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SKN COLLEGE O AGRICULTURE :JOBNER

(SKN AGRICULTURE UNIVERSITY:JOBNER)
FUNDAMENTALS OF GENETICS
GPB- 121 (2+1)

Class: B.sc(hons.)Agriculture Part I Sem. II (2017-

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1 Pre and Post Mendelian concepts of heredity 1
2 Mendelian principles of heredity 1
3 Cell division – mitosis 1
4 Cell division – meiosis 1
5 Probability and Chi-square 1
6 Dominance relationships and gene interaction 1
7 Epistatic gene interactions with examples ycomplementary,
supplementary, duplicate gene interactions) 1
8 Epistatic gene interactions with examples ymasking, inhibitory,
polymeric and additive gene interactions) 1
9 Pleiotropism, pseudoalleles, Multiple alleles and Blood group genetics 1
10 Sex determination 1
11 Sex limited, sex influenced and sex linked traits 1
12 Sex linkage 1
13 Linkage and its estimation 1
14 Crossing over : introduction & mechanisms 1
15 Chromosome mapping 1
16 Structural changes in chromosome 1
17 Numerical changes in chromosome 1
18 Mutation: introduction, characteristics & classification 1
19 Mutagenic agents: physical and chemical mutagens 1
20 Induction of mutation, Methods of inducing mutation & CIB technique 1
21 Qualitative & Quantitative traits, Polygenes and continuous variations 1
22 Multiple factor hypothesis 1
23 Cytoplasmic inheritance 1
24 Genetic disorders 1
25 Nature, structure and types of genetic material 1
26 Proof for DNA as genetic material 1
27 Replication of genetic material 1
28 Genetic code & Protein synthesis 1
29 Transcription mechanism of genetic material 1
30 Translational mechanism of genetic material 1
31 Gene concept: Gene structure and function 1
32 Gene regulation, operon concept, Lac and Trp operons 1

INTRODUCTION
Genetics is the scientific study of inherited variation.
Human genetics is the scientific study of inherited human variation. This field
has
been energized in recent years by the Human Genome Project. Scientists expect
that the project will lead to the development of new drugs targeted to specific
genetic disorders. Increasingly, modern genetics involves genetic engineering; a
technique used to manipulate genes and has produced many advances in medicine.
Cytology (Greek words, Kytos = hollow vessel or cell; logous = to
discourse) or cell biology is the biological sc ience which deals with the
study of structure, function, molecular organization, growth,
reproduction and genetics of the cells.
Genetics is the biological science which deals with the mechanism of
heredity and causes of variations in living beings. The word genetics
was derived from the Greek root gen which means to become or to
grow into and it was coined by Bateson in 1906.
Cytogenetics is a branch of genetics that correlates the structure,
number and behaviour of chromosomes with heredity and variation.
The term genetics was first coined by W. Bateson in 1905, although
beginning of the science of genetics was made in 1900 by rediscovery
of Mendel‟s work.
The word genetics was derived from the Greek root ‟Gen‟ which means
„to become‟ or „to grow into‟. Genetics is often described as a biological
science, which deals with the principles of heredity and variation.
Heredity refers to the transmission of characters from parents to their
offspring.
variation :the differences among the individuals of a species for a
character constitute the variation. The variations are mainly of two types
namely i) heritable (genetic), ii) nonheritable (environmental).
Heredity variation refers to differences in inherited traits. These types of
variations are found not only in progenies of parent, but also
transmitted from generation to generation. Environmental variation is
temporary and not inherited to next generation.
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The foundation of this new branch of biology – genetics was laid by Mendel in
1866 when he discovered the basic principles of heredity. However, Mendel‟s
findings came into light only in 1900, when similar results were obtained
independently by three scientists, viz., Hugo de Vries, Carl Correns and
Von Tschermak. Thus, genetics was born in 1900.
PRINCIPLES OF GENETICS
The site where genes work is the cell.
Each cell’s function within an organism is determined by the genetic
information encoded in DNA.
In eukaryotes (organisms whose cells contain a nucleus), DNA
resides within membrane-bound structures in the cell (nucleus,
mitochondria, and chloroplasts in plants).
In prokaryotes (one-celled organisms that lack internal membranebound
structures), DNA floats freely within the cell body.
DNA is packaged into structures called chromosomes within a cell.
Every chromosome in a cell contains many genes, and each gene is
located at a particular site, or locus, on the chromosome.
Chromosomes usually occur in matched pairs called homologues.
The number of homologous chromosomes in the human body contain
23 pairs of chromosomes.
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LECTURE:1
Pre and Post Mendelian concepts of heredity
1. Pre – Mendelian ideas about heredity
In ancient times, there were speculations on the nature of heredity. Early
philosophers and workers had forwarded various ideas or theories to
explain the phenomenon of inheritance.
They are briefly presented below.
I)Vapour and fluid theories:
Early Greek Philosophers like Pythagoras (500 B.C) proposed the theory
that a moist vapour descends from the brain, nerves and other body parts
of the male during coitus and from this, similar parts are formed in the
uterus of the female forming the embryo. Empedocles proposed the theory
that each parent produces „a semen‟ which arises directly from various
parts of the body. In embryos the various parts are formed by this semen.
Aristotle thought that the semen of man has some “Vitalizing” effect and he
considered it as the highly purified blood. According to him the mother
furnishes inert matter and the father gives the life-giving power, “dynamic”
to the new life.
(ii) Preformation Theory
The theory was proposed by two Dutch biologists, Swammerdam and
Bonnet (1720-1793). This theory states that a miniature human called
„homunculus’ was already preformed in the egg and sperm. The
development of zygote resulted only in the growth of a miniature human who
was already present in the egg and sperm. However, this theory was rejected
because this could not be proved scientifically.
(iii) Theory of Epigenesis
This theory was proposed by Wolf (1738-1794), a German biologist and it
states that egg or sperm cells do not contain miniature human but that the
gametes contained undifferentiated living substance capable of forming the
organized body after fertilization. This proposition was called as epigenetic
concept and remained universally accepted.
(iv) Theory of Acquired characters
This concept was proposed by Lamarck (1744-1829), a French biologist.
Thistheory states that a new character once acquired by an individual shall
pass on to its progeny. This theory was disproved by Weismann.
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He cut the tail of mice for successive generations and always got the baby
mice with tail. Thus, this theory was rejected.
(V) Theory of Pangenes:
This theory was proposed by Charles Darwin (1809 – 1882), an English
naturalist. According to him, each part of the animal body produces a minute
copy of its own, called gemmule or pangene. The gemmules are collected in
the reproductive organs. The gemmulues were passed on to the gametes.
The young one formed from the gametes would be having all the gemmules
characteristics of the parents, and will represent a blending of the qualities of
its two parents. Thus, theory of pangenesis is also known as the „theory of
blending inheritance’.
(vi) Germplasm Theory:
This theory was advocated by August Weismann (1834-1914), a German
biologist. According to this theory, organism‟s body contains two types of cells
namely somatic cells and reproductive cells. The somatic cells form the body
and its various organ systems, while the reproductive cells form sperm and
ova. The somatic cells contain the „somatoplasm‟ and reproductive cells
contain the „germplasm‟. The germplasm can form somatoplasm, but
somatoplasm can not form germplasm.
The cells of the somatoplasm become differentiated during the formation of
the complex organs of the body while cells of the germ cells remain
undifferentiated and retain their power to generate new life.
The germplasm thus goes on in continuous stream from generation to
generation. Changes in the somatic cells (somatoplasm), which were caused
by the environment, cannot influence the germplasm and hence acquired
characters are not inherited.
II. Pre- Mendelian experiments
Knight (1779) conducted experiments on pea much before Mendel but failed o
formulate the laws of inheritance because he could not use the mathematics to
his results. He crossed pigmented variety with unpigmented variety and F1 was
pigmented. When F1 was selfed, F2 showed pigmented and non-pigmented
plants. Since he did not keep record on different types, he could not discover the
mechanism of inheritance.
J.Kolreuter (1733-1806), a German botanist performed hybridization
experiments in tobacco and compared the hybrids with their parents. He
demonstrated that the hybrids may resemble one or the other parent or may be
intermediate between them. He also showed that both the parents make equal
contributions to the hybrids.
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Gartner (1772-1850) and Naudin (1815-1899) done experiments similar to
Kolreuter and they observed the similar results. However they could not apply
mathematics to their results.
Post-Mendelian Concepts of Heredity: The basic principles of heredity were
initially discovered by Mendel in 1866 and rediscovered by three scientists de
Vries, Correns and Tschermak in 1900. Later on these principles were further
clarified and confirmed by several workers and some new concepts of heredity
were discovered. These new concepts were different from the findings of Mendel.
These concepts are often referred to as ―Mendelian Deviations‖ or exceptions or
anomalies.
LECTURE:2 Mendelian principles of heredity
Reasons for Mendel’s Success: Mendee’s success may be attributed to a
combination of euck, foresight, mathematicae background and his scientific aptitude.
The reasons for Mendee’s success are as foeeows:
1. Mendee studied the inheritance of one character at a time uneike his predecessors
who considered the organism as a whoee.
2. Lie carried out his experiments upto F2 and F3 generations.
3. His knoweedge in statistics heeped him to maintain accurate records of aee the
experiments of findings and anaeysed them carefueey.
4 He grew pure eines in separate peots and conducted experiments by crossing two
peants from pure strains.
5. The parent peants undergoing crossing beeonged to pure eines and had sharpey
visibee contrasting characters6. He seeected geneticaeey pure peants for his
experiments
by performing a series of seee crossing tests.
7 Aee this geneticae experiments were conducted with utmost care and meticueous
peanning.
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Mendelian Laws of Heredity:
1. Principle of Unit Characters: Mendel assumed that the unit of hereditary
characters is the factors of determiners which occur in pairs. One of each
comes from the mother while the other comes from the father. The unit
character or factor is now called as gene.
2. Law of Dominance: When a pair of contrasting characters (or
allelomorphic characters or alleles) are present together, only one of them
expresses itself and the other remains suppressed of hidden The character
which is expressed (or is visible) is called as dominant and the character
which remains hidden is termed as recessive.
3. Law of Segregation or Purity of Gametes: The allelic factors or genes
present together in the hybrids segregate (separate) from one another and are
placed in different gametes in the next generation.
4. Law of Independent Assortment: When two or more pairs of contrasting
characters are taken into consideration in a cross, each factor, assort or place
itself independently of the other (lining its passages from on; generation to the other.
Mendelian Terminology:
1. Genotype and Phenotype: Genotype refers to the genetic makeup or genetic
constitution of an organism. Phenotype indicates the external appearance of an
organism. TT and Tt are phenotypically same tall plants but genotypically different as
one is pure tall (TT) and other is hybrid tall (Tt).
5. Gene:It is the unit of inheritance representing a particular characteristic. It is located
in the chromosome and formed of a DNA segment. It was termed as factor or
determiner.
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2. Homozygous and Heterozygous: Every organism possesses two genes (alleles)
for every character. If in an organism the two genes (alleles) for a particular character
are identical (for example TT or tt), it is said to be pure or homozygous (homo = the
same, zygo = a pair). If the organism possesses contrasting genes (alleles) for a
particular character (for example Tt), it is said to be impure or heterozygous (hetero =
different, zygo = a pair).
3. Dominant and Recessive: A heterozygote possesses two contrasting genes (say
‗Tt‘), but only one of the two is able to express itself (tallness), while the other remains
hidden (dwarfness). The gene which is able to express in 1, hybrid (here ‗T‘) is known as
dominant gene, while the other gene which is unable to express itself (here‘t‘) in the
presence of dominant gene is called as recessive gene.
4. Allele or Allelomorph: Mendel stated that two genes (factors) representing two
alternatives of a character are present on two separate chromosomes of a homologous
pair but at the same loci or position. For example, in a gene pair Tt, T is present on one
chromosome and t on the other chromosome but at the same locus or position. Each of
them is called an allel to the other (T is an allel to t and vice versa).
6. Hybrid: A progeny resulting from a cross between two parents differing at least in a
single character.
7. Reciprocal Cross: It is the second cross involving same genotypes as first cross but
the sexes are reversed. If the first cross is Tall (female) x Dwarf (male), then the second
or reciprocal cross will be Tall (male) x Dwarf (female).
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A.Monohybrid Cross:
In a monohybrid cross the two parents differ through a single character. Mendel
took a tall pea plant and crossed with a dwarf plant.
He transferred the pollen grains of tall pea plants and placed them on the stigma
of the dwarf pea plant and vice versa. To prevent self pollination he earlier
removed all stamens from the flowers of the dwarf plant. Mendel noticed that all
the progenies of F) or first filial generation were tall plants. This gave him the
clue to state the Law of dominance.
According to this law, out of a pair of contrasting characters (tallness and
dwarfness) one character (tallness) appeared in the F, generation and the other
character (dwarfness) remained hidden or suppressed. The character which
appeared in Ft generation is called dominant and the other character remained
hidden is called recessive character. These two contrasting characters are known
as allelomorphic characters or allelomorphs or alleles (Fig. 5.2).
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Mendel now allowed the plants to self pollinate and produce F2 or second filial
generation of plants. Among F2 plants he observed tall as well as dwarf plants in the
ratio 3:1. This ratio is monohybrid ratio. The recessive character (dwarfness) which was
hidden in the F1generation appeared in F2 generation.
Among the F2 tall plants 1/3rd were pure tall and the remaining 2/3rd were hybrid tall
behaving like the plants of F2 generation. The recessive dwarf plant bred true. Thus, the
F2 ratio are classified into two categories: Phenotypic ratio (3 tall: 1 dwarf) and
Genotypie ratio (1 pure tall: 2 hybrid tall: 1 pure dwarf).
In the parental generation both tall (TT) and dwarf (tt) plants have similar alleles of
gene and hence called homozygous plants. The F1plants have different alleles of the
same gene (Tt) and hence known as heterozygous plants. Mendel represented the
dominant factor through the capital letter and recessive factor by means of small letter.
Thus, pure tall plant will be TT and dwarf plant will be represented by tt.
1.Law Of Segregation or Purity of Gametes:
According to this law the F1 plants have both the factor T and t which never fuse or mix.
When such plants form gametes, the factors T and l separate from each other and enter
separate zygotes. Thus, in the F2generation dwarf plant appears, besides true tall and
hybrid tall plants.
B.Di-hybrid Cross:
In a di-hybrid cross the parents differ through two characters. Mendel conducted a cross
between a true breeding Round Yellow plants (RRYY) with true breeding Wrinkled
Green plant (rryy). Round and Wrinkled are the shapes of seed coat whereas Yellow and
Green are the colours of the seed coat.
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Mendel observed the seeds of the Fj plants were all Round and Yellow. This showed
Round and Yellow were dominant over Wrinkled, Green. In the Fv generation four types
of combinations were observed such as Round Yellow, Wrinkled Yellow, Round Green
and Wrinkled Green. Thus the above types of offspring‘s of F2generation were produced
in the ratio of 9:3:3:1. This ratio is called Di-hybrid ratio (Fig. 5.3).
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Lecture:3 Cell division – mitosis
1875 E. Strasburger Discovered cell division in plants and gave the terms “
cytoplasm ” and “ nucleoplasm ”.
CELL DIVISION: All the cells are produced by division of pre-existing cells.
Continuity of life depends on cell division. In the cell division, the division of
nucleus is called karyokinesis and division of cytoplasm is called cytokinesis.
Definition of Mitosis: The term mitosis was coined by Flemming in
1882. Mitosis refers to the spindle using nuclear division which produces two
identical daughter nuclei from the parent nucleus. Since mitosis occurs in
somatic cells, it is also known as somatic cell division
Features of Mitosis:
The important features of mitosis are briefly described below:
1. Mitosis leads to production of two daughter cells from a mother cell in each cycle of
cell division. In other words, nucleus divides once in each cell cycle.
2. The daughter cells are similar to the mother cell in shape, size and chromosome
complement. Since the chromosome number is the same in the daughter cells as
compared to that of mother cell, this is also known as homotypic or equational division.
3. In plants, mitosis takes place in somatic organs like root tip, stem tip and leaf base. It
leads to growth of vegetative parts.
4. The complete process of mitosis consists of only one homotypic or equational
division.
5. Segregation and recombination do not take place during mitosi
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Cell Cycle:
The period in which one cycle of cell division is completed is called cell
cycle. A cell cycle consists of two phases, viz. 1. interphase and 2. mitotic
phase. Interphase is generally known as DNA synthesis phase and mitotic
phase refers to the period of nuclear division. The time required for
completion of cell cycle differs from species to species (Table 3.1).
A. Interphase:
Interphase consists of G1, S and G2 sub phases. G1 is the resting phase, S is
the period of DNA replication and G2 again is a resting stage after DNA
replication.
A brief description of G1, S and G2 is given below:
G1: It is a pre-DNA replication phase. Thus, this a phase between telophase and S phase.
This is the longest phase which takes 12 hours in Vicia faba (Fig. 3.1). Protein and RNA
syntheses take place during this phase.
S: This phase comes after G1. The chromosome and DNA replications take place during
this phase. This phase takes lesser time than G1. In Vicia faba, it takes six hours.
G2: This is the post-DNA replication phase. This is the last stage of interphase. Protein
and RNA syntheses occur during this stage. This phase also takes 12 hours in Vicia faba.
However, time required for completion of all these stages differs from species to species.
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B. Mitotic Phase:
The M phase lead to separation of replicated DNA into two daughter nuclei
without recombination. Thus, the daughter nuclei have the same
chromosome combination as that of parent nucleus. The M phase consists
of four stages, viz., 1. prophase, 2. metaphase, 3. anaphase and 4. telophase
1. Prophase: Prophase starts immediately after G2 stage of interphase.
Chromosomes look like thin thread and uncoiled in the early prophase (Fig.
3.2B), but become shortened, coiled and more distinct during midprophase
(Fig 3.2C).
In the late prophase, chromosomes appear more conspicuous, short and
thick and longitudinally double (Fig. 3.2D). The two chromatids of each
chromosome held at centromere are visible under light microscope. The
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nucleolus becomes smaller in size. The nuclear membrane and nucleolus
disappear at the end of prophase.
2. Metaphase:
This phase begins after prophase. The spindle tubes are formed and
chromosomes are oriented in the centre at equatorial plate. Chromosomes
are attached to the spindle tubes at the centromere. Chromosomes are
clearly visible at metaphase. Sister chromatids of each chromosome are
joined together at the point of centromere, but their arms are free (Fig.
3.2E).
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3. Anaphase:
This is the phase when chromatids separate at the centromere and move
towards opposite sides or poles. Chromatids of each chromosome become
free at the centromere, but each chromatid is attached to spindle tube.
These chromatids suddenly move apart, one goes to one pole and the other
towards the other pole. After separation each chromatid becomes a
chromosome (Fig. 3.2F).
4. Telophase:
When chromosomes reach the pole, the last stage, telophase begins. The
spindle tubes disintegrate, a new nuclear membrane is formed at each pole
covering the chromosomes. The nucleoli also reappear at each pole.
Cytokinesis:
The division of nucleus is known as karyokinesis. It is followed by division
of cytoplasm, which is known as cytokinesis. The division of cytoplasm into
two daughter cells may take place in two ways. In plants, the division of
cytoplasm takes place due to formation of cell plate.
Significance of Mitosis:
1. Mitosis results in the formation of two daughter cells identical with that
of the parental cell.
2. By this process, DNA, the main component of chromosomes, is
distributed equally among the two newly formed nuclei
.
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4. The number of chromosomes remains the same from one generation to
another generation.
3. Both the daughter cells formed after mitosis are identical and have the
same genetic constitution, qualitatively as well as quantitatively, as the
parent cell.
5. Resulted daughter cells have the same characters as were present in the
parent cell
6. The characters of the plants grown by vegetative reproduction may be
preserved for a long period.
LECTURE: 4 Cell division – meiosis
The term meiosis was coined by J.B. Farmer in 1905. This type of division
is found in organisms in which there is sexual reproduction.
The term has been derived from Greek word; Meioum = diminish or
reduce. The cells that undergo meiosis are called meiocytes.
Meiosis’ consists of two successive divisions of the diploid
mother nucleus, that are:
(i) meiosis division I in which the diploid chromosome number (2n) is reduced to
haploid chromosome number n, and (ii) meiosis division II which is a mitotic division.
Meiosis Division I:
In this division the chromosomes are reduced to half, and therefore this is a
reduction division.
Meiosis division I is divisible into four major stages (Prophase I,
metaphase I, anaphase I and telophase I) which are briefly
discussed below:
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1. Prophase I:
This is a complicated and prolonged phase of meiosis which can be
subdivided further into five sub-stages, i.e., leptotene, zygotene, pachytene,
diplotene and diakinesis.
The important features of all these five sub-stages are under-mentioned:
(a) Leptotene:
The diploid nucleus enlarges in volume. The chromosomes appear as long,
thin and single threads which soon begin to coil. Several small, bead-like
granules (chromomeres) appear in each thread-like chromosome (Fig.
310A).
(b) Zygotene: The homologous chromosomes come together, get
themselves arranged side by side, and form pairs or bivalents (Fig. 310B).
This pairing is also called synapsis. The pairing chromosomes soon begin to
shorten and get thickened, but there is no actual fusion.
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(c) Pachytene:
In this stage the chromosomes become shorter, thicker and get splitted into
chromatids linked at the centromeres (Fig. 311). From a pair of each
homologous chromosomes are thus produced four chromatids.
Identification of the homologous chromosomes can be made in pachytene,
which is a long stage of prophase I.
(d) Diplotene:
Centromeres of paired chromosomes move away from each other (Fig. 312).
This movement is because of the development of some repulsive force
between the homologous chromosomes. However, the homologous
chromosomes remain connected at one or more points called chiasmata.
The physical exchange of genetic material takes place at each chiasma
under the process called crossing over. Further coiling and shortening of
chromosomes is also seen in late stage of diplotene which soon changes into
diakinesis.
(e) Diakinesis:
In this last stage of the first meiotic prophase the chromosomes are shortest
and thickest. The nuclear membrane starts disintegrating. The nucleolus
also disintegrates and disappears (Fig. 313). The chromosomes bivalents
move towards the periphery, of the nucleus and remain connected only at
the points of chiasmata. The chromosomes are finally released into the
cytoplasm.
2. Metaphase I:
Two major events of metaphase I include complete disintegration of
nuclear membrane and the formation of spindle (Fig. 314). All the
chromosomes, each along with their two chromatids, move to the
equatorial region of the newly formed spindle.
Differing from the metaphase stage of mitosis, the centromeres of
chromosome pairs in metaphase stage of meiosis I become attached with
the spindle fibres near the equatorial region. The centromeres remain
clearly apart from each other and face the opposite poles while the arms of
the chromosome pairs lie towards the equator.
3. Anaphase I:
There is first a repulsion and then movement of
chromosomes towards the opposite poles of the spindle in anaphase I (Fig. 315A). A
centromere carries either a paternal or a maternal chromosome to one pole but not both
the chromosomes. This actually reduces the chrom
haploid (n), which is the main feature of meiosis of reduction division.
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le the two centromeres of the homologous
chromosome number from diploid (2n) to
osome
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4. Telophase I:
A nuclear membrane develops around each group of homologous
chromosomes present on the two opposite poles in the form of a compact
group in telophase I (Fig. 315B). The nucleolus reappears. Both the so
formed daughter nuclei contain haploid number (n) of chromosomes, and
each chromosome contains a pair of chromatids.
Both the daughter nuclei may or may not be separated by a plasma
membrane and soon pass on to the next division, i.e., meiosis division II.
Meiosis Division II:
This division includes almost all the phases found in mitosis.
Four different phases which constitute meiosis division II are prophase II, metaphase II,
anaphase II and telophase II, and main events of all these four phases are discussed below:
1. Prophase II:
The chromosomes split into chromatids in both the haploid nuclei and cells
formed after meiosis division I. The splitted chromatids remain connected
only at the centromeres. The chromosomes start coiling and become
shorter and thicker. The nuclear membrane and nucleolus start
disintegrating and some spindle fibres also start appearing.
2. Metaphase II:
The chromosomes get arranged in an equatorial position in the
newlyformed
spindle . Very soon, the chromosome pair separates, of which each
contains its own centromere. This is a very short phase of meiosis
division II.
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3. Anaphase II:
In this phase, the two sister chromosomes of each pair start to move
towards the opposite poles of the spindle . They are being drawn towards
the opposite poles by their centromeres.
4. Telophase II:
Each polar group of chromosomes get enveloped by a nuclear membrane,
and there is the reappearance of nucleolus. Four cells are formed by
cytokinesis, and the nucleus in all these so formed four young cells contain
haploid number (n) of chromosomes. In this way, four haploid cells are
resulted from a single diploid cell in the process of meiosis.
Significance of Meiosis:
In the process of sexual reproduction the male and female gametes fuse to form a zygote
which gives rise to the new off-springs. If the gametes contained the same number of
chromosomes as that of their parents, the off-springs would have an ever-increasing
chromosomes number in all future generations to come, and this might have resulted
always in the formation of new and peculiar types of off-springs, much different from
that of their parents. To solve this problem, nature has provided the phenomenon of
meiosis to all sexually reproducing plants and animals. Meiosis maintains the haploid
nature of gametes.
DNA, the sole hereditary material, is distributed equally among the gametes by the
process of meiosis. Meiosis forms spores (n) from the spore mother cells (2n) and thus
maintains the alternation of generations in organisms.
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Lecture:5 Probability and Chi-square
The measurement of relative chance of occurrence of an event from among
a set of alternatives can be defined as probability. When in an experiment
there are chances of occurrence of many events then the question of
probability arises. Such as, if a coin is tossed then either ‗head‘ or ‗tail‘ will
happen; if a dice is thrown then there are possibility of getting 1 or 2 or 3 …
or 6.
Probability is a number expressed in a quantitative scale. When one event
will not occur at all then the probability of that event is 0, and if there is any
event which will happen positively without fail then the probability of that
event is 1. But in biological science, mostly we find the probability of any
event lies between impossibility to certainty i.e., the value
ranges from 0 to 1.
Mathematically probability can be explained in the following way:
If an event can happen in ‗a‘ number of ways, and fails to happen in ‗b‘ number of ways,
then the probability of its happening ‗p‘ is written as.
So, if the probability of happening any event is 0.7, then the probability of
not happening of that event is 0.3.
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Chi-square:
In biological experiments and field surveys, apart from quantitative data we get the
qualitative data which is genetical character such as tall and short, colour of flower, seed
coat character which do not have any numerical values. But the number of flowers or
seeds having a particular colour falls under any category can be counted numerically.
This type of observation requires the calculation of the expected number of individuals
under any category. Thus it becomes necessary to know whether there is any deviation
in between the observed and expected frequencies. The measurement of this deviation is
done with the help of a particular test which is called Chi-square (X2) test.
The formula for Chi-square test is: X2 = Σ(O-E)2/E
Where O = Observed value, E = Expected value.
Steps to be followed to test the Goodness of Fit:
1. Deviation between the observed and the expected results should be
calculated.
2. Comparing the minimum deviation the null hypothesis should be
selected for X2-test.
3. X2-value should be determined.
4. Comparing the calculated X2-value with tabulated X2-value the
conclusion has to be made.
Example 1→ (3:1):
Following number of seeds with the associated character is observed. Test the goodness
of fit and comment.
Yellow seed: 428
Green seed: 152
Step I: Calculation of expected
Step II: Determination
26
value for each ratio:
of expected segregation ratio:
According to table, the deviation is minimum in 3:1 ratio, so the observed sample should
fit the 3:1 ratio.
Step-III Calculation of
Since, in this experiment the samples are of two classes, so degree of
freedom = 2-1 = 1.
Step IV: Conclusion:
The calculated Chi-square (X
0.05 probability level with 1 degree of freedom is 3.841.
The calculated value is much less than the table value, so the deviation is
insignificant, the observed deviation is due to chance factor only. It lies in
the probability range 50-70%.
The observed result is in good fit with Mendelian Monohybrid ratio, i.e.,
3:1.
27
X2-Value:
X2) value is 0.451. The tabulated chi
ability ) chi-square at
28
Step V: Comment:
Comment:.
So the assumed genotypes of parents are:
Lecture:6 Dominance ***relationships and gene interaction
Introduction to Gene Interaction:
Mendelian genetics does not explain all kinds of inheritance for which the phenotypic
ratios in some cases are different from Mendelian ratios (3:1 for monohybrid, 9:3:3:1 for
di-hybrid in F2). This is because sometimes a particular allele may be partially or equally
dominant to the other or due to existence of more than two alleles or due to lethal
alleles. These kinds of genetic interactions between the alleles of a single gene are
referred to as allelic or intra- allelic interactions.
Non-allelic or inter-allelic interactions also occur where the development of single
character is due to two or more genes affecting the expression of each other in various
ways.
Thus, the expression of gene is not independent of each other and dependent on the
presence or absence of other gene or genes; These kinds of deviations from Mendelian
one gene-one trait concept is known as Factor Hypothesis or Interaction of Genes .
29
Allelic Gene Interactions: A dominant aeeeee may not compeeteey
suppress other aeeeee, hence a heterozygote is phenotypicaeey
distinguishabee (intermediate phenotype) from either homozygotes.
Lethal Factor (2:1): The genes which cause the death of the individual
carrying it, is called lethal factor. Recessive lethals are expressed only when
they are in homozygous state and the heterozygotes remain unaffected.
There are genes that have a dominant phenotypic effect but are recessive
lethal, e.g., gene for yellow coat colour in mice.
Multiple Alleles: A gene for particular character may have more than two
allelomorphs or alleles occupying same locus of the chromosome (only two
of them present in a diploid organism). These allelomorphs make a series of
multiple alleles. Human ABO blood group system furnishes best example.
Complementary Factor (9:7): Certain characters are produced by the
interaction between two or more genes occupying different loci inherited
from different parents. These genes are complementary to one another, i.e.,
if present alone they remain unexpressed, only when they are brought
together through suitable crossing will express.
Epistasis: When a gene or gene pair masks or prevents the expression of
other non-allelic gene, called epistasis. The gene which produces the effect
called epistatic gene and the gene whose expression is suppressed called
hypostatic gene.
30
Inhibitory Factor: Inhibitory factor is such a gene which itself has no
phenotypic effect but inhibits the expression of another non-allelic gene; in
rice, purple leaf colour is due to gene P, and p causing green colour.
Another non-allelic dominant gene I inhibits the expression of P but is
ineffective in recessive form (ii). Thus the factor I has no visible effect of its
own but inhibits the colour expression of P.
Polymorphic Gene (9:6:1):
Here two non-allelilc genes controlling a character produce identical
phenotype when they are alone, but when both the genes are present
together their phenotypes effect is enhanced due to cumulative effect. In
barley, two genes A and B affect the length of awns.
Duplicate Gene (15:1):
Sometimes a character is controlled by two non-allelic genes whose
dominant alleles produce the same phenotype whether they are alone or
together. In Shepherd‘s purse (Capsella bursa-pastoris), the presence of
either gene A or gene B or both results in triangular capsules; when both
these genes are in recessive forms, the oval capsules produced
Other Kinds of Gene Interactions:
Modifiers:
Genes which modify the phenotypic effect of a major gene called modifying
gene. They reduce or enhance the effect of other gene in quantitative
manner, e.g., genes responsible for dilution of body colour.
31
Suppressors:
Genes which will not allow mutant allele of another gene to express
resulting in wild phenotype called suppressor gene, e.g., Su-s in Drosophila
suppresses the expression of dominant mutant gene star eye(s).
Pleiotropy:
Gene having more than one effect (multiple effects) are called pleiotropic
genes. They have a major effect in addition to secondary effect. In
Drosophila, the genes for bristle, eye and wing significantly influence the
number of facets in bar-eyed individuals.
Atavism: The appearance of offspring‘s which resemble their remote
ancestors called atavism.
Penetrance:
The ability of a gene to be expressed phenotypically to any degree is called
penetrance. Penetrance may be complete, e.g., in pea, expression of R allele
for red flower in homozygous and heterozygous conditions. It may be
incomplete, e.g., dominant gene P for Polydactyly in human, sometimes
does not show polydactylous condition in heterozygous state.
Expressivity:
A trait though penetrant, may be quite variable in its phenotypic
expression, e.g., in human polydactylous condition may be penetrant in left
hand but not in the right.
32
Lecture:7 Epistatic gene interactions with examples
(complementary, supplementary, duplicate gene interactions).
Epistasis: The pioneer work of Gregor Johann Mendel seemed to imply
that every character was determined by a single factor or determiner or in
other words a pair of genes influenced one trait. Later work by geneticists
led to the idea that a character need not necessarily be due to the action of a
single factor but may also be due to the action of several factors. These
hereditary units or factors are now known as genes.
Gene Interaction: The genes interacting to affect a single trait, if
present on different chromosomes will show independent assortment and
no interference between the effects of different genes. The condition where
one pair of genes reverses or inhibits the effect of another pair of genes by
causing the modification of the normal phenotype is called gene
interaction.
Epistasis Gene Interaction: Type #1
Duplicate Recessive Epistasis [9 : 7 Ratio]:
When recessive alleles at either of the two loci can mask the expression of
dominant alleles at the two loci, it is called duplicate recessive epistasis.
This is also known as complementary epistasis. The best example of
duplicate recessive epistasis if found for flower colour in sweet pea.
The purple colour of flower in sweet pea is governed by two dominant genes
say A and B. When these genes are in separate individuals (AAbb or aaBB)
or recessive (aabb) they produce white flower.
A cross between purple flower (AABB) and white flower (aabb) strains
produced purple colour in F1. Inter-mating of F1 plants produced purple
33
and white flower plants in 9 : 7 ratio in F2 generation (Fig. 8.5). This can be
explained as follows.
Here recessive allele a isepistatic to B/b alleles and mask the expression of
these alleles. Another recessive allele b is epistatic to A/a alleles and mask
their expression.
Hence in F2, plants with A-B-(9/16) genotypes will have purple flowers, and
plants with aaB-(3/16), A-bb-(3/16) and aabb (1/16) genotypes produce
white flowers. Thus only two phenotypic classes, viz., purple and white are
produced and the normal dihybrid segregation ratio 9 : 3 : 3 : 1 is changed
to 9 : 7 ratio in F2 generation.
34
Epistasis Gene Interaction: Type # 2.
Duplicate Dominant Epistasis [15 : 1 Ratio]:
When a dominant allele at either of two loci can mask the expression of
recessive alleles at the two loci, it is known as duplicate dominant epistasis.
This is also called duplicate gene action. A good example of duplicate
dominant epistasis is awn character in rice. Development of awn in rice is
controlled by two dominant duplicate genes (A and B).
Presence of any of these two alleles can produce awn. The awnless
condition develops only when both these genes are in homozygous
recessive state (aabb). A cross between awned and awnless strains
produced awned plants in F1. Inter-mating of F1 plants produced awned and
awnless plants in 15 : 1 ratio in F2 generation (Fig. 8.6). This can be
explained as follows.
The allele A is epistatic to B/b alleles and all plants having allele A will
develop awn. Another dominant allele B is epistatic to alleles A/a.
Individuals with this allele also will develop awn character. Hence in F2,
plants with A-B-(9/16), A-bb-(3/16) and aaB-(3/16) genotypes will develop
awn.
The awnless condition will develop only in double recessive (aabb)
genotype (1/16). In this way only two classes of plants are developed and
the normal dihybrid segregation ratio 9 : 3 : 3 : 1 is modified to 15 : 1 ratio
in F2. Similar gene action is found for nodulation in peanut and nonfloating
character in rice.
35
Form # 3. Duplicate Factor (15:1):
The two pairs of factors which have identical effect are known as duplicate factors.
Or
Characters showing duplicate factor or gene action are governed by two dominant
factors. These dominant factors produce the same phenotype whether they are alone or
in pairs.
(Awned and awnless characters in rice plants)
36
Genotypes and phenotypes of F2 generation:
37
Form # 4. Complementary Factor: The 9:7 Ratio:
In sweet pea (Lathyrus odoratus) two varieties of white flowering plants were seen. Each
variety bred true and produced white flowers in successive generations. According to
Bateson & Punnett, when two such white varieties of sweet pea were crossed, the
offspring were found to have purple coloured flowers in F1 but in F2 generation 9 were
purple and 7 white. This is again a modification of 9:3:3:1 ratio, where only one
character i.e., flower colour is involved.
It is clear in the above example that for the production of the purple flower colour both
complementary (C and P) genes are necessary to remain present. In the absence of
either genes (C or P) the flowers are white.
Thus, it is clear that genes C and P interact and presence of both is essential for the
purple colour in the flower. These types of genes in which one gene complements the
action of the other gene, constitute complementary genes or factors.
(Complementation between two non-allelic genes (C and P) are essential for production
of a particular or special phenotype i.e., complementary factor)
38
Genotypes and Phenotypes of F2 and breeding behaviour expected in F2 of
complementary factors:
Form # 5. Supplementary Factors (9:3:4):
Here only one factor is sufficient to produce a phenotypic expression but
addition of another factor causes the change in expression.
Supplementary genes are two independent dominant genes interacting to
produce a phenotypic expression different from that produced by either
gene alone.
In supplementary gene action, the dominant allele of one gene is essential
for the development of the concerned phenotype, while the other gene
modifies the expression
of the first gene. For example, the development of grain colour in maize is
governed by 2 dominant genes ‗R‘ and ‗P‘.
The dominant allele ‗R‘ is essential for red colour production; homozygous
state of the recessive allele ‗r‘ (rr) checks the production of red colour. The
gene ‗P‘ is unable to produce any colour on its own but it modifies the
39
colour produced by the gene ‗R‘ from red to purple. The recessive allele ‗p‘
has no effect on grain colour.
Showing genotypes and phenotypes of F2 behaviour of supplementary
factors in grain colour of maize:
40
Lecture:8 Epistatic gene interactions with examples (masking,
inhibitory, polymeric and additive gene interactions)
Form # 1. Inhibitory Factor (13:3):
In this type of modification two pairs of genes are involved and one of the
nonallelic
dominant gene inhibits the expression of the other non-allelic dominant
gene.
A gene which inhibits the expression of an active allele situated at different locus
is called as inhibitory gene. Thus, in inhibitory gene action one dominant
inhibitory gene prevents the expression of another dominant gene. Example of
inhibitory gene is pigmentation in rice plants. In rice plants the presence of gene
‗P‘ is responsible for deep purple leaves.
But if a gene ‗I‘ is present then the expression of purple leaf colour is inhibited
and the leaf becomes normal green. Thus in a cross, between green (IIpp) and
purple (iiPP), all the offsprings in F1 are green but in F2 progeny, green and
purple are obtained in ratio of 13:3. This modifies the typical 9:3:3:1 F 2 ratio in to
a 13:3 ratio.
41
It is now well understood that pigmentation in rice plant is governed by two
non-allelic genes. ‗P‘ gene produces purple colour while its recessive ‗p‘
green colours. Another dominant gene ‗I‘ which produces green colour in
rice plants, inhibits or prevents the colour production by ‗P‘ when both ‗I‘
and ‗P‘ are present together.
The recessive allels ‗I‘ is ineffective and does not affect the colour
production in any way in rice plants. Other examples of inhibitory gene
action are the development of feather colour in fowls, seed colour in maize
etc. Bateson and Punnett for the first time made the discovery of Inhibitory
gene in fowls.
42
Genotypes and phenotypes of F2 generation:
Form # 2. Cumulative or Additive Factors (1:4:6:4:1):
These are quantitative in nature. In this different degrees of phenotypes are
brought about according to the number of doses of genes or factors present.
These differ from duplicate factors in respect that the phenotypic expression
differs quantitatively in degrees according to the number of doses of the factors
present in the offspring. The effect of these factors are cummulative or additive
representing the effect of several factors acting together. Each gene contributes
certain quantity of colour or weight or height or fertility.
The inheritance of a character like skin colour of Mulattoes appeared baffling or
frustrating and even incompatible with gene theory. Davenport (1913) was the
first man to explain the inheritance of skin colour in Mulattoes by the multiple
factor hypothesis.
43
The human skin colour is due to presence of melanin pigments. He assumed
that Negros of Africa differ from whites in 2 pairs of pigment producing genes
showing no dominance. Negroes have four colour genes (P1P1P2P2) and whites
have no colour genes (p1p1p2p2). The F1 generation of Mulattoes (P1p1P2p2) has 2
colour genes. Their colour is intermediate between the two parents.
The offsprings of Mulattoes with 2 colour genes will be:
6/16 Mulattoes with 2 colour genes (Intermediate between the Negro & white
parent)
4/16 Dark mulattoes with 3 colour genes (Intermediate between the original
Negro and F1 mulattoes parent) 4/16 Light mulattoes with 1 colour gene
1/16 Black Negro with 4 colour genes resembling original Negro parent.
1/16 White with no colour gene ; gene resembling the original white parent.
44
Form # 4. Polymerism (9:6:1):
When two genes govern any character separately, their effect is equal but when both the
genes are present together, there phenotypic effect is increased or raised as if the effects
of the two genes were additive or cummulative. It is notable in this case that both the
genes show complete dominance. ―Additive or cummulative effect of genes present at
different loci is called polymerism.‖
In wheat three types of pericarp colour is found:
(i) Deep red (ii) Light red and (iii) Colourless. When a cross is made between
plants having deep red (AABB) and colourless (aabb) pericarp, the F1 (AaBb) has
deep red pericarp due to the additive effect of both the genes A and B.
In F2 generation, on an average, 9/16 plants will have dominant alleles of both
the genes A and B; as a result these plants will produce deep red per-carp. 6/16
plants will have light red pericarp since they have either A or B, but not both.
45
The rest 1/16 plant will be homozygous recessive for both the genes and will be
therefore, colourless.
Genotypes and phenotypes of the F2 generation:
Thus, polymerism interaction modifies the typical 9:3:3:1 ratio in to 9:6:1
ratio. Other examples of polymerism interaction are also known, e.g., fruit
shape in summer squash etc.
46
Lecture:9 Pleiotropism, pseudoalleles, Multiple alleles and
Blood group genetics
Meaning of Multiple Alleles:
The word allele is a general term to denote the alternative forms of a gene
or contrasting gene pair that denote the alternative form of a gene is called
allele. These alleles were previously considered by Bateson as hypothetical
partner in Mendelian segregation.
In Mendelian inheritance a given locus of chromosome was occupied by 2
kinds of genes, i.e., a normal gene (for round seed shape) and other its
mutant recessive gene (wrinkled seed shape). But it may be possible that
normal gene may show still many mutations in pea besides the one for
wrinkledness. Here the locus will be occupied by normal allele and its two
or more mutant genes.
47
Thus, three or more kinds of genes occupying the same locus in individual
chromosome are referred to as multiple alleles. In short many alleles of a
single gene are called multiple alleles. The concept of multiple alleles is
described under the term ―multiple allelism‖.
Dawson and Whitehouse in England proposed the term panallele for all the
gene mutations at a given locus in a chromosome. These differ from the
multiple factor in one respect that multiple factors occupy different loci
while alleles occupy same locus. “Three or more kinds of gene which
occupy the same locus are referred to as multiple
alleles.” Altenburg
Characteristics of Multiple Alleles:
1.The study of multiple alleles may be done in population.
2. Multiple alleles are situated on homologous chromosomes at the same locus.
3. There is no crossing over between the members of multiple alleles. Crossing
over takes place between two different genes only (inter-generic recombination)
and does not occur within a gene (intragenic recombination).
4. Multiple alleles influence one or the same character only.
5. Multiple alleles never show complementation with each other. By
complementation test the allelic and non-allelic genes may be differentiated well.
The production of wild type phenotype in a trans-heterozygote for 2 mutant
alleles is known as complementation test.
6. The wild type (normal) allele is nearly always dominant while the other mutant
alleles in the series may show dominance or there may be an intermediate
phenotypic effect.
48
7. When any two of the multiple alleles are crossed, the phenotype is of a mutant
type and not the wild type.
8. Further, F2 generations from such crosses show typical monohybrid ratio for
the concerned character
Examples of Multiple Alleles:
1. Wings of Drosophiea:
2. Coat Coeour in Rabbit
3. Seef-Sterieity in .eants:
5. The ‘Rhesus’ Beood Group in Man:
.
4. Blood Groups in Man:
Several genes in man produce multiple allelic series which affect an
interesting and important physiological characteristic of the human red
blood cells. The red blood cells have special antigens properties by which
they respond to certain specific components (antibodies) of the blood
serum. The antigen-antibody relationship is one of the great specificity like
that between lock and key. Each antigen and its associated antibody has a
peculiear chemical configuration. Landsteiner discovered in 1900 that
when the red cells of one person are placed in the blood serum of another
person, the cells become clumped or agglutinated.
If blood transfusions were made between persons of two such incompatible
blood groups, the transfused cells were likely to clump and shut out the
capillaries in the recipient, some times resulting in death.
49
However, such reactions occurred only when the cells of certain individuals
were placed in serum from certain other persons. It was found that all
persons could be classified in to four groups with regard to the antigen
property of the blood cells.
Large number of persons have been classified in to these four groups by
means of the agglutination test and the distribution of blood groups in the
offspring of parents of known blood groups has been studied. The evidence
shows that these blood properties are determined by a series of three allelic
genes IA, IB and i, as follows:
IA is a gene for the production of the anti-gin A. IB for antigen B, and i for
neither antigen.
The existence of these alleles in man and the case with which the blood
groups can be identified have obvious practical applications in blood
transfusion, cases of disputed percentage and description of human
populations.
The alleles of these genes which affect a variety of biochemical properties of
the blood, act in such a way that in the heterozygous compound IAIB, each
allele exhibits its own characteristics and specific effect. The cells of the
heterozygote contain both antigens A and B. On the other hand, IA and
IB both show complete dominance over i, which lacks both antigens.
50
Definition of pseudoallele. : any of two or more closely linked genes
that act usually as if a single member of an allelic pair but occasionally
undergo crossing-over and recombination.
Pleiotropism:
The opposite of polygene effect is known as pleiotropism i.e., a single gene
influence or govern many characters. For example, gene for vestigial wing
influence the nature of halters (modified balancers of Drosophila). The
halters are not normal but reduced in flies with vestigial wings. The
vestigial gene also affects position of dorsal bristles which instead of being
horizontal turn out to be vertical.
51
This gene also affects the shape of spermatheca i.e., the shape of
spermatheca is changed ; the number of egg strings in the ovaries is
decreased compared to normal when the vestigial larvae are well fed but
relatively increased when they are poorly fed ; length of life and fruitfulness
or fertility are lowered, and there are still other differences.
LECTURE: 10 Sex determination
1917 C.E. Allen Discovered sex determination in plants.
1922 C.B. Bridges Put forth the genic balance theory of sex determination.
A sex-determination system is a biological system that determines the
development of sexual characteristics in an organism. Most organisms that
create their offspring using sexual reproduction have two sexes. Occasionally,
there are hermaphrodites in place of one or both sexes.
Modern Theories of Sex Determination:
The Modern Theories Given For Sex Determination Are As Follows:
(1) Chromosomal theory or Theory of Heterogamy
2) Genic balance theory
(3) Hormonal theory
(4) Theory of environmental factors.
52
1) Chromosomal Theory or Theory of Heterogamy:
The complete account of chromosomal sex determination was at first
worked out by Stevens (1905). This view was later supported by other
scientists such as Wilson, Bridge, Goldschmidt and Whitings.
In majority of sexually reproducing animals two types of chromosomes are
found:
(i) Autosomes:
They are found in all cells. The genes present on autosomes are responsible
for determining the somatic characters but sometime influence the sex of
the organism. The two members of each homologous pair are similar in
shape and size (homomorphic).
(ii) Sex Chromosomes or Allosomes:
They carry genes for sex. A pair of them determines the sex. They are variously
named as X and V chromosomes (Man and Drosophila), Z and W chromosomes
(Birds and Moth), odd chromosomes, idiosoines, heterosomes or allosomes. The
genes which determine the sex are being located on these chromosomes. The two
members of this pair arc often dissimilar in male and are represented as X and Y
chromosomes or as Z and W chromosomes.
a)XX Female and XY Male Types:
This type of sex mechanism is found in Drosophila (fruitfly) and majority of
mammals including man. In this type the female is homogametic (XX) and
male is heterogametic (XY) consisting of two dissimilar chromosomes X
and Y. The females produce ova all of one type having X chromosome.
53
Males produce two types of sperms: -50% with X-chromosome and
remaining 50% with Y-chromosome. Thus, the sex chromosomes in female
are homomorphic and those of male are heteromorphic (Fig. 5.13).
(b) ZW Female and ZZ Male Type:
In butterflies and birds, the female is heterogametic having dissimilar Z
and W chromosomes whereas the male is homogametic having similar ZZ
chromosomes (It is a convention to designate female as ZW instead of XY
and male as ZZ instead of XX). The situation here is just reverse to first
type.
(c) XX Female and XO Male Type:
Mc Clung and Wilson (1903) described this type of sex mechanism in
insects especially in grasshopper. In male there is no mate for X
chromosome, hence the name XO is given, there is no Y chromosome. They
54
produce sperm of two types, 50% with X chromosome and 50% without X.
In females there are two similar or homomorphic sex chromosomes XX.
Homogametic and Heterogametic sexes
Heterogametic sex (digametic sex) refers to the sex of a species in which
the sex chromosomes are not the same. ... However, in birds, and some
reptiles, males have two Z sex chromosomes and so are
the homogametic sex, while females, with one Z and one W chromosome,
are the heterogametic sex.
a) Heterogametic male: In this mechanism, the female sex has two ‗X‘
chromosomes, while the male sex has only a single ‗X‘ chromosome. As the
male lacks a ‗X‘ chromosome during meiosis, 50% of lthe gametes carry ‗X‘
chromosome, while the rest do not have the ‗X‘ chromosome. Such a
mechanism, which produc es two different types of gametes in terms of sex
chromosome is called heterogametic sex. The female sex here is called
homogametic sex because it produces similar type of gametes. The
heterogametic male may be of the following two types.
i) XX – XO
ii) XX – XY
i) XX - XO: In certain insects belonging to orders Hemiptera (true bugs),
Orthoptera (grass hoppers) and Dictyoptera (cockroaches), female has two ‗X‘
chromosomes (XX) and are, thus homogametic, while male has only single ‗X‘
chromosome (XO). This mechanism was found by C.E. McClung in 1902. The
presence of an unpaired X chromosome determines the masculine sex. The
male being heterogametic sex produces two types of sperms, half with X
chromosome and half without X chromosome in equal proportions. The sex of
the offspring depends upon the sperm that fertilizes the egg, each of which
carries a single X chromosome. Thus fertilization between male and female
gametes always produced zygotes with one ‗X‘ Chromosome from the female,
but only 50% of the z ygotes have an additional X Chromosome from the male.
In this way, ‗XO‘ and ‗XX‘ types would be formed in equal proportions, the
former being males and the latter being females.
55
ii) XX-XY type:
In man, other mammals, plants and many insects like Drosophila, etc., the female
has homogametic XX type while male has X and Y chromosomes. The female
produces only one type of gametes while male produces two types of gametes ‗X‘
and ‗Y‘. The sex of the embryo depends on the type of sperm or male gamete (X or
Y type). If the female gamete is fertilized by ‗X‘ sperm the embryo will be carrying
female sex while if it is fertilized by ‗Y‘ sperm the embryo will be male
b) Heterogametic female: In this mechanism the male possess two
homomorphic sex chromosomes and are thus homogametic, while the female
possesses either a single ‗X‘ chromosome or one ‗X‘ and one ‗Y‘ chromosome
and are hence heterogametic. To avoid confusion with earlier types, instead of
X and Y, the alphabets Z and W are used. This mechanism of sex
determination is also known as ―Abraxas mechanism of sex determination‖
(Kuspira and Walker, 1973)
The heterogametic females may be of following two types
i) ZO – ZZ
ii) ZW – ZZ
56
i) ZO – ZZ The female possesses single Z chromosome in moth, butterflies
and domestic chickens. Female produces two types of eggs one with ‗Z‘
chromosomes other without ‗Z‘. However, the male produces only one type of
sperm carrying ‗Z‘ only. The sex is determined on the basis of egg type being
fertilized by the sperm if it contains Z the embryo will be male if not the
embryo will be female.
ii) ZW – ZZ
It is common in insects, vertebrates like fish reptiles, birds, etc. Females are
heterogametic with ZW and males are homogametic with ZZ. Female produces
two types of eggs, i.e., 50% with ‗Z‘ or 50% with ‗W‘ while male produces only
one type of sperms, i.e., with ‗Z‘. The sex of the offspring depends on the type
of egg it was fertilized.
57
Lecture:11 Sex limited, sex influenced and sex linked traits
Sex-limited :
genes are genes that are present in both sexes of sexually reproducing species
but are expressed in only one sex and remain 'turned off' in the other. In
other
words, sex-limited genes cause the two sexes to show different traits or
phenotypes, despite having the same genotype.
Sex-influenced: traits are autosomal traits that areinfluenced by sex. If a
male has one recessive allele, he will show that trait, but it will take two
recessive for the female to show that same trait. One such gene is baldness. A
lot of sex-limtied traits can determine parental carriers by using a pedigree.
Examples of Sex-linked Traits:
Red-green colorblindness
Male Pattern Baldness
Hemophilia
Duchenne Muscular Dystrophy
58
Lecturee: 12 Sex linkage
1915 T.H. Morgan Correlated genetic studies with cytological studies.
He put forth the theory of linkage and studied sex linked
inheritance in Drosophiea meeanogaster.
Sex linkage is the phenotypic expression of an allele that is dependent on the
gender of the individual and is directly tied to the sex chromosomes. In such
cases there is a homogametic sex and a heterogametic sex.
Sex linked traits are determined ny genes found on the sex chromosomes (X
or Y chromosome). Gene found on the sex chromosomes do not always show
a normal pattern of inheritance.
Y-Linked dominant conditions
Genes found on the Y-chromosomes are only expressed in males.
X-linked recessive conditions
Some inherited conditions are much more common in males (e.g. red-green
colour nlindness and haemophilia where the nlood can’t clot). These
conditions are due to recessive allele found on the X chromosome. In
females noth X chromosomes must carry the recessive allele nefore the
condition is expressed. Because males only have one X chromosome, they
always express the characteristic if they have it on their one X chromosome
(it effectively has nothing to ne recessive to).
X-linked dominant conditions
Dominant genes on the X chromosome are expressed in both sexes.
However, in males the dominant trait is always inherited from their mother
(affected males will always have affected mothers)
Hemophilia A and hemophilia B are inherited in an X-linked recessive
pattern. The genes associated with these conditions are located on
the X chromosome, which is one of the two sex chromosomes. In males
(who have only one X chromosome), one altered copy of the gene in each
cell is sufficient to cause the condition.
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Lecture:13 Linkage and its estimation***
1906 W. Bateson and R.C. Punnet Discovered genetic linkage
in sweet pea.
1911 A.H. Sturtevant Constructed the first linkage map in Drosophila.
Chromosome Theory of Linkage
Morgan, along with Castle formulated the chromosome theory of linkage. It
has the following postulates;
1. Genes are found arranged in a linear manner in the chromosomes.
2. Genes which exhibit linkage are located on the same chromosome.
3. Genes generally tend to stay in parental combination, except in cases of
crossing over.
4. The distance between linked genes in a chromosome determines the
strength of linkage. Genes located close to each other show stronger linkage
than that are located far from each other, since the former are less likely to
enter into crossing over.
Detection of Linkage
Compare the number of individuals observed in each class with those
expected on the basis of independent assortment and then to test the
deviation between these two values by chi-square test.
Linkage Group: The number of linkage groups will be equal to the
haploid number of chromosomes which the species possess. Thus maize
has 10 pairs chromosomes has 10 linkage groups.
Gene Linkage
Today scientists understand that independent assortment occurs when
the genes affecting the phenotypes are found on different chromosomes.
When genes occur on the same chromosome, they are inherited as a
single unit. Genes inherited in this way are said to be linked
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Types of linkage
Linkage is classified on the basis of following three criteria.
I. Based on crossing over
(i) Complete linkage
Linkage in which crossing over does not occur is known as complete linkage
or absolute linkage. In complete linkage test cross progenies posses only
parental types.
(ii) Incomplete linkage
In some cases, frequency of crossing over occurs between linked genes, it is
known as incomplete linkage. In incomplete linkage, the test cross yields
some recombinants besides parental combinations.
II. Based on status of genes involved
(i) Coupling linkage
It refers to linkage either between dominant genes or between recessive
genes.
(ii) Repulsion linkage
It refers to linkage of some dominant genes with some recessive genes.
III. Based on chromosomes involved
(i) Autosomal linkage
It refers to linkage of such genes, which are located in other than sex
chromosomes.
(ii) X-chromosomal linkage
It refers to the linkage of genes, which are located in sex chromosomes.
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Lecture:14 Crossing over : introduction & mechanisms
Meaning of Crossing Over:
Crossing over refers to the interchange of parts between non-sister chromatids of
homologus chromosomes during meiotic prophase (pachytene). In other words,
crossing over results from exchange of genetic material between non-sister
chromatids involving breakage and reunion at precise point. The term crossing
over was first used by Morgan and Cattell in 1912.
Crossing over may be defined as ―interchange of chromosomal segments
between non-sister chromatids of a homologous chromosome pair‖. The
term crossing over was first used by Morgan and Cattell in 1912.
The exchange of precisely homologous segments between non-sister
chromatids of homologous chromosomes is called crossing over.
The main features of crossing over are given below
i. Crossing over takes place at four strand stage during pachytene stage of
Miosis I.
ii. Crossing over occurs between non-sister chromatids of the homologous
chromosomes.
iii. Crossing over produces new combination of genes between linked genes.
iv. The value of crossing over or recombination may vary from 0-50%.
, the frequency of crossing over (%) can be calculated using the formula;
No. of recombinant progeny from a test cross
Frequency of crossing over(%) = ---------------------------------------------------------------- x 100
Total number of progeny
Mechanism of Crossing Over:
There are two important theories viz:
1. Copy choice theory and
2. Breakage and reunion theory to explain the mechanism of crossing over.
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i. Copy Choice Theory:
This theory was proposed by Belling. This theory states that the entire
recombinant section or part arises from the newly synthesised section.
The non-sister chromatids when come in close contact they copy some
section of each other resulting in recombination. According to this theory,
physical exchange of preformed chromatids does not take place.
The non-sister chromatids when come together during pairing, copy part of
each other. Thus, recombinant chromosome or chromatids have some
alleles of one chromatids and some of other. The information may be
copied by one strand or both the strands. When only one strand copies,
non-reciprocal recombinant is produced
.
If copy process involves both strands of chromosomes, reciprocal
recombinants are produced. Assume, there are two chromosomes,
viz., AB and ab. When their chromatids come in close contact they
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copy each other and result in Ab and aB re-combinations besides
parental combinations (Fig. 9.1).
This theory has two objections:
1. According to this theory breakage and reunion does not occur, while it
has been observed cytological.
2. Generally crossing over takes place after DNA replication but here it
takes place at the same time.
ii. Breakage and Reunion Theory:
This theory states that crossing over takes place due to breakage and
reunion of non-sister chromatids. The two segments of parental
chromosomes which are present in recombinants arise from physical
breaks in the parental chromosomes with subsequent exchange of broken
segments (Fig. 9.2).
The breakage results due to mechanical strains that result from the
separation of paired homologous chromosomes and chromatids in each
chromosome during pachytene stage. The broken ends of non-sister
chromatids unite to produce chiasmata resulting in crossing over.
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Types of Crossing Over: Depending upon the number of chiasmata invoeved,
crossing over may be of three types, viz., singee, doubee and muetipee as described beeow:
i. Single Crossing Over:
It refers to formation of a single chiasma between non-sister chromatids of
homologous chromosomes. Such cross over involves only two chromatids
out of four.
ii. Double Crossing Over:
It refers to formation of two chiasmata between non-sister chromatids of
homologous chromosomes. Double crossovers may involve either two
strands or three or all the four strands. The ratio of recombinants and
parental types under these three situations are observed as 2:2:3:1 and 4 :
0, respectively.
iii. Multiple Crossing Over:
Presence of more than two crossovers between non-sister chromatids of
homologous chromosomes is referred to as multiple crossing over.
Frequency of such type of crossing over is extremely low.
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Factors affecting crossing over:
1. Distance between the genes:
2. sex:
3. Age of female:
4. Temperature: 5. Nutrition 6. Chemicals:
7. Radiations: 8. Plasmagenes:
9. Genotype: 11.Distance from centromere:
Lecture: 15 Chromosome mapping ( Linkage map / Cross over map /
Genetic map)
The chromosome map may be defined as a line, on which the genes
are represented by points, separated by distances proportional to the
amount of crossing over.
The chromosome maps are also referred to as cross over maps since
they are sketched by the amount of crossing over.
The percentage of crossing over is directly proportional to the distance
of the alleles showing crossing over in the chromosome.
The chromosomes maps are the graphic representation of the genes in
a chromosome.
The percentage of crossing over is calculated by test crosses. In
mapping the genes, a unit of distance is used and it is called as map
unit or Morgan unit.
The first chromosome map was made in 1911 by Sturtevant and soon
after additional maps were made by Bridges and others.
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Chromosome mapping is based on two under mentioned genetic principles.
They are –
1. That the genes are arranged in a linear order in the chromosome.
2. That the frequency of crossing over between two genes is directly
proportional to the distance between them in the chromosome. Since the
frequency of crossing over is used in preparing chromosome maps, the
latter are also called cross over maps.
Chromosome map unit:
A frequency of one per cent crossing over between two genes is known as
one unit of map distance between these genes and it is termed a Morgan
after the name of T. H. Morgan.
How to prepare chromosome maps:
Certain examples are quoted here to explain the technique of preparing a
chromosome map. Suppose the five genes A, B, C, D and E are located in a
single chromosome. If the crossing over percentage between A and B is 10
Morgan‘s, these genes are plotted 10 arbitrary units apart in a linear scale
(Fig. 37.12 A).
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If the crossing over percentage between B and C is three, the crossing over
percentage between A and C will determine the position of C, since it is
three units from B towards A or away from A. It is assumed that A-C cross
over rate is 13 per cent, and therefore, C will be plotted 3 Morgan‘s on the
right side of B (Fig. 37. 12 B).
As per above mentioned examples, the location of the genes D and E can be
plotted. Let A- D cross over rate be 5 per cent and B-D cross over rate also 5
per cent. D will then be plotted between A and B, i.e., 5 Morgan‘s from each
(Fig. 37. 12 C). If cross over rate between C and E happens to be two per
cent and between B and E 5 per cent. E will be plotted two Morgan‘s on the
right side of C (Fig. 37. 12D).
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Morgan and Sturtevant got recombination frequencies of (i) 18 between the genes
B for black body and for vestigial wings, (ii) 9 between the genes b for black body
and cn cinnabar eye and (iii) 9.5 between the genes cn for cinnabar eye and vg for
vestigial wings. If the gene b is plotted at one end of the chromosome, the gene vg
will be 18 Morgan‘s away from it (Fig. 37. 13 (a). The gene cn being 9 Morgan‘s
from b and 9.5 Morgan‘s from vg will be plotted approximately in the middle
between the genes b and vg. Thus, the sequence of genes on the chromosome is b,
cn and vg.
The recombination frequency of 9.5 was obtained between cn and vg. This
revealed the sequence to be b – cn – vg with a total distance of 9 + 9.5 = 18.5 map
units which is close to the observed 18 map units for b — vg. If it were cn – b – vg,
c – vg, distance should be 9 + 18 = 27 map units apart. Using this method the
relative distances and position of hundreds of mutant genes of Drosophila have
been mapped.
All these mutants cluster together to form four groups of linked genes
called linkage groups. Drosophila possesses four types of chromosomes,
i.e., I, II, III and IV. Each linkage group remains associated with a
particular chromosome. No gene has been identified on the Y chromosome.
Chromosome maps were first prepared for Drosophila, maize and
Neurospora. Now the linkage maps have also been made for certain other
organisms.
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By a somewhat different technique the chromosome maps of certain viruses
and for the circular DNA of some bacteria have also been prepared.
A map of chromosome II of Drosophila is given in Fig. 37.13.
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LECTURE: 16 Structural changes in chromosome
Chromosomes are the vehicle of hereditary material or genes. Any
alteration, addition or deletion of chromosomal part leads to alteration of
number, position or sequence of genes in the chromosome.
Such change of structure is referred to as chromosomal aberrations or
chromosomal mutations.
Chromosomal aberrations involve two types of changes:
(i) Changes in number of genes in a chromosome
(ii) Changes involving arrangement of genes.
(a) Changes in the number of genes in a chromosome:
(i) Deletion or Deficiency: It is due to loss of a part of a chromosome.
The chromosome becomes shorter due to loss of one or more genes .
ii) Duplication: Duplication of chromosome may take place due to
attachment of some deleted part of another chromosome with it. This
brings addition of some new genes not belonging to it.
(b) Changes in the arrangement of genes in a chromosome:
(i) Inversion: An inversion is produced when there are two breaks in a
chromosome and the intercalary segment reunites in reverse order i.e., the
segment rotate by 180°. For example, if the gene sequence in the original
chromosome is ABCDEFGH, it may change to ADCBEFGH (Fig. 5.21).
If the inverted segment includes the centromere, the inversion is called
pericentric inversion; if it does not include centromere the inversion is
called as paracentric inversion.
(ii) Translocation:
Translocation involves transfer of a segment of a chromosome to a different
part of the same chromosome or to a different chromosome.
case the transfer may take place between non
(Fig. 5.21). The chromosomal aberrations described above are the outcome
of defective meiotic division and result in changed sequence of genes. The
genes in new or changed loc
may even cause death of the individual.
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ric In the later
non-homologous chromosomes
location may alter the phenotypic expression or
ation
72
LECTURE;17 Numerical changes in chromosome
Variation in number of chromosomes is called ploidy.
Numerical changes in chromosomes or variations in chromosome
number (heteroploidy), can be mainly of two types, namely
i) aneuploidy
(ii) euploidy
A set of chromosome present in an organism is called genome. In a
genome, each type of chromosome is represented only once. Most of the
sexually reproducing plant species are diploids i.e., have two set of
chromosomes. Any change in the chromosome number from the diploid
condition is referred to as heteroploidy. The heteroploidy is of two types
namely, aneuploidy and euploidy. The variation in number may involve any
particular chromosome or in entire sets.
1.Euploids.: (Greek word; Eu = true or even; ploidy = unit)
The term euploidy designates a change in chromosome number which
involves entire set of chromosomes. Euploids have one or more complete
genomes, which may be identical with or distinct from each other.
The somatic chromosome number of a euploid individual is exact multiple
of basic chromosome number of that species. The basic chromosome
number refers to the haploid or gametic chromosome number of a diploid
species and in case of polyploidy species, the haploid chromosome
number of parental diploid species; represented by x. Euploidy includes
monoploids, diploids and polyploids.
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a.Monoploids: Monoploids contain a single chromosome set and are
characteristically sterile. In other words monoploids have the basic
chromosome number (x) of a spec ies. Monoploids (x) differ from haploids (n)
which carry half or gametic chromosome number. In a true diploid species,
both monoploid and haploid chromosome number are same (i. e. x=n).
b.Haploid: Haploid is a general term used to designate the individuals or
tissues with a gametic chromosome number i.e. n.
2. Aneuploidy ; Aneuploidy is the presence of an abnormal number of
chromosomes in a cell, for example a human cell having 45 or 47
chromosomes instead of the usual 46. ... Some cancer cells also have
abnormal numbers of chromosomes.
a. Aneuploidy - the abnormal condition were one or more chromosomes
of a normal set of chromosomes are missing or present in more than their
usual number of copies
b.Monoploidy - the loss of an entire set of chromosomes
c.Euploidy - an entire set of chromosomes is duplicated once or several
times
The different conditions of aneuploidy are:
1. Nullisomy - the loss of both pairs of homologous chromosomes;
individuals are called nullisomics and their chromosomal
composition is 2N-2
2. Monosomy - the loss of a single chromosome; individuals are called
monosomics and their chromosomal composition is 2N-1
3. Trisomy - the gain of an extra copy of a chromosome; individuals are
called trisomics and their chromosomal composition is 2N+1
4. Tetrasomic - the gain of an extra pair of homologous chromosomes;
individuals are called tetrasomics and their chromosomal
composition is 2N+2
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LECTURE: 18 Mutation: introduction, characteristics & classification
1902 H. de Vries Coined the term ― mutation ‖.
1927 H.J. Muller Induced mutations in Drosophila melanogaster by X-rays
1928 L.J. Stadler Induced mutations in maize and barley by X-rays.
1939 R.A. Steinberg Induced mutations in Aspergillus sp. with chemicals
Induction of mutations by chemicals in fungus Aspergieeus was
demonstrated by R.A. Steinberg in 1939.
C. Auerbach and J.N. Robson in 1946 used chemicals to induce mutations
in Drosophiea.
The first plant breeding programme using mutations (mutation breeding
was initiated in 1929 in Sweden, Germany and Russia.
In India it was initiated in early 1930s.
Any alteration in the structure of a gene results in a mutation.
Mutation is the sudden heritable change in the phenotype of an organism.
In molecular term, mutation is the permanent and relatively rare change in
the number or sequence of nucleotides which results due to change in in
DNA bases in nuclear or cytoplasmic DNA or due to chromosomal
aberrations.
Terminology
Muton: The smallest unit of gene capable of undergoing mutation and it is
represented by a nucleotide.
Mutator gene: A gene which causes another gene or genes to undergo
spontaneous mutation.
Mutable genes: Genes which show very high rates of mutation as
compared to other genes.
Mutant: An organism or cell showing a mutant phenotype due to mutant
allele of a gene.
Mutagen: A physical or chemical agent which induces mutation.
Hot spots: Highly mutable sites with in a gene.
Characteristic features of mutations:
1. Mutations are mostly recessive and very rarely dominant.
2. Most mutations have harmful effects and very few (less than 0.1 %) are
beneficial.
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3. Mutations may be due to a change in a gene, a group of genes or in entire
chromosome.
4. If gene mutations are not lethal, the mutant individuals may survive.
However, chromosomal mutations are generally lethal and such mutants do
not survive.
5. If mutation occur at both loci simultaneously, the mutants can be identified
in M1 generation. However, if it is restricted to one locus only, (dominant to
recessive) the effect can be seen only in M2 generation.
6. Macro-mutations are visible and can be easily identified, while micro -
mutations can not be seen with naked eye and need special statistical tests
(or statistical analysis).
7. Many of the mutants show sterility.
8. Most mutants are of negative selection value.
9. Mutation for altogether new character generally does not occur.
10. Mutations are random i.e. they can occur in any tissue or cell of an
organism. However some genes show higher mutation rate than others.
11. Mutations can be sectorial. The branches arising from mutated sector show
mutant characters.
12. Mutations are recurrent i.e. the same mutation may occur again and again.
13. Induced mutations commonly show pleiotropy often due mutation in
closely L inked genes.
Classification of mutations:
Mutations can be classified in several ways.
1. Based on direction of mutations :
a) Forward mutation : Any change from wild type allele to mutant allele
b) Backward mutation or reverse mutation: A change from mutant
allele to wild type
2. Based on source / cause of mutations :
a) Spontaneous mutation: Mutation that occur naturally
b) Induced mutation: Mutation that originates in response to mutagenic
treatment
3. Based on tissue of origin :
a) Somatic mutation: A mutation in somatic tissue
b) Germinal mutation: A mutation in germline cells or in reproductive
tissues
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4. Based on effect on survival :
a) Lethal mutation: Mutation which kills the individual that carries it.
(survival0%)
b) Sub-lethal mutation: When mortality is more than 50% of
individuals that carry mutation
c) Sub-vital mutation: When mortality is less than 50% of individual
that carry mutation.
d) Vital mutation: When all the mutant individuals survive (survival-
100%)
5. Based on trait or character effected :
a) Morphological mutation: A mutation that alters the morphological
features of an individual
b) Biochemical mutation: A mutation that alters the biochemical
function of an individual.
6. Based on visibility or quantum of morphological effect
produced :
a) Macro-mutations: Produce a distinct morphological change in
phenotype (which can be detected easily with out any confusion due to
environmental effects) Generally found in qualitative characters. Eg :
colour of flowers, height of plant etc.
b) Micro-mutations: Mutations with invisible phenotypic changes,
(which can be easily confused with effects produced due to environment).
Generally observed in quantitative characters.
7. Based on the site of mutation or on cytological basis :
a) Chromosomal mutations: Mutations associated with detectable
changes in either chromosome number or structure.
b) Gene or point mutations: Mutations produced by alterations in base
sequences of concerned genes.
c) Cytoplasmic mutations: Mutations associated with the changes in
chloroplast DNA (cpDNA) and mitochondrial DNA (mtDNA).
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Lecture:19 Mutagenic agents: physical and chemical mutagens
mutagen is a physical or chemical agent that changes the genetic
material, usually DNA, of an organism and thus increases the frequency of
mutations above the natural background level.
Mutagens may be physical or chemical.
I. Physical mutagens
Physical mutagens are radiations. Radiation causing mutations are of two
types (1) Ionizing radiation (2) Non-ionizing radiation.
1. Ionizing radiation
Ionizing radiations are those which when pass through matter, transfer
energy to the matter rendering it to lose electrons. Ionizing radiation
affected atoms of the matter becomes positively charged particles called
ions. Because of these, the molecule containing the positively charged
particles undergoes chemical change.
When this change occurs in DNA molecule, the result is a heritable
changemutation.
There are different types of ionizing radiations. They are,
A. Non particulate (Electromagnetic and sparsely ionizing)
(i) X-rays- They are produced by X-ray machines. They are sparsely
ionizing, non particulate and penetrating. Hard X-rays have wave lengths
of 0.1 to 0.01Aand soft x-rays have 1 to 10 Awave lengths.
(ii) Gamma rays– They are produced by 60 Co and other radioactive
isotopes.They are shorter in wave length than x-rays (0.01 A) and more
penetrating than X rays.
B. Particulate
(iii) Alpha particles: They are produced by radioisotopes of heavier
elements. They have two protons and two neutrons. They are positively
charged and less penetrating than neutrons and beta rays; Densly ionizing
(iv) Beta particles : They are high energy electrons produced by decay of
radioactive isotopes like 32P, 35S, 3H. They are more penetrating than
particles, but less penetrating than X rays; Sparsely ionizing.
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(v) Fast and thermal neutrons: They are neutral in charge and
produced by cyclotron of atomic reactors by radioactive decay of heavier
elements. They are highly penetrating. (Isotopes are chemically identical
substances having the same no. of protons but different no. of neutrons.
Radioisotopes or radioactive isotopes spontaneously disintegrate Eg. 32P in
to an element with less no. of neutrons).
2. Non ionizing radiations
Non ionizing radiations are those which when pass through matter transfer
energy to the matter rendering it‘s electrons to move to higher energy levels
(higher orbits). Incase of ionizing radiations, electrons are lost by the
matter, but incase of nonionizing radiaons, electrons are raised to higher
energy levels (Excitation). The atoms in excited shows increased activity.
Eg. UV rays: They are produced by mercury vapour lamp and the weave
length is 100-3900°A. They are lower in energy and less penetrating.
Hence, thin tissues like pollen of plants or eggs of Drosophiea are irradiated
using UV rays to induce mutation. Since, DNA bases show maximum
absorption at 2540°A. The wavelength of UV is suitable for mutation.
Dimer formation and deamination occur due to UV radiation.
2. Chemical mutagens: Oehlkers in 1943 found that mixtures of
ethylurethane and potassium chloride induced translocations in Oenothera.
Auerbach and Robson reported the mutagenic action of mustard gas in
1946. Different categories of chemical mutagenic agents are given below:
1. Alkaylating agents
(i) Sulphur mustards: Eg. Dichloro Diethyl Sulphide (mustard gas)
(ii) Nitrogen mustards Eg. 2 –Chloro ethyl dimethyl amine, Di (2-
chloro ethryl) amine
(iii) Epoxides Eg. Ethyl oxide, Glycidol
(iv) Ethylene imines Eg. Ethylne imine (EI), Acetyl ethylene imine
(v) Sulphate, Sulphonates, Sultones and lactones
Eg. Dimethyl sulphate (DMS) Diethyl sulphate (DES)
Methyl methane sulphonate (MMS)
Ethyl methane sulphonate (EMS) – CH3 SO2OC2H5)
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(vi) Diazo alkanes and nitroso compounds
Eg.Diazomethane, Diagoethane, Nitroso ethyl urea.
2. Acridine dyes Eg. Acridine orange, Ethidium bromide.
3. Base analogues Eg. 5 bromo uracil, 5 Chloro uracil, 2 Amino purine
Among these some of the alkylating agents viz, EMS, MMS, DES are
frequently used for induced mutagenesis.
Mechanisms of chemical mutagenesis
i. Tautomeric shift: If the chemical mutagens change the amino group (-
NH2) into imino group (- NH) in purines, A (amino adenine) = T pairing in
DNA is converted to A (imino adenine) = C pairing. Similarly C=G pairing
is to converted to C = A pairing. This is called as tautomeric shift.
In case of pyrimidines, keto group (C=O) is converted to enol group (COH).
Because of this A = T (keto) pairing in converted to G=T (enol) pairing.
(ii) Substitution: Base analogues substitute for purine and pyrimidines
during nucleotide and DNA synthesis.
(i) Deamination: Amino group (NH2) is converted to keto
group(C=O). Adenine is converted to hypoxanthine and cytosine is
converted to uracil.
Lecture:20
Induction of mutation, Methods of inducing mutation & CIB technique
Mutations can be induced by several methods. The three
general approaches used to generate mutations are radiation,
chemical and transposon insertion. The firstinduced
mutations were created by treating Drosophila with X-rays.
Using this a pproach Mueller to induce lethalmutations.
CIB Method:
This method was developed by Muller for detection of induced sex linked
recessive lethal mutations in Drosophila male. In this technique, C
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represents a paracentric inversion in large part of X-chromosome which
suppresses crossing over in the inverted portion. The I is a recessive lethal.
Females with lethal gene can survive only in heterozygous condition.
The B stands for bar eye which acts as a marker and helps in identification
of flies. The I and B are inherited together because C does not allow
crossing over to occur between them. The males with CIB chromosome do
not survive because of lethal effect.
The important steps of this method are as follows:
(a) A cross is made between CIB female and mutagen treated male. In
F1 half of the males having normal X-chromosome will survive and those
carrying CIB chromosome will die. Among the females, half have CIB
chromosome and half normal chromosome (Fig. 14.2). From F1, females
with CIB chromosome and male with normal chromosome are selected for
further crossing.
b) Now a cross is made between CIB female and normal male. This time the CIB
female has one CIB chromosome and one mutagen treated chromosome received
from the male in earlier cross.
This will produce two types of females, viz., half with CIB chromosome and half
with mutagen treated chromosome (with normal phenotype). Both the progeny
will survive. In case of males, half with CIB will die and other half have mutagen
treated chromosome.
If a lethal mutation was induced in mutagen treated X-chromosome, the
remaining half males will also die, resulting in absence of male progeny in the
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above cross. Absence of male progeny in F2 confirms the induction of sex linked
recessive lethal mutation in the mutagen treated Drosophila male.
82
Lecture :21Qualitative & Quantitative traits, Polygenes
and continuous variations
qualitative Traits
Some examples of qualitative traits include round/wrinkled skin in pea
pods, albinism and humans' ABO blood groups. The ABO human blood
groups illustrate this concept well. Except for some rare special cases, the
humans can only fit into one of four categories for the ABO part of their
blood type: A, B, AB or O. Since the ABO part of your bloodtype fits neatly
into four categories, it is a qualitative trait. You can often represent
qualitative traits with a number.
Quantitative Traits:
A quantitative trait is a measurable phenotype that depends on the
cumulative actions of many genes and the environment. These traits can
vary among individuals, over a range, to produce a continuousdistribution
of phenotypes. Examples include height,weight and blood pressure.
Examples of Quantitative Traits
Similarly, examples can help people assimilate the idea of quantitative traits. These
traits include height, intelligence and skin color. In some organisms, disease
resistance is a quantitative trait. Human height illustrates the concept well. Height
can occur across a range. While you can say that someone is "short" or "tall," these
are arbitrary values, not innate categories. Instead, the most accurate way to
measure height is with a numerical value, making it a quantitative trait.
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84
Variation is all the differences which exist between members of the same species.
There are two kinds of variation; continuous and discontinuous.You should be able
to give some examples of each.
1.Continuous variation is variation that has no limit on the value that can occur
within a population. A line graph is used to representcontinuous variation. Some
examples of continuous variation are : height. weight. Some examples of
continuous variation are : Height , weight, heart rate, finger length ,leaf length
2.Discontinuous variation is variation that has distinct groups for
organisms to belong to. A bar graph is used to represent discontinuous
variation.
Some examples of discontinuous variation are:
tongue rolling
finger prints
eye colour
blood groups
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Lecture :22 Multiple factor hypothesis
A hypothesis to explain quantitative variation by assuming the interaction
of a large number of genes (polygenes) each with a small additive effect on
the character.
Multiple factor
It is quite natural that small differences exist among individuals of similar
genotype due to the effect of environment on genotype. On the other hand,
there are some heritable differences also exist with continuous variation.
Most of the economical traits show continuous
variation and they are measurable or quantifiable.
Quantitative characters. Quantitative characters are traits which show
continuous variation and governed by a large number of genes called
multiple genes or multiple factors or polymeric genes or polygenes. Their
inheritance follows same mendelian principles.
Quantitative characters. Qualitative characters show
discontinuous variation and
are governed by one or two major genes or oligognes

Multiple factor Hypothesis (Nilson – Ehle)
Nilson-Ehle studied Kernel colour in wheat concluded that is a quantitative
character He crossed true breeding red kernel whet (RR) with true breeding
white (rr) and the F1 was red (Rr) and the F2 segregated for red and white
in 3:1 ratio indicating the dominance of red over white.
However, careful examination indicated the variation in red color among
the red color progenies. F1 red was not as intense as one of the parents. In
F2 he could observe two grades of red ie. one was red as that of one of its
parent, two were higher red as that of F1 individuals.
In some crosses, a ratio of 15 red : 1 white was found in F2 indicating that
there are two pairs of genes for red colour that either or both of these
can produce red kernels. Finally he observed different shades of red in F2
for red kernel types.
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Lecture:23 Cytoplasmic inheritance
1909 C. Correns Reported cytoplasmic inheritance in Mirabieis jaeapa.
Introduction to Cytoplasmic Inheritance:
The inheritance of most of the characters of an individual is governed by
nuclear genes. But in some cases, the inheritance is governed by
cytoplasmic factors or genes. When the transmission of characters from
parents to offspring is governed by cytoplasmic genes; it is known as
cytoplasmic inheritance or extra nuclear inheritance or extra chromosomal
inheritance or non-mendelian inheritance or organellar inheritance.
The first case of cytoplasmic inheritance was reported by Conens in 1909 in
four ‗o‘ clock (Mirabilis jalapa) for leaf colour. Later on, cytoplasmic
inheritance was reported by various workers in various organisms.
The smaller inheritable extra chromosomal unit is called as plasma gene and
all the plasmagenes of a cell constitute the Plasmon (like the genome).
Cytoplasmic inheritance is due to the plasmagenes located in cell organelles
that are integral constituents of normal cells.
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The characteristic features of this inheritance are summarized
below.
1. Different in reciprocal crosses
In Mendelian inheritance, the results of reciprocal crosses are identical
(one exceptional – sex linked inheritance). If the character is transmitted
through cytoplasm, the reciprocal cross results will be different.
2. Somatic segregation
Plasma genes generally show somatic segregation during mitosis, a feature
of rare occurrence in the case of nuclear genes.
3. Non-mappability
Gene controlled characters shows linkages and hence they are mappable.
But the characters transmitted through cytoplasm show no linkage. Hence,
they are not mappable.
4. Non-Segregation
Segregation is typical of Mendalian heredity. The cytoplasmic heredity fails
to show segregation. Sometimes, segregation may occur in cytoplasmic
heredity also. But it will not be consistent with the segregation of
chromosomes.
5. Indifference to nuclear substitution
When the nucleus is transplanted, no change is found in the cytoplasmic
inheritance.
6. Infection like transmission
Cytoplasmic inheritance seems like infection through some agents.
The cytoplasmic inheritance is of two types:
1) Plastid inheritance and
2) mitochondrial inheritance.
1. Plastid Inheritance:
Chloroplasts are the important plastids. Plastids have green pigments
called chloroplasts. Plastids self-duplicate, have some amount of DNA and
play an important role in cytoplasmic inheritance.
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Some examples of plastid inheritance are given below:
Mirabilis jalapa:
The first conclusive evidence of cytoplasmic inheritance was reported by Correns in
1909 for leaf colour in four ‗o‘ clock plant (Mirabilis jalapa). This plant has three types of
leaves, viz., green, white and variegated. Three types of results were obtained from
crosses between these genotypes as given below.
1. When green was used as female and either green, white or variegated as male, all
individuals in F1 were green.
2. When white was used as female and either green, white or variegated as male, all
individuals in F1 were white.
3. When variegated was used as female and either green, white or variegated as male,
various proportions of green, white and variegated individuals were obtained in F1 (
The inheritance is governed by chloroplasts which are originated from proplastids. If the
proplastids are normal, they will develop into normal chloroplasts and when proplastids
are mutants, they will produce white chloroplasts. This suggests that green leaf branches
have normal chloroplasts; white branches have mutant chloroplasts and variegated have
a mixture of both normal and mutant chloroplasts.
Since cytoplasm is co ntributed to the zygote mainly by female parent, the plastids are
transmitted to the zygote from the female parent. These plastids are responsible for
variation in the crosses of green, white and variegated leaves.
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ex: (ii) Plastid inheritance in Oenothera (iii)Iojap in Maize: iv) Zebrina:
2. Mitochondrial Inheritance: The inheritance of some characters is
governed by mitochondrial DNA. The examples of mitochondrial inheritance
include cytoplasmic male sterility in plants, pokyness in Neurospora, petite in
yeast, etc.
(i) Cytoplasmic Male Sterility:
There are three types of male sterility in crop plants, viz., genetic (controlled by
nuclear genes), cytoplasmic (controlled by plasma genes) and cytoplasmic genetic
(controlled by both nuclear and plasma genes). The cytoplasmic male sterility is
controlled by plasma genes associated with mtDNA or cpDNA.
The CMS lines are maintained by crossing them with a fertile line known as
maintainer line. Three types of CMS lines, viz., CMS-T, CMS-C, and CMS-S have
been studied in maize. It is believed that cytoplasmic male sterility is controlled
by plasma genes which are part of mt-DNA.
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In other words, in maize cytoplasmic sterility is governed by mitochondrial DNA.
Cytoplasmic sterility is found in several other crop plants, viz., pearl millet,
Sorghum, cotton, etc.
(ii) Chlamydomonas: This is a unicellular green alga. In this plant, many
inherited chloroplast markers are available. Many of them are drug resistant
alleles. Ruth Sager has demonstrated recombination between them and found a
circular map.
(iii) Petite in Yeast: Petite yeast or little yeast is Ascomycetes. Petite is a
mutant from normal condition and is very small or little in size. This character is
believed to be controlled by cytoplasmic factor. Petite mutant has defective
cytoplasmic factor and is unable to grow on glucose.
Petite allele lacks cytochrome a and b and enzyme cytochrome oxidase. The mt-
DNA in petite has altered composition. This suggests that petite character is
controlled by plasma genes contained in mt- DNA.
Lecture: 24 Genetic disorders
A genetic disorder is a genetic problem caused by one or more
abnormalities in the genome, especially a condition that is present from birth
(congenital). Most genetic disordersare quite rare and affect one person in
every several thousands or millions
Types of genetic disorders
• Autosomal disorders: found on chromosome pairs 1-22 (autosomes)
• Sex-linked (recessive) disorders: found on chromosome pair 23 (sex chromosomes)
• Chromosomal disorders: too few or too many of a chromosome
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1.Sex-linked disorders
Found on X chromosome, generally affects men --
• Colorblindness: can‘t distinguish colors, commonly red/green (1:10 males, 1:100
females)
• Hemophilia: blood fails to clot after injury (1:10,000 males)
• Duchenne Muscular Dystrophy: rapid weakening and loss of skeletal tissue
(1:3,500 boys)
2.Autosomal recessive disorders
• Cystic Fibrosis (CF): Mucus clogs airways and ducts in lungs and other organs;
digestive problems (1:3,500)
• Albinism: lack of pigment (melanin) in skin, hair, eyes, extremes case deafness
(1:17,000)
• Sickle Cell Disease: Abnormal hemoglobin is rigid and sickleshape, can‘t transport
oxygen well and get stuck in capillaries tissues (1:500 African-American births, 1:1,200
Hispanic births); heterozygous = malaria resistant
• Phenylketonuria (PKU): Destroys the nervous system and causes
mental retardation (1:15,000), easily treated
• Tay-Sachs Disease: Causes mental retardation, blindness, muscle weakness
(1:5,000); 1:27 eastern European Jews is a carrier
3.Autosomal dominant disorders
• Huntington’s Disease (HD): Wasting away of brain tissue, causes uncontrolled
movements, emotional disturbances, mental deterioration, fatal (8:100,000)
• Acondroplasia: Bone disorder causing dwarfism (1:30,000)
4.Chromosomal disorders
• Having more or less than 46 chromosomes (in humans)
• Generally NOT inherited
• Happens when homologous chromosomes fail to separate duringmeiosis →
nondisjunction
5.Down Syndrome (DS)
• Extra chromosome 21 (aka Trisomy 21)
• Birth defects, mild to severe mental retardation, deformed facial features (1:800)
6.Turner’s Syndrome
• Missing an X chromosome
• Person is sterile, sex organs do not develop at puberty (1:2,500 females)
7.Klinefelter's Syndrome
• An extra X chromosome (XXY)
• Sterile, tends to have both stunted male and feminine features (1:750 males)
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Lecture:25 Nature, structure and types of genetic material***
1952 : Hershey (Nobel Prize 1969) and Chase demonstrated that the genetic
material of bacteriophage T2 is DNA.
1944: O.T. Avery, C.M. MacLeod and M. McCarty
Explained the significance of DNA and proved that it is the genetic material.
Properties of Genetic Material :
A molecule that can act as a genetic material must fulfill the following criteria :
1. The hereditary information must be present in the coded form in the structure of
genetic material and its genes.
2. The structural elements of the genetic material must be ubiquitous in their distribution
3. It should have vast diversity as is found in the innumerable forms of life.
4. It should be able to replicate or form its carbon copies.
5. It should be present in all the cells.
6. It should be same both in quantity and quality in all the somatic cells of an individual.
Lecture:26 Proof for DNA as genetic material
1952 A.D. Hershey and M.J. Chase Provided experimental proof of
DNA as genetic material.
The first direct evidence showing that the genetic material is DNA rather
than protein or RNA was published by O.T. Avery, C.M. Macleod and
M. Mc Carty in
1944. The most definite experiments conducted by them proved that the
DNA was the transforming principle (DNA is the genetic material)
involved the use of enzymes that degrade DNA, RNA, or protein.
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In separate experiments highly purified
DNA from Type IIIS cells was treated with (1) Deoxyribonuclease (DN ase which
degrades DNA) (2) Ribo nuclease (RN ase which degrades RNA) or (3) Proteases
(which degrade proteins) and then tested for its ability to transform Type II R
cells to
Type IIIS. Only Deoxyribonuclease had any effect on the transforming
activity of the DNA preparation. It totally eliminated all transforming
activity. The results obtained by Avery and co-workers clearly established
that the genetic information in pneumococcus was present in DNA. We
now
know that the segment of DNA in the chromosome of pneumococcus that
carries the genetic information specifying the synthesis of a Type III
capsules is physically integrated into the chromosome of the Type II R
recipient cell by a specific recombination process occurring transformation.
1.Hershey and Chase Experiment:
The additionae direct evidence indicating that DNA is the genetic materiae
was pubeished in 1952 by A.D Hershey (1969 Nobee .rize Winner) and
M.Chase. These experiments showed that the genetic information of a
particuear bacteriae virus (bacteriophage T2) was present in DNA.
The proof for DNA as a genetic material came from the experiment. Alfred
Hershey and Martha Chase (1952) carried out some experiments with the
viruses that infect bacteria. These viruses are called bacteriophages.
The genetic material of bacteriophage enters the bacterial cell after the
bacteriophage gets attached to the bacteria. The bacterial cell treats the
genetic material of the virus (bacteriophage) like its own genetic material
and then produces more virus particles. Hershey and Chase experimented
to find out whether it was protein or DNA from the virus that had entered
into the bacteria.
94
For this, they took two separate media for growing these
bacteriophages:
(i) Out of two, one medium contained radioactive phosphorus and the other
medium contained radioactive sulphur. Viruses (bacteriophage) were then
grown on each medium.
(a) The viruses grown in the presence of radioactive phosphorus (32P)
contained radioactive DNA (but not radioactive protein). This is because
DNA contains phosphorus not protein.
(b) In the same way, the viruses grown in the medium containing
radioactive sulphur (35S) now contained radioactive protein (not radioactive
DNA). This is because DNA does not contain sulphur.
(ii) These radioactive viruses (bacteriophages) were then allowed to attach
to bacteria (E. colt). As the process of infection with virus continued, the
bacteria were agitated in a blender and the viral coats of the bacteria were
removed.
(iii) When they were spinned in a centrifuge, the virus particles were
separated from the bacteria.
(iv)They observed that the bacteria that were infected with virus containing
radioactive DNA were radioactive, whereas the bacteria that were infected
with radioactive proteins were not radioactive.
(v) This indicates that only DNA not the protein coat entered the bacterial cell.
(vi) Thus, the genetic material that is passed from virus to bacteria is DNA.
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2.Frederick Griffith: Bacterial transformation
In 1928, British bacteriologist Frederick Griffith conducted a series of
experiments using Streptococcus pneumoniae bacteria and mice. Griffith
wasn't trying to identify the genetic material, but rather, trying to develop a
vaccine against pneumonia. In his experiments, Griffith used two related
strains of bacteria, known as R and S.
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R strain. When grown in a petri dish, the R bacteria formed colonies, or
clumps of related bacteria, that had well-defined edges and a rough
appearance (hence the abbreviation "R"). The R bacteria were nonvirulent,
meaning that they did not cause sickness when injected into a mouse.
S strain. S bacteria formed colonies that were rounded and smooth (hence
the abbreviation "S"). The smooth appearance was due to a polysaccharide,
or sugar-based, coat produced by the bacteria. This coat protected the S
bacteria from the mouse immune system, making them virulent (capable of
causing disease). Mice injected with live S bacteria developed pneumonia
and died.
As part of his experiments, Griffith tried injecting mice with heat-killed S bacteria
(that is, S bacteria that had been heated to high temperatures, causing the cells to
die). Unsurprisingly, the heat-killed S bacteria did not cause disease in mice.
The experiments took an unexpected turn, however, when harmless R bacteria
were combined with harmless heat-killed S bacteria and injected into a mouse. Not
only did the mouse develop pnenumonia and die, but when Griffith took a blood
sample from the dead mouse, he found that it contained living S bacteria!
Lecture:27 Replication of genetic
Meaning of DNA Replication:
One of the most important properties of DNA functioning as the genetic
material is that it can make exact copies of itself (autocatalytic function)
forming the basis for transmission of hereditary characters it
process is called replication.
Central Dogma:
Genetic material is always nucleic acid and it is always DNA except some viruses.
DNA is the storehouse of genetic information. This information is in the form of
nucleotide sequence called gene
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material
controls. This
genetic code.
98
This information is copied and transcribed into RNA molecules. This information
(genetic code) is for specific sequence of amino acids. The RNA then synthesizes
proteins, which are specific sequence of amino acids, by a process called
translation. In 1956 Francis Crick called this pathway of flow of genetic
information as the Central Dogma.
Both transcription and translation are unidirectional. Proteins never serve as template
for RNA synthesis. But sometimes RNA acts as a template for DNA synthesis (reverse
transcription), Example is RNA viruses (HIV virus).
Basic Features of DNA Replication:
All genetically relevant information of any DNA molecule is present in its sequence of
bases on two strands. Therefore the main role of replication is to duplicate the base
sequence of parent DNA molecule. The two strands have complementary base pairing.
Adenine of one strand pairs with thymine of the opposite strand and guanine pairs with
cytosine. This specific complementary base pairing provides the mechartism for the
replication.
The two strands uncoil and permanently separate from each other. Each strand
functions as a template for the new complementary daughter strand. The base sequence
of parent or old strand directs the base sequence of new or daughter strand. If there is
adenine in the parent or old strand, complementary thymine will be added to the new
strand.
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Similarly, if there is cytosine in the parent strand, complementary guanine
will be copied into the new daughter strand. Maintenance of integrity of
genetic information is the main feature of replication.
DNA Replication
It is proposed by Watson and Crick. According to this method, both
the strands of parentae DNA separate from one another. Each oed strand
synthesizes a new strand. Thus, each of the two resueting DNA has one
parentae and one new strand. This method of DNA repeication is
universaeey accepted because there are severae evidences in support of
semi conservative method and it consists of severae steps.
1. Initiation of Replication DNA repeication starts at a specific point
on
the chromosome. This unique site is known as origin. The site of initiation
differs from organism to organism. Sometime repeication starts with an
incision made by an incision enzyme known as endonuceease.
2. Unwinding of strands. The two stands of DNA doubee heeix unwind.
The opening of DNA stands take’s peaces with the heep of DNA unwinding
protein.
3. Formation of RNA Primer. Synthesis of RNA primer is essentiae for
initiation of DNA synthesis RNA primer is synthesized by the DNA
tempeate near the origin with the heep of a speciae type of RNA
poeymerase.
4. Synthesis of DNA on primer. After formation of RNA primer, DNA
synthesis starts on the RNA primer. Deoxyribose nuceeotides are added to
the 3e end position of RNA primer. The main DNA strand is synthesized on
the DNA tempeate with heep of DNA poeymerase. The DNA synthesis
takes
peace in short pieces. Which are known as Okazaki fragments.
5. Removal of RNA Primer: DNA poeymerase degrades the RNA
primer This enzyme aeso cataeyzes the synthesis of short DNA segment to
repeace the prime. The newey synthesized segment is joined to the main
DNA strand with the heep of DNA eigase enzyme.
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Modes of DNA Replication:
There are three possible modes of DNA replication:
(i) Semiconservative; (ii) Conservative; and iii) Dispersive.
i. Semiconservative:
The semiconservative mode of DNA replication was suggested (1953) by
Watson and Crick along with the double-helix model of DNA. Here the
replication of DNA involves the progressive separation of the two strands of
DNA molecules by breaking up of hydrogen bonds between base pairs.
Each strand, acting as template, synthesizes their complementary new
strand on itself taking raw materials from the nuclear sap. Thus two
daughter DNA helices are formed. Each daughter DNA helix has one old or
parental and one new strand.
It indicates that in each daughter DNA helix, one parental strand is
retained and conserved while its complementary strand is new. Hence,
according to this mode of DNA replication, the parental DNA is partially
conserved in each new daughter DNA molecule. So this mode of DNA
101
replication is called semiconservative replication [Fig. 20.2(a)].
ii. Conservative:
According to this mechanism, the replication of DNA may be conservative which means
that the parental double helix is totally conserved and remains intact and somehow
directs the synthesis of a daughter double helix made of two newly synthesised strand
[Fig. 20.2(b)],
iii. Dispersive:
In dispersive replication, the old or parental DNA molecule breaks up into several
pieces. Each piece then replicates. The old and new segments recombine randomly to
yield daughter DNA molecules having both old and new segments along their entire
length [Fig. 20.2(c)],
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Lecture: 28 Genetic code & Protein synthesis
Definition of genetic code
The genetic code is the relationship between the sequences of bases in DNA
(on its mRNA) and the sequence of amino acid in the protein. The sequence
of three nucleotides in DNA (or its mRNA) that specifies a particular amino
acid in the protein synthesis is called genetic code.
The main points related to genetic code are given below:
1. The genetic code is ‗read‘ in triplets of bases called codons. In other
words, a set of three nucleotide bases constitutes a codon.
4. The code uses codons to make the amino acids that, in turn, constitute
proteins.
5. Each triplet [codon] specifies one amino acid in a protein structure or a start
signal or stop signal in protein synthesis.
6. The code establishes the relationship between the sequence of bases in nucleic
acids (DNA and the complementary RNA) and the sequence of amino acids in
proteins.
7. The code explains the mechanism by which genetic information is stored in
living organisms.
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The codons are of two types
(1) Sense codons, and (2) Signal codons.
These are defined below:
1. Sense Codon: Those codons that code for amino acids are called sense codons.
There are 61 sense codons in the genetic code which code for 20 amino acids.
2. Signal Codons: Those codons that code for signals during protein synthesis are
known as signal codons. There are four codons which code for signal. These are AUG,
UAA, UAG and UGA.
Signal codons are of two types, viz: (i) Start codons, and (ii) Stop codons.
(i) Start Codons:
The codon which starts the translation process is known as start codonl. It
is also known as initiation codon because it initiates the synthesis of
polypeptide chain. Example of this codon is AUG. This codon also codes for
the amino acid methionine. In some cases, valine (GUG) codes for start
signal. In eukaryotes, the starting amino acid is methionine, while in
prokaryotes it is N-formyl methionine.
(ii) Stop Codons:
Those codons that provide signal for termination of polypeptide chain are
known as stop codons. These codons are also known as termination codons
because they provide signal for the termination and release of polypeptide
chain. Examples of stop codons are UAA, UAG and UGA. Since stop signal
codons do not code for any amino acid they were earlier called as non-sense
codons.
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Signals of stop or termination codons are read by proteins called release
factors. Stop signals are not read by tRNA molecules. In prokaryotes,
release factors are RF1, RF2 and RF3. The factor RFI recognizes stop
codons UAA and UAG, while RF2 recognizes UAA and UGA. The function
of RF3 is to stimulate RFI and RF2. In eukaryotes, a single release factor
(RF) recognizes all three stop codons..
DNA Codons:
These are the codons as they are read on the sense (5′ to 3′) strand of DNA.
Except that the nucleotide thymine (T) is found in place of uracil (U), they
read the same as RNA codons. However, mRNA is actually synthesized
using the antisense strand of DNA (3′ to 5′) as the template.
Nature / Properties of Genetic code;
There are several important features or properties of a genetic code.
1. The code is triplet: The tripeet code was first suggested by Gammow
in 1954. In a tripeet code, three RNA bases code for one amino acid.
2. The code is universal: The same genetic code is appeicabee to aee
forms of organisms from microbes to human beings.
3. The code is comma less: The genetic code is without a comma or
break. The codons are continuous and there are no breaks between the
codons. A change or deeetion of a singee base in the code wiee aeter the
entire sequence of aminoacid to be synthesized.
4. The code is non-overlapping: Three nuceeotides or bases code for
one aminoacid and six bases wiee code for two amino acids. In a non –
over eapping code, one base or eetter is read oney once.
5. The code is non – ambiguous: Out of the 64 codons, 61 code for 20
different aminoacid, whiee 3 are nonsense codons. None of the codons
code
for more than one aminoacid.
105
6. The code is degenerate: In most cases, severae codons code for the
same aminoacid. Oney two amino acids, viz., tryptophan and methionine
are coded by one codon each. Nine amino acids are coded by two codons
each, one amino acid (isoeeucine) by three codons each, five amino acids
by four codons each and three amino acids by six codons each.
This type of redundancy of genetic code is caeeed degeneracy of genetic
code. Such a system providesprotection to the organisms against many
harmfue mutations. If one base of codon is mutated, there are other
codons, which wiee code for the same amino acid and thus there wiee be
no
aeteration in poeypeptide chain.
7. The code has polarity: The code has a definite direction for reading
of message, which is referred to as poearity. Reading of code in opposite
direction wiee naturaeey specify for another amino acid exampee: GUC
codes for vaeine, if reversed, CUG codes for Leucine.
Protein Synthesis***
1955 L. Pauling Studied the relationship between the structure of the DNA
molecule and protein synthesis.
Proteins are giant molecules formed by polypeptide chains of hundreds to
thousands of amino acids. These polypeptide chains are formed by about
twenty kinds of amino acids. An amino acid consists of a basic amino group
(-NH2) and an acidic carboxyl group (-COOH). Different arrangement of
amino acids in a polypeptide chain makes each protein unique.
Proteins are fundamental constituents of protoplasm and building material
of the cell.
Proteins are composed of long chains of amino acids.
The process of utilizing the genetic code to create proteins,
known as protein synthesis, has two steps:
transcription and translation.
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Lecture: 29 Transcription mechanism of genetic material(DNA)
This process of production of mRNA from DNA is called
transcription.
Transcription Definition:Transcription refers to the first step of gene
expression where an RNA polymer is created from a DNA template. This
reaction is catalyzed by enzymes called RNA polymerases and the RNA
polymer is antiparallel and complementary to the DNA template. The
stretch of DNA that codes for an RNA transcript is called a transcription
unit and could contain more than one gene.
These RNA transcripts can either be used as messengers to drive the
synthesis of proteins or be involved in a number of different cellular
processes. These functional or non-coding RNA could be transfer RNA
(tRNA), ribosomal RNA (rRNA), or direct gene regulation through RNA
interference (RNAi) and the formation of heterochromatin.
Mechanism of Transcription
Transcription creates a single stranded RNA molecule from double
stranded DNA. Therefore, only the information in one of the strands
is transferred into the nucleotide sequence of RNA. One strand of
DNA is called the coding strand and the other is the template
strand. Transcription machinery interacts with the template strand to
produce an mRNA whose sequence resembles the coding strand.
Other names for the template strand include antisense strand and
master strand.
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Two different genes on the same DNA molecule can have coding sequences
on different strands.
Transcriptional activity is particularly high in the G1 and G2 phases of the
cell cycle when the cell is either recovering from mitosis or preparing for
the dramatic events of the next cycle of cell division.
1.Transcription Initiation:
Transcription begins with the binding of an RNAP in the presence of
general transcription factors to the promoter region upstream of the
transcription start site on the DNA. Prokaryotic RNAP binds with a sigma
factor, while eukaryotic RNA polymerases can interact with a number of
transcription factors as well as activator and repressor proteins.
Initially, after the binding of RNAP to the promoter region, the DNA
remains in a double-stranded form. This is called a ‗closed complex‘
between DNA and RNAP. Thereafter, RNAP along with transcription
factors unwinds a segment of the DNA and interacts with the exposed
nucleotides in an open complex creating a ‗transcription bubble‘. RNAP
then cruises along the DNA scanning for the transcription start site inside
the bubble. Once the start site is located, the first two nucleotides of the
transcript are bonded to each other.
2.Escape from Promoter
After the first few nucleotides are added to the putative RNA transcript,
RNAP enters a critical, unstable phase. It can either continue towards
productive initiation, or pull DNA towards itself, creating scrunched open
DNA inside the polymerase.
If RNAP rewinds the downstream portion of the DNA, the putative RNA
transcript is released because the DNA-RNAP complex reverts to its initial
open configuration. This is called abortive initiation.
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However, if the upstream portion of DNA is rewound and ejected from the
enzyme, RNAP moves ahead. Its interaction with the promoter region is
broken and the RNA transcript reaches a length of 14-15 nucleotides. This is
called escape from the promoter and is accompanied by changes to
proteinprotein
and protein-DNA interactions. Some transcription factors are
released and transcription moves towards the elongation phase.
3.Transcription Elongation:
Once a short RNA oligonucleotide of more than 15 bases is formed, RNAP
proceeds along the template DNA strand. The transcript is identical to the
coding strand, except that the nucleotide backbone has ribose sugar instead
of deoxyribose, and adenine base pairs with uracil, instead of thymine.
RNAP can catalyze the formation of a phosphodiester bond between the
fifth carbon atom of an incoming nucleotide and the third carbon atom of
the last nucleotide in the existing transcript.
4.Transcription Termination
Unlike DNA replication, where the DNA polymerase continues to add
nucleotides till it reaches the end of the molecule, transcription has to be
terminated at a particular location for effective gene regulation and
expression. Prokaryotic transcription termination can occur through the
formation of a double-stranded region within the RNA or through the
action of a protein called Rho.
The first method involves the transcription of a G:C rich region followed by
a string of uracils that form weak hydrogen bonds with template DNA. The
G:C rich region can loop over itself to form a hairpin-like structure stalling
the RNAP and transcription machinery. This, combined with the weaker
bonds between uracil and the template DNA can prise the RNA away from
the transcription machinery and lead to termination. This process also
involves a protein called NusA
Rho-dependent transcription termination involves the binding of Rho
protein to a sequence on the transcribed RNA. This sequence, which is
downstream from translation stop codons, allows Rho to bind to RNA and
cruise along the transcript in an ATP-dependent manner. When it
encounters a stalled RNAP, it binds to the enzy
and its associated machinery to dissociate from the DNA.
Eukaryotic transcription termination is much less understood, and most of the work has
focussed on the mechanisms of RNAP II. Transcription termination in eukaryotes is
coupled with post-transcriptional modifications and processing before the mature RNA
is exported to the cytoplasm.
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enzyme and causes the transcript
me also
110
Lecture:30 Translational mechanism of genetic material
Synthesis of polypeptide (amino acid) chain from mRNA molecule is
called translation.
After the mRNA has been transported to the rough endoplasmic reticulum,
it is fed into the ribosomal translation machineries. Ribosomes begins to
read the mRNA sequence from the 5` end to the 3` end. To convert the
mRNA into protein, tRNA is used to read the mRNA sequence, 3
nucleotides at a time..
Amino acids are represented by codons, which are 3-nucleotide RNA
sequences. The mRNA sequence is matched three nucleotides at a time to a
complementary set of three nucleotides in the anticodon region of the
corresponding tRNA molecule.
Opposite the anticodon region of each tRNA, an amino acid is attached and
as the mRNA is read off, the amino acids on each tRNA are joined together
through peptide bonds.
Translation is the mechanism by which the triplet base sequence of an
mRNA guides the linking of a specific sequence of amino acids to form a
polypeptide (protein) on ribosomes. All the proteins a cell needs are
synthesized by the cell within itself.
• Translation takes place in ribosomes. The information coded in the four bases
found in mRNA is translated into the instructions encoded by the 20 amino acids
used in the formation of proteins.
• In eukaryotes, mRNA travels out of the nucleus into the cytoplasm to attach to a
ribosome.
• Another form of RNA called transfer RNA (tRNA) is found in the cytoplasm of
the cell. There are many different types of tRNA, and each type binds with one of
the 20 amino acids used in protein formation.
• One end of a tRNA binds with a specific amino acid. The other end carries three
bases, known as an anticodon.
• The anticodon of the tRNA undergoes complementary base pairing with a series
of three bases on the mRNA, known as the codon.
• The mRNA codon codes for the type of amino acid carried by the tRNA.
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• A second tRNA bonds with the next codon on the mRNA. The resident tRNA
transfers its amino acid to the amino acid of the incoming tRNA and then leaves
the ribosome.
• This process continues repeatedly until the formation of a polypeptide chain (a
chain of amino acids).
• The process ends when the entire sequence of mRNA has been translated.
• The polypeptide chain falls away from the ribosome as a newly formed protein,
ready to go to work in the cell.
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Lecture:31 Gene concept: Gene structure and function***
1993 Sharp Roberts Proposed the split gene concept.
The genetic blueprint contained in the nucleotide sequence can determine
the phenotype of an individual. The hereditary units, which are transmitted
from one generation to the next generation are called genes. A gene is a
fundamental biological unit like atom which is the fundamental physical
unit.
Mendel was the first scientist who proposed genes as particulate units and
called them hereditary elements or factors. But the concept of gene has
undergone a considerable change since Mendel‘s time.
Modern Concept of Gene:
A gene can be described as a polynucleotide chain, which is a segment of DNA. It is a
functional unit controlling a particular trait such as eye colour.
Beadle and Tatum concluded by various experiments that gene is a segment of DNA that
codes for one enzyme. They proposed one gene-one enzyme hypothesis. But as some
genes code for proteins that are not enzymes, the definition of gene was changed to one
gene-one protein hypothesis.
Structure of a Gene: A gene is present only in one strand of DNA, which
is a double stranded helix. A gene consists of several different regions. The
main region is the coding sequence which carries information regarding
amino acid sequence of polypeptides. The region on the left side of coding
sequence (upstream or minus region) and on the right side (downstream or
plus region) consists of fairly fixed regulatory sequences. Regulatory
sequences consist of promoters which are different in prokaryotes and
eukaryotes.
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Lecture: 32 Gene regulation, operon concept, Lac and Trp operons
1961 A.E. Jacob and J. Monod Explained the genetic regulatory
mechanism in protein synthesis – Operon concept.
The Operon Model
The operon refers to a group of closely linked genes which act together and
code for various enzymes of a particular biochemical pathway. In other
words, operon is a model which explains about the one-off mechanism of
protein synthesis in a systematic manner.
The operon model of gene regulation was proposed by Jacob and Monod in
1961. They were awarded Nobel prize for this discovery in
1965. The operon model was developed working with lactose region (lac
region) of the human intestine bacteria E.coli. The gene regulation was
studied for degradation of the sugar lactose. The operon model consists of
seven main components, viz, (1) structural genes, (2) operator gene, (3)
promotor gene, (4) regulator gene, (5) repressor, (6) corepressor, and (7)
inducer. A brief description of these components is presented below:
Z= structural gene, y= Operator gene A= Regulator gene
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Structural genes
The lac operon of E.coli consists of three structural genes namely z,y and a .
These structural genes transcribe a single polycistronic mRNA molecule. This
mRNA molecule controls the synthesis of three different enzymes viz., β-
galactosidase, galactosidase permease and galactosidase transacetylease.
All the above three enzymes are involved in breakdown of lactose. The
function of all the structural genes is regulated by two controlling elements
namely regulator and operator. Thus, the main function of structural genes is
to control synthesis of protein through mRNA.
Operator gene
The operator is usually located between the promoter and the structural
genes. In lac oeron of E.coli, operator is located contiguous to the structural
genes. It is the binding site for the protein called repressor. When the
repressor is bound to the operator, transcription of the structural genes cannot
occur. Because the binding of the repressor to the operator strictly prevents
RNA polymerase from binding at the promoter site.
The promoter gene is always located contiguous with or even overlapping
with operator sequence or operator. The promoter segment is a place where
mRNA polymerase enzyme binds with DNA. The main function of promoter
gene is to initiate mRNA transcription. The promoter starts mRNA
transcription only when operator is free or when repressor is not bound to the
operator. The binding of repressor with operator inactivates the promoter gene
and prevents transcription.
Regulator gene
The regulator gene is located either on one end of the operon or away from
the operon. The function of the regulator gene is to synthesis a protein
called repressor. The repressor may be either active or inactive.
In the case of an inducible operon, the free repressor binds to the operator
and turning off the transcription. When the effectors molecule (the inducer)
is present, it binds to the repressor and becomes repressor-inducer
complex, which cannot bind the operator. There by the regulator gene turn
on the transcription of structural genes in the operon. In the case of
reversible operon, the repressor is inactive and cannot bind to the operon
there by transcription of structural genes in the operon is turned on. The
only repressor effectors molecule (co-repressor) is active in binding to the
operator and turn off the transcription of structural genes in the operon.
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Repressor
Repressor is a protein molecule. Its synthesis is directed by
regulator gene. It may be either in the active form or inactive form
as described above. It has affinity with operator gene. In the active
form, it binds with operator gene and prevents transcription and
protein synthesis by inactivating promoter gene. When it is in
inactive form, the transcription and protein synthesis can take
place. This can be inactivated by an inducer.
Corepressor
Corepressor is perhaps a product of one of the enzymes synthesized
by structural genes. The corepressor makes the inactive repressor
active in a repressible system after combining with the same. The
repressor – corepressor complex can block the operator gene and
stop protein synthesis by structural genes.
Inducer
Inducer is a substrate (i.e. lactose in lac operon) which promotes
transcription. It binds with repressor molecule and makes the same
inactive. The repressor then cannot bind with operator gene. Hence,
the transcription and protein synthesis can take place.
Mechanism of Gene Regulation
The mechanism of gene regulation is of two types, viz, (1) negative
regulation, (2) positive regulation. These are briefly described below:
Negative Control
In the negative regulation, absence of a product enhances the synthesis of
enzyme and presence of the product decreases the synthesis of enzyme. In
the lac operon of E. coei. The synthesis of protein depends whether the
operator gene is blocked or free. When the operator gene is free, protein
synthesis by structural genes will take place. On the other hand, when the
operator gene is blocked, the protein synthesis is prevented. Thus, the onoff
of protein synthesis is governed by the free and occupied position of the
operator gene. In negative control, regulator protein acts as a inhibitor and
prevents protein synthesis. In lac operon of E.coli,there is negative control
of gene regulation. In the negative control, the regulator protein is the
repressor which inhibits protein synthesis. In the inducible system,
the effector molecule is the inducer. The inducer binds with repressor and
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inactivates it so that it cannot bind with operator. Thus, inducer permits
protein synthesis by inactivating the repressor. In the repressible system,
the effector molecule is the corepressor. The corepressor on binding with
in-active repressor makes it active and inhibits protein synthesis, because
when repressor becomes active it will bind with operator and stop
transcription.
Positive Control
In positive regulation, presence of a product will enhance the synthesis of
enzyme. In other words, in positive control the regulator protein acts as an
activator and enhances the protein synthesis. The arabinose operon of
E.Coli is an example of positive gene regulation.

THE TRP OPERON

Bacteria such as Escherichia coei (a friendly inhabitant of our gut) need amino acids to
survive—because, like us, they need to build proteins. One of the amino acids they need
is tryptophan.
If tryptophan is available in the environment, E. coei will take it up and use it to build
proteins. However, E. coei can also make their own tryptophan using enzymes that are
encoded by five genes. These five genes are located next to each other in what is called
the trp operon.
[WHAT'S AN OPERON?]
If tryptophan is present in the environment, then E. coei bacteria don't
need
to synthesize it, so transcription of the genes in the trp operon is switched
"off." When tryptophan availability is low, on the other hand, the operon is
switched "on," the genes are transcribed, biosynthetic enzymes are made,
and more tryptophan is produced.
Structure of the trp operon
The trp operon includes five genes that encode enzymes needed for tryptophan biosynthesis,
along with a promoter (RNA polymerase binding site) and an
repressor protein). The genes of the
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operator (binding site for a
trpoperon are transcribed as a single mRNA.
operon
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Allele: An alternative form of a gene that occurs at the same locus on homologous
chromosomes, e.g., A, B, and O genes are alleles.
Amorph
A silent gene that does not produce a detectable product (antigen), e.g., O genes
in the ABO BGS.
Aneuploidy
Having an abnormal number of chromosomes, i.e., not an exact multiple of the
haploid number. For example, Downs syndrome (three #21 chromosomes) or
Klinefelter syndrome (XXY males).
Anticodon
A sequence of three bases in tRNA that is complementary to a codon in mRNA.
Enables tRNA to sequence amino acids in the order specified by mRNA.
Antithetical
Alternative forms of the same antigen produced by allelic genes, e.g., K and k
antigens in the Kell BGS or C and c antigens in the Rh BGS.
Autosome
A non-sex chromosome. Synonymous with somatic chromosomes (chromosome
pairs 1-22).
Balanced polymorphism
An equilibrium of two or more alleles that has remained constant over long
periods of time.
Barr body
The sex chromatin, the visible inactive X chromosome on the somatic cell nuclear
membrane.
Beneficial gene
A gene that confirms a trait that is advantageous to survival and that increases in
frequency, e.g., the Fy gene that produces the Fy(a-b-) phenotype which makes
West Africans resistant to certain types of malarial parasites.
Chimera
An extremely rare person composed of cells derived from different zygotes. Blood
group chimerism is shown by mixed field agglutination when antigen typing red
cells. Chimerism can be caused by dizygotic twins exchanging hematopoietic
stem cells in utero and continuing to form blood cells that are genetically
different, or by dispermic chimerism in which two separate zygotes develop into
one person.
Chromosome
Rod-shaped structures within the cell nucleus that carry genes encoded by DNA.
Cis position
Genes in the cis position are on the same chromosome of a pair of homologous
chromosomes. Mainly relates to the Rh BGS, e.g., in the
genotype CDe/cde, D and C genes are in the cis position.
Cloned gene
A recombinant DNA molecule with the gene of interest. (Also see recombinant
DNA.)
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Co-dominant
Genes are co-dominant if both alleles are expressed in the heterozygous state,
e.g., K and k genes in the Kell BGS.
Codon
A sequence of three bases in DNA or RNA that codes for a single amino acid.
Enables specific proteins to be made by specific genes.
Consanguinity
Having a common ancestor, i.e., being blood relatives. Mating between two first
cousins, for example, can be termed a consanguineous mating and is indicated in
a pedigree by a double bar between the two parents. Such mating can result in an
increased frequency of offspring who are homozygous for a recessive autosomal
trait possessed by both parents, e.g. cystic fibrosis or the amorphic type of Rh
null.
Crossing over
The exchange of genetic material between members of a pair of homologous
chromosomes. For example, if a mating between a male (MS/Ns) and a female
(MS/MS) results in an offspring who is MS/Ms, the recombinant child has
occurred due to crossing over in the father.
Deletion
An abnormality in which part of a chromosome (carrying genetic material) is lost.
Deleted phenotype
The condition in which antigens that are normally present are missing, e.g., the
Rh null phenotype in the Rh BGS. Deleted phenotypes can be caused by
inheritance of regulatory genes that do not allow functional (antigen-producing)
genes to make their products.
Diploid number of chromosomes
The number of chromosomes found in somatic cells, which in humans is 46.
Dizygotic twins
Twins produced from two separate ova that are separately fertilized, i.e. fraternal
twins. Only dizygotic twins can exhibit blood group chimerism (shown by mixed
field agglutination when antigen typing red cells).
DNA
Deoxyribonucleic acid. Composed of nucleic acids, these molecules encode the
genes that allow genetic information to be passed to offspring.
DNA polymerases
Enzymes that can synthesize new DNA strands using previously synthesized DNA
(or RNA) as a template.
DNA probe
A cloned DNA molecule labelled with a radioactive isotope (e.g., 32P or 35S) or a
nonisotopic label (e.g., biotin). Used in molecular genetics to identify
complementary DNA sequences by hybridizing to them.
Dominant gene
A gene is dominant if it is expressed when heterozygous but its allele is not, e.g. in
the Lewis system the Le gene is dominant (expressed in
both Le Le and Le ee genotypes) and the ee gene is recessive.
Functional genes
Genes that produce proteins, e.g., blood group genes that produce antigens.
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Gamete
A reproductive sex cell (ovum or sperm) with the haploid number (23) of
chromosomes that results from meiosis.
Gene
A segment of a DNA molecule that codes for the synthesis of a single polypeptide.
Gene flow
Changes in gene frequencies that occur over long periods of time due to
migration in which different populations interbreed. An example is the transfer
of genes between racial groups, e.g., the "white" genes of the Duffy blood group
system (Fya Fyb) have an increased frequency in U.S. blacks compared to African
blacks.
Gene interaction
The situation in which genes inherited at different loci interact to produce red cell
phenotypes, e.g., Le ee genes interact with Hh and Se se genes to produce the
various Lewis red cell phenotypes.
Genome
Term used to denote the entire DNA sequence (gene content) of a gamete,
person, population, or species.
Genotype
All of the alleles present at the locus (or closely linked loci) of a blood group
system, indicating chromosomal alignment if appropriate, e.g., AO in the ABO
BGS, CDe/cde in the Rh BGS, or MS/Ns in the MNSs BGS. Genotypes are
indicated by superscripts, underlining, or italics.
Haploid number of chromosomes
The number of chromosomes found in sex cells, which in humans is 23.
Hardy-Weinberg law
A law developed in 1908 independently by George Hardy (an English
mathematician) and Wilhelm Weinberg (a German physician) that is the basis for
calculations used in population genetics. The law is described by the formula p2 +
2pg + q2 = 100%, where p is the frequency of one allele, q is the frequency of the
other, p2 and q2 are the homozygous frequencies, and 2pg is the heterozygous
frequency. The formula allows us to calculate the frequencies of genes,
phenotypes, and genotypes when the frequency of a genetic trait is known.
Harmful gene
A gene that confirms a harmful trait such that it is reduced to a level at which it is
maintained only by recurrent mutation, e.g., the gene for hemophilia A, which
has a mutation rate of 1 in 10,000.
Hemizygous
Inheritance of an X-linked gene in males, e.g. the Xga gene or the gene for
hemophilia A is said to be hemizygous in males since they have only one X
chromosome.
Heterozygous
The situation in which allelic genes are different, e.g. the Kk genotype in the Kell
BGS or the Fya Fyb genotype in the Duffy BGS.
Homologous chromosomes
A matched pair of chromosomes, one from each parent, e.g., two #6
chromosomes.
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Homozygous
The situation in which allelic genes are identical, e.g., the KK genotype or
the Fya Fya genotype.
HUGO
Acronym for Human Genome Organization, an international organization
conceived in 1988 to co-ordinate the Human Genome Project.
Human Genome Project
A worldwide project to map and sequence the human genome. The ultimate goal
is to produce the complete nucleotide sequence of every human chromosome.
(Also see HUGO.)
Immune response genes
Name given to genes that appear to be able to control whether a person is likely
or unlikely to make red cell antibodies. Help explain why some transfusion
recipients are hyper-responders (make multiple alloantibodies) and others, even
when transfused with a very immunogenic antigen like D from the Rh system,
never produce antibodies. (About 30% of D-negative people appear incapable of
making anti-D.) The genes that regulate the immune response may be linked to
the genes of the major histocompatibility complex (MHC) or may be the MHC
genes themselves.
Index case
See proband.
Karyotype
A photomicrograph (photograph taken through a microscope) of all the
chromosomes in a person, arranged in standard classification (from #1
chromosomes through to the sex chromosomes).
Linkage
Genes are linked if they are on the same chromosome within a measurable
distance of each other and are normally inherited together, e.g., Lutheran and
Secretor genes are linked as are the Dd, Cc, Ee subloci in the Rh BGS.
Locus
The location of allelic genes on the chromosome, e.g., A, B, and O genes occur at
the ABO locus. (.eurae = eoci)
Lyon hypothesis
The hypothesis proposed by Mary Lyon in 1961-2 that in the somatic cells of
females one X chromosome is inactivated and becomes a Barr body. Because the
process is random, which X is inactivated is due to chance; once inactivated,
however, all of a cell's descendants will have the same inactive X. The hypothesis
explains how males with only a single dose of an X-linked gene can have the same
amount of genetic product as females with a double dose of the X-linked gene.
Mapping of genes
A variety of processes that include discovering that a gene is linked to another
gene (which can serve as a marker for it), assigning genes to particular
chromosomes, assigning genes to specific regions on chromosomes, and
determining nucleotide sequences on chromosomes.
Meiosis
The type of cell division that occurs in sex cells by which gametes having the
haploid number of chromosomes are produced from diploid cells.
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Messenger RNA (mRNA)
Type of RNA polymerase using DNA as a template. Contains the codons that
encompass the genetic codes to be translated into protein.
Mitosis
Cell division that results in the formation of two cells, each with the same number
of chromosomes as the parent cells, i.e., cell division that forms all new cells
except sex cells.
Modifying gene
A regulatory gene (usually at a different locus than blood group genes) that in
some way alters the expression of the blood group genes. Also called suppressor
genes.
Monozygotic twins
Twins derived from a single fertilized ovum, i.e., identical twins.
Mutation
A permanent inheritable change in a single gene (point mutation) that results in
the existence of two or more alleles occurring at the same locus. Blood group
polymorphism has been caused by mutations occurring over long periods of time.
Nondisjunction
The failure of two members of a chromosome pair to disjoin during anaphase.
For example, an offspring with the AB/O genotype can be produced if a group AB
male mates with a group O female and nondisjunction happens in the father.
Northern blot
A blotting method used to analyze and detect RNA by using a DNA probe that will
hybridize with its complementary RNA strand. Named for its similarity to the
Southern blot used to analyze DNA.
Nucleic acids
Polymers of phosphorylated nucleosides, the building blocks of DNA and RNA.
Nucleoside
The building blocks of RNA and DNA. Compounds consisting of a purine
(adenine or guanine) or pyrimidine (thymine or cytosine) attached to ribose (in
RNA) or deoxyribose (in DNA) at the 11 carbon.
Nucleoside analogue
Synthetic nucleosides that are similar to nucleosides but differ at a key location.
When incorporated into DNA, they terminate DNA chains and thus are useful as
antiviral drugs. Examples are zidovudine (azidothymidine or AZT) and
dideoxyinosine (ddI) used to treat AIDS.
Operator
A short sequence of nucleotides that controls the adjacent structural (functional)
genes.
Operon
A postulated unit of gene action that consists of an operator and the closely
linked functional genes it controls.
PCR
See poeymerase chain reaction.
Pedigree
A diagram representing a family tree.
Phenotype
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The antigens (traits) that result from those genes that are directly expressed (can
be directly antigen typed), e.g., group A in the ABO BGS or D+C+E- c+e+ in the
Rh BGS.
Plasmid
Extrachromosomal circular DNA in bacteria. Plasmids can independently
replicate and encode a product for drug resistance or some other advantage. Used
in molecular genetics as vectors for cloned segments of DNA.
Polymerase chain reaction
An in vitro method of amplifying DNA sequences hundreds of millions to billions
of times in a few hours. Developed in 1984-1985 by Mullis, Saiki, et al.
Polymorphism
The existence of two or more different phenotypes resulting from two or more
alleles, each with an appreciable frequency. Most blood group systems are
polymorphic.
Polypeptides
Polymers of amino acids that form the building blocks of proteins.
Population genetics
The branch of genetics that deals with how genes are distributed in populations
and how gene and genotype frequencies stay constant or change. Calculations are
based on the Hardy-Weinberg law.
Proband
The family member whose phenotype leads to a family study. Also called an index
case.
Proposita
A female proband.
Propositus
A male proband.
Recessive
Genes are recessive if the phenotype that they code for is only expressed when the
genes are homozygous, e.g., ee ee genes, in the Lewis system or h h genes in the
ABO BGS.
Recombinant
A person who has a new combination of genes not found together on the
chromosome in either parent, e.g., an MS/Ns offspring whose parents
are Ms/NS and MS/MS. A recombinant results from crossing over in one parent.
Recombinant DNA
In molecular genetics, artificially made DNA composed of fragments of DNA
from different chromosomes (often from different species) that have been joined
together (spliced) by genetic engineering. For example, healthcare workers are
routinely vaccinated with a recombinant hepatitis B vaccine made by inserting a
piece of the hepatitis B virus genome (the part that codes for the HBsAg) into
yeast cells via a plasmid. The yeast cells then produce a large amount of HBsAg,
which is purified into the vaccine and stimulates the production of protective
anti-HBs antibodies.
Regulatory genes
In the operon model, genes that inhibit an operator gene so that it prevents its
functional genes from producing proteins.
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Restriction endonucleases
DNA enzymes of bacterial origin that can cleave DNA at internal positions on a
strand because they recognize specific sequences (usually 4-6 base pairs). The
enzymes evolved in bacteria as defenses against the invasion of foreign DNA in
the form of viruses or plasmids and are used in molecular genetics to chop up
DNA at particular locations.
Restriction fragment length polymorphisms (RFLP)
Regions of DNA of varying lengths that can be cut out of DNA by restriction
endonucleases. Because the fragment lengths vary among individuals, they are
polymorphic and can be used as genetic markers.
Reverse transcriptase
An RNA-dependent DNA polymerase that synthesizes DNA from an RNA
template. Used by retroviruses like the human immunodeficiency virus (HIV) to
make proviral DNA from its RNA genome.
RFLP
See restriction fragment eength poeymorphism.
Ribosomal RNA (rRNA)
Type of RNA found in ribosomes, the site of protein synthesis in the cytoplasm.
Ribosomes
Complexes of rRNA and protein in cytoplasm that serve as platforms for
translation for mRNA into protein.
RNA
Ribonucleic acid. Nucleic acids that are formed using DNA as a template. Similar
to DNA except has ribose in place of deoxyribose and uracil in place of thymine.
(Also see messenger RNA, ribosomae RNA, and transfer RNA.)
Sex chromosomes
The chromosomes that determine sex. XX in females and XY in males.
Sex-linked
An outdated term for genes on the X chromosome. Historically synonymous for
X-linked since, apart from genes essential for male sex determination, the Y
chromosome appears to have few recognized gene loci.
Somatic chromosome
A non-sex chromosome (soma=body). Synonym is autosome.
Southern blot
A blotting method developed in 1975 by E.M. Southern that detects restriction
enzyme-cleaved DNA by use of a labelled DNA probe that will hybridize with its
complementary DNA strand.
Structural genes
See functionae genes.
Suppressor genes
See regueatory genes.
Syntenic
Genes are on the same chromosome but are not close enough for linkage to be
demonstrated.
Transcription
Synthesis of single-stranded RNA by RNA polymerase using DNA as a template.
The process in the nucleus whereby DNA is transcribed into mRNA.
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Transfer RNA (tRNA)
Type of RNA that facilitates translation of mRNA into protein. Contains
anticodons that provide the molecular link between the codons of mRNA and the
amino acid sequences of proteins.
Transient polymorphism
A temporary polymorphism in which an allele (harmful gene) is disappearing or
an allele (beneficial gene) is increasing in frequency.
Translation
The process of translating the codon sequence in mRNA into polypeptides with
the help of tRNA and ribosomes.
Trans position
Genes in the trans position are on opposite chromosomes of a pair of homologous
chromosomes. In the genotype CDe/cde, for example, D and c genes are in the
trans position.
Western blot
An assay used to separate viral (and other) antigens and to identify
corresponding antibodies to the viral antigens. For example, the western blot is a
relatively specific and sensitive test for antibodies to HIV that is used as a
confirmatory test for sera that are repeatedly reactive by EIA (enzyme
immunoassay) screening tests. Named western blot as a joke due to its similarity
to the Southern blot and since its discoverers worked in the western USA.
X-chromosome
The sex chromosome present in double dose in females (XX) and in single dose in
males (XY).
X-linked
Genes on the X chromosome, e.g., genes for hemophilia A, hemophilia B, and
Xga blood group genes.
Y-chromosome
The sex chromosome present only in males (XY).