial or terminal
 Translocation: Mutual exchange between terminal segments from the arms of two
chromosomes. There is no loss or alteration at the point of exchange.
 Inversion: Here segment of chromosome breaks and rejoins with the chromosome
effectively inverting it.
 Insertion: An interstitial segment of chromosome is deleted and transferred to a new
position in some other chromosome or in same chromosome.
 Ring: Formation of circular structure due to deletion and rejoining is ring formation.
 Iso-chromosome: Loss of a complete arm of a chromosome followed by replacement
duplication of the other arm is iso-chromosome formation.
 Duplication: A segment of chromosome is repeated once or several times.

Some Terms Related to Genetics

RNA
Ribonucleic acid (RNA) is a type of nucleic acid. Like DNA it is also a long chain molecule
comprises of ribose sugar, phosphoric acid and nitrogen carbon ring bases. Ribose molecules
are linked together by phosphoric acid bonds. There are four types of bases: adenine, guanine,
cytosine and uracil. One of those bases randomly remains attached to each of the sugar
molecule by hydrogen bond. There are three main types of RNA observed in cells:
Messenger RNA (mRNA)
Ribosomal RNA (rRNA) and
Transfer RNA (tRNA).
All these RNA participate is the decoding process and synthesis of protein as per information
printed on DNA molecules.
Ploid: In each human cell there are 23 pairs of chromosomes. That means 2 sets of
chromosomes, each containing 23 chromosomes. One set of chromosome is called ploid. So a
normal cell contain 2 sets of chromosomes is a diploid cell.
Barr body: Each female cell contains two X chromosomes, one of
them remain inactive. Inactive X chromosome remains tightly coiled
and produce darkly stained visible dot. On careful study of female cell
under light microscope this inactive chromosome can be observed as
heterochromatic body at the inner surface of nuclear membrane. This is
called Barr body or sex chromatin. This produces drum steak like
protrusion from the nuclear surface in neutrophil.

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Gene: The sequence of position of bases in the DNA chain is the basis of genetic code.
Starting from the end the sequence of adjacent 3 bases together form a code and specifies an
amino acid or a signal like termination of synthesis of a polypeptide. This is called codon.
Certain number of adjacent codons forming a segment of DNA can regulate synthesis of
protein leading to expression of a characteristic. This sequence of bases along the DNA stand
that codes for the synthesis of a protein is called gene. The position of a particular gene is
always fixed for a species; like position of blood group determining gene. A unique
chromosomal location defining the position of an individual gene is call gene locus.
Allele: Allele is an alternate form of gene. This is any one of two or more alternate forms of a
gene located at same locus of a pair of chromosome.
Recessive Gene: Recessive gene is a gene which must be present on both chromosomes in a
pair (allele) to show outward signs of certain characteristics.
Dominant gene: Dominant gene is a gene, presence of which on one chromosome in a pair
(allele) is enough to express outward signs of certain characteristics.
Karyotype: Karyotype is a photomicrograph of an individual’s chromosome arranged in a
standard format showing number, size and shape of each chromosome type.
Genotype: Genotype is the genetic constitution of an individual.
Phenotype: Phenotype is the physical characteristics of a cell or organism as determined by
the genetic constitution e.g. brown colour eye.
Trait: Trait is a detectable phenotypic property of an organism.
Hybrid: Hybrid is an offspring of genetically different parents.
Telomere: Telomeres are specialized sequence of DNA that are found at the tips of the
chromosomes. They serve as a kind of a cap and prevent the ends of chromosomes from
attaching to the ends of other chromosomes. Telomeres may influence the activity of nearby
genes and may have role in determining the life span of the cell.
Genetic linkage map: Genetic linkage map is a chromosome map showing relative positions
of known gene on chromosomes of a given species.
Exon: Exon is the segment of a chromosome which is decoded to synthesize mRNA.
Cloning: Cloning is the process of making genetically identical copies.

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