Unit 1
Unit 1
Unit 1
Mendelian Inheritance :
beginning of genetics, early concepts of inheritance,
Mendel’s laws; Discussion on Mendel’s paper,
Chromosomal theory of inheritance,
multiple alleles,
Gene interactions,
Sex determination, differentiation and sex-linkage, Sex-
influenced and sex-limited traits,
Linkage detection, estimation;
Recombination and genetic mapping in eukaryotes, Somatic
cell genetics, extra chromosomal inheritance
GENETICS
1. Preformation Theory
2. Theory of Epigenesis
3. Theory of Acquired Characters
4. Theory of Pangenes
5. Germplasm Theory
Post mendelian concepts of heredity
The foundation of the genetics was laid by Gregor Johann Mendel in 1866,
when the he discovered the basic principles of heredity.
The Mendel’s findings came into light in 1900 when similar results were
independently observed by three scientists viz., de Vries (Holland),
Correns (Germany) and Tschermak (Austria).
1. Mutation Theory
2. Chromosomal Theory of Inheritance
3. Hardy-Weinberg law
4. Multiple factor hypothesis
5. Linkage Theory
6. One gene one enzyme hypothesis
7. Operon hypothesis
8. Wobble hypothesis
9. Lyon’s hypothesis
9. Lyons Hypothesis
Proposed by Lyon in 1969, which states that in a normal female only one
X-chromosome is active which is invisible at interphase. The other X-
chromosome remains in active, takes dark stain and become visible in
interphase nucleus. In other words, an individual may have any number
of X-chromosomes, but only one remains active and others become
inactive. The number of inactive chromosomes is represented by the
number of sex chromatin bodies.
Lecture 1: Mendel’s Laws
I. Monohybrid Cross
II. Mendel Law I
III. Dihybrid Cross
IV. Test Cross
V. Mendel Law II
BASIC TERMINOLOGIES
Gene
Alleles
Gamete
Contrasting characters
Dominant and Recessive
Homozygous and Heterozygous
Monohybrid , Dihybrid and Polyhybrid Cross
Direct and Reciprocal Cross
Backcross and Test Cross
Phenotype and Genotype
Gene
The gene is considered the basic unit of
inheritance. Genes are passed from parents to
offspring and contain the information needed to
specify physical and biological traits.
1822-1884
HISTORY OF GREGOR JOHANN MENDEL
“When two pairs of gene enter in F1 combination, both of them have their
independent dominant effect. These genes segregate when gametes are
formed , but the assortment occurs randomly and quite freely.”
Reasons For Mendel’s Success
3. Choice of material
4. Maintenance of purity
6. Mathematical background
F1 Rr
pink flower
F2
1 Red (Rr) :2 Pink (RR): 1 White (rr)
Incomplete dominance in flowers of Mirabilis jalapa
Codominance
In case of codominance both alleles express their phenotypes in
heterozygote greater than an intermediate one. The example is AB
blood group in human. The people who have blood type AB are
heterozygous exhibiting phenotypes for both the IA and IB alleles.
In other words, heterozygotes for codominant alleles are
phenotypically similar to both parental types. The main difference
between codominance and incomplete dominance lies in the way
in which genes act.
In case of codominance both alleles are active while in case of
incomplete dominance both alleles blend to make an intermediate
one.
Codominance - both genes fully expressed
Lethal genes
Gene, which causes the death of its carrier when in homozygous condition is called lethal
gene.
In mice allele for yellow coat colour is dominant over grey. When a cross is made
between yellow and grey a ratio of 1:1 for yellow and gray mice was observed. This indicated
that yellow mice are always heterozygous. Because yellow homozygotes are never born
because of homozygous lethality. Such genes were not observed by Mendel. He always got
3:1 ratio in F2 for single gene characters.
Lethal genes can be recessive, as in the aforementioned mouse experiments. Lethal genes can
also be dominant, conditional, semilethal, or synthetic, depending on the gene or genes
involved.
CHROMOSOMES
Discovered by- Eduard Adolf Strasburger German cytologist in 1875.
3. The nuclei of most eukaryotic cells contain chromosomes that are found
in homologous pairs
" During meiosis, each homologue segregates into one of the two
daughter nuclei”
Characterstics:
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Sex determination, 3 main mechanisms:
1. Chromosomal sex determination
Y chromosome
X chromosome
XO-XX Grasshopper XO XX F M
ZW-ZZ Birds,Butterflies ZZ ZW M F
XO-XX Fumea XX XO M F
During Meiosis . . .
The X and Y chromosomes behave as a homologous pair.
XY = (draw in chromosomes)
XO “Turner Syndrome”
Female abnormal
Sterile
1/10,000 (most XO fetuses die before birth).
Survivors show below average height, poorly developed breasts, and immature sexual
organs
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PATTERNS OF SEX MOSAIC IN
DROSOPHILA
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Sex Reversal
Transformation of one sex into
another is known as sex reversal.
I. Location
II. Number
III. Expression
V. Pattern of segregation
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Halogenic : inheritance from female to female
109
Secondary Non-junction
EXAMPLES OF SEX LINKED CHARACTERS
Haemophilia
HUMANS
Colour Blindness
2) incomplete sex-linked –
In humans, these are termed X-linked recessive, X-linked dominant and Y-linked.
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Y-linked: Various failures in the SRY genes
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Inheritance of Colorblindness
A heterozygous female has normal
color vision. Sons get their only X
from their mother. So, ½ of the sons
of a heterozygous mother are
colorblind, and ½ are normal.
A colorblind male will give his X to
his daughters only. If the mother is
homozygous normal, all of the
children will be normal. However,
the daughters will heterozygous
carriers of the trait, and ½ of their
sons will be colorblind.
In this example:
the mother is a
carrier of the
colorblind gene.
There is a 50%
chance her son will
be colorblind but
unless the father is
colorblind the
daughter cannot end
up colorblind.
Fig.Identification of Colorblindness
2. HEMOPHILIA
Hemophilia is the X linked recessive genetic disorder. It is more common
in men than in women.
Blood normally clots during injuries within 5 to 10 minutes, depending
on the magnitude of the injury.
In hemophilia individuals the normal process of blood clotting is delayed
or sometimes blood fails to clot.
So blood bleeds continuously leading to the loss of blood, causing even
death. It is also called bleeder’s disease.
Females have the possibility of being heterozygous for hemophilia. This
makes them a carrier.
Hemophilia is a blood disorder where the blood does not clot
properly.bleeding from even minor cuts .
In this example:
The father has
hemophilia. He cannot
give his son hemophilia
because he gives his son
the Y chromosome.
He can give his daughter
the recessive gene, but if
her mother does not give
her the recessive gene,
she will not have
hemophilia. She will be a
carrier.
In this example:
The mother is a carrier of
hemophilia.
She does not have
hemophilia but she is
heterozygous for the trait.
There is a 50% chance her
son will have hemophilia.
Hemophilia-Govern by recessive
alllele
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sex-influenced traits
A sex-influenced trait is an autosomal trait that is dominant in one sex and
recessive in the other.
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Sex-Limited Trait
A sex-limited trait is expressed in one sex but not the other. This is
usually due to anatomical or physiological limitations.
Sex- limited traits may be autosomal or X linked.
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140
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Sex-influenced characteristics are encoded
by autosomal genes that are more readily
expressed in one sex.
a. Complete linkage
b. Incomplete linkage
c. Coupling linkage
d. Repulsion Linkage
e. Autosomal linkage
f. X-chromosomal linkage
Based on crossing over
Based on genes involved
PHASES OF LINKAGE
If there is complete dominance at each locus and no epistasis, the segregation ratio of
the progeny will be 9:3:3:1.
Presence of linkage either in coupling or repulsion phase will lead to significant deviation
from 9:3:3 :1 ratio.
The deviation of observed values from the expected ratio is tested with the help of X2
test
Significance of linkage
1. Linkage limits the variability among the individuals.
2. Linkage between two or more loci controlling different desirable characters is
advantageous for a plant breeder.A linkage between genes controlling two different
desirable characters will help in simultaneous improvement of both the characters.
3. Linkage is undesirable when desirable and undesirable genes are linked together.
4. The estimates of genetic variances for quantitative characters are greatly influenced by
the presence of linkage
5. Linked genes can be mapped on a chromosome by studying how often their alleles
recombine.
Characteristic features of Linkage
1. Linkage involves two or more genes which are located in same chromosome in a linear
fashion.
2. Linkage reduces variability.
3. Linkage may involve either dominant or recessive alleles (coupling phase) or some
dominant and some recessive alleles (repulsion phase) .
4. It may involve either all desirable traits or all undesirable traits or some desirable and some
undesirable traits.
5. It is observed for oligogenic traits as well as polygenic traits.
6. Linkage usually involves those genes which are located close to each other.
7. The strength of linkage inversely depends on the distance.
8. Presence of linkage leads to higher frequency of parental types than recombinants in test
cross. When two genes are linked the segregation ratio of dihybrid test cross progeny
deviates significantly from 1:1:1:1 ratio.
9. Linkage can be determined from test cross progeny data.
10. If crossing over does not occur, all genes located on one chromosome are expected to be
inherited together.Thus the maximum number of linkage groups possible in an organism is
equal to the haploid chromosome number.
Examples - Onion 2n = 16 n = 8 maximum linkage groups possible = 8
Maize 2n = 20 n = 1o maximum linkage groups possible = 10
11.Linkage can be broken by repeated intermating of randomly selected plants in segregating
population for several generations or by mutagenic treatment
Linkage and Pleiotropy
A close association between two or more characters may result either due to linkage or pleiotropy
or both.
Pleiotropy refers to the control of two or more characters by a single gene.
A tight linkage between two loci can be often confused with pleiotropy .
The only way to distinguish between linkage and pleiotropy is to find out a crossover product
between linked characters.
lntermating in segregating populations may break a tight linkage, but a huge population has to be
raised to find out the crossover product.
If a cross over product is not found in spite of repeated intermatings there seems to be the case of
pleiotropy rather than linkage.
Q. The tendency of the genes located on the
same chromosome, to stay together in
hereditary transmission, is known as;
a. Linkage
b. Crossing over
c. Sex determination
d. None of these
Q. ……………….proposed chromosomal theory of
linkage;
a. Morgan and Castle
b. Muller
c. Mendel
d. Bateson
Q. Dominant alleles present on the same
chromosome and recessive alleles present on
same chromosomes shows;
a. Coupling phase
b. Repulsion phase
c. Recessive phase
d. None of these
CROSSING OVER
Crossing over refers to the interchange of parts between
non-sister chromatids of homologus chromosomes during
meiotic prophase (pachytene).
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Chiasma was first discovered by Janssens 1909.
1 Classical theory
First chiasma is form and then crossing over takes place.
Crossing over is result of chiasma formation.
In this case 1:1 ratio is not found between chiasma and crossing
over.
Because chiasma may not lead to brekage and subsequent genetic
crossing over.
2 Chiasma type theory
Proposed by Janssens and later on elaborated by Bellings and
Darlington.
First crossing over occurs and then chiasma is formed.
In this case 1:1 ratio is found between crossing over and chiasma.
At present most accepted.
MOLECULAR MECHANISMS OF CROSSING OVER
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1. SINGLE CROSSING-OVER
.
1. Distance
2. Age
3. Temperature
4. Sex of an individual
5. Nutrition
6. Chemicals
7. Irradiation
8. Structural Changes
9. Centromere effect
10.Cytoplasmic Genes
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SIGNIFICANCE
Provides a direct evidence of the linear
arrangement of genes in the chromosomes.
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GENE MAPPING
INTERFERENCE
COINCIDENCE
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Somatic Cell Genetics
&
Extra Chromosomal Inheritance
Extra Chromosomal Inheritance
The transmission of characters from parents to their offspring is
governed by plasma genes which are contained in chloroplasts or
mitochondria.
It is known as cytoplasmic inheritance or extra-nuclear
inheritance or extra-chromosomal inheritance or non-mendelian
inheritance or organellar inheritance.
Cytoplasmic inheritance was first reportedby Correns in 1909 is
Mirabilis jalapa for leaf colour.
Cytoplasmic inheritance exhibit reciprocal differences, maternal
effects, non-mendelian segregation (somatic segregation) and
infection like transmission.
Presence of DNA in Chloroplasts was first demonstrated by Ris
and Plaut in 1962.
In 1963, Nass and coworkers proved the existence of DNA in
mitochondria.
Mapping of plasma genes is also difficult. Thus cytoplasmic
inheritance differs from Mendelian inheritance in several aspects.
Classes of Extra Chromosomal Inheritance
(1) Maternal effects:
I. Coiling pattern of shell in snail
II. Pigment in flour moth
(2) Inheritance due to infective particles:
I. Kappa particles in paramecium
II. Sigma particle in Drosophila
(3) cytoplasmic inheritance:
I. Plastid inheritance- Mirabilis jalapa, Oenothera, Iojap in
maize, zebrina.
II. Mitochondrial inheritance- CMS, Pokyness in
Neurospora, Petite yeast and chlamydomonas.
Coiling pattern of shell in snail
Pigment in flour moth
Kappa particles in paramecium
Sonnebern discovered Kappa particles in paramecium in 1943.
Plastid Inheritance in Mirabilis
jalapa
Leaves of Mirabilis jalapa, the four o’
clock
plant, may be green, white or
variegated.
Some branches may have only green,
only white or only variegated leaves.
Correns made crosses in all
combinations among the flowers
produced on these three types of
branches.
Leaf phenotype Leaf phenotype Leaf phenotype
of the branch of the branch of
used as female used as male the progeny
parent parent
Green Green Green
Green White Green
Green Variegated Green
White Green White
White White White
White Variegated White
Variegated Green Green , white
and variegated
Variegated White in variable
Variegated Variegated ratios in each of
the cases
Iojap Inheritance in Maize
In 1924, Jenkins described iojap leaf
variegation in maize which was later
investigated in considerable details by
Rhoades.