CLASS XII

Session: 2020-21 (19.05.2021)

Principles of Inheritance and Variation

M T RAJU
PGT BIO
EOIS,MOSCOW
Seven characters
studied by
G.J.Mendel
Monohybrid Cross: Tall X Dwarf

Tall
-----
Monohybrid Cross: Yellow X Green
LAWS OF INHERITANCE: First Law

Law of Dominance
(i) Characters are controlled by
discrete units called factors.
(ii) Factors occur in pairs.
(iii) In a dissimilar pair of factors,
one member of the pair dominates
(dominant) the other (recessive).
 LAWS OF INHERITANCE: Second Law
Law of Segregation
The recessive characters are only expressed in
homozygous conditions. The characters never
blend in heterozygous condition. A recessive
character that was not expressed in
heterozygous condition may be expressed
again when it becomes homozygous. Hence,
characters segregate while formation of
gametes .
Binomial expression of Monohybrid Cross

a=1/2, b=1/2
X= T
Y=t
 TEST CROSS
To determine the genotype of a tall plant
at F2, Mendel crossed the tall plant from
F2 with a dwarf plant. This he called a
test cross. In a typical test cross an
organism (pea plants here) showing a
dominant phenotype (and whose
genotype is to be determined) is crossed
with the recessive parent instead of self-
crossing. The progenies of such a cross
can easily be analyzed to predict the
genotype of the test organism.
TEST CROSS
Exceptions to
Law of
Dominance
Incomplete
Dominance
Exceptions to
Law of
Dominance
Incomplete
Dominance
Exceptions to Law of Dominance
Co-dominance
 RRyy X rrYY
round wrinkle
green yellow
RrYy
Chromosomal theory of Inheritance
Chromosomal theory of Inheritance
Chromosomal theory of Inheritance
Chromosomal theory of Inheritance
 Chromosomal theory of Inheritance
(Experimental verification by T.H MORGAN)

•Drosophila melanogaster(fruitfly)
•They could be grown on simple synthetic medium
•They complete their life cycle in about two weeks
•Single mating could produce a large number of
progeny flies.
•There was a clear differentiation of the sexes –
male and female flies are easily distinguishable.
•Has many types of hereditary variations that can
be seen with low power microscope.
 LINKAGE AND RECOMBINATION
•Genetic linkage describes the way in which two
genes that are located close to each other on a
chromosome are often inherited together.
•Physical association of genes present on the same
chromosome causes the genes inherit together and
phenomenon is known as “linkage”.
•“Recombination” is the generation of non-
parental gene combinations of genes present on
the same chromosome.
 LINKAGE
AND
RECOMBINATION
 LINKAGE AND RECOMBINATION
YELLOW BODY(Y) BROWN BODY(Y+)
WHITE EYE(W) RED EYE(W+)
 LINKAGE AND RECOMBINATION

Alfred Sturtevant used the frequency of

recombination between gene pairs on the same
chromosome as a measure of the distance
between genes and ‘mapped’ their position on the
chromosome.
 LINKAGE AND RECOMBINATION

Frequency of recombination is directly proportional to

the distance between genes.

Frequency Distance
of α between
Recombination genes
 RY
RY RRYYY
Tt X Tt
RRYY X RrYy Ry RRYy
rY RrYY
ry RrYy
Sex Determination
MALE HETEROGAMETY

FEMALE HETEROGAMETY
Mutation is a phenomenon which results in
alteration of DNA sequences and consequently
results in changes in the genotype and the
phenotype of an organism.
>Point Mutation
>Frame shift Mutation

There are many chemical and physical factors that

induce mutations. These are referred to as
mutagens. UV radiations can cause mutations in
organisms – it is a mutagen.
 PEDIGREE
ANALYSIS:
An analysis of
traits in a several
of generations of
a family is called
the pedigree
analysis.
Autosomal Dominant Trait
Autosomal Recessive Trait
Genetic Disorders
1. Mendelian Disorders: Haemophilia, Cystic fibrosis,
Sicklecell anaemia, Colour blindness, Phenylketonuria,
Thalassemia.

2. Chromosomal Disorders: Down’s syndrome, Klinefelter’s

syndrome, Turner’s Syndrome

XY – Normal male (1/2 = 50%)

XhY – Haemophilic male (1/2 = 50%)

XX – Normal Female(1/3 =33.3%)

XhX – Carrier Female (1/3 =33.3%)
XhXh – Haemophilic Female (1/3 =33.3%)
 h
XY X XX
h
XX , X X: 100% free from Haemophilia
(but 50% are carriers)
h
X Y , XY: 50% Free fro Haemophilia and
50 % are Haemophilic
 Sickle-cell anaemia
( autosome linked recessive trait)
 Phenylketonuria
(autosome linked recessive trait)
 Chromosomal Disorders
Aneuploidy: Failure of segregation of chromatids
during cell division cycle results in the gain or loss
of a chromosome(s), called aneuploidy.
Polyploidy: Failure of cytokinesis after telophase
stage of cell division results in an increase in a
whole set of chromosomes in an organism and this
phenomenon is known as polyploidy.
MOLECULAR BASIS OF
INHERITANCE
RECAP FROM CLASS XI
RECAP FROM CLASS - XI
 RIBOSE SUGAR AND
DEOXY RIBOSE SUGAR
DOUBLE HELIX
1
DOUBLE HELIX
CENTRAL DOGMA OF
MOLECULAR BIOLOGY
Packaging of DNA Molecule
Packaging of DNA Molecule
Packaging of DNA Molecule
Packaging
of DNA
Molecule
Nucleosome
Nucleosome
BEADS-ON-STRING
Frederick Griffith
Griffith’s Experiment: Transforming
Principle (1928)
Bio chemical characterisation of Transforming principle by
Oswald Avery, Colin Mac Leod and Maclyn McCarty
Harshey & Chase experiment: The Genetic Material is DNA
Harshey & Chase experiment:
The Genetic Material is DNA
DNA Vs RNA
DNA Vs RNA
 Watson-Crick model for
semiconservative DNA replication
 Messelson and Stahl’s
Experiment: Experimental proof
Messelson and Stahl’s Experiment:
Experimental proof
Semiconservative DNA replication
 The Machinery and the Enzymes
•Set of catalysts (enzymes:DNA-dependent
DNA polymerase).
•Substrates(Deoxyribonucleoside triphosphates)
•Additional enzymes: DNA Ligase,
Helicase,Primase.
•Origin of replication(definite region in DNA
where the replication originates)
REPLICATING FORK
Replicating Fork
Why both the strands are not copied
during transcription?
 TRANSCRIPTION
A transcription unit in DNA is defined primarily by
the three regions in the DNA:

(i) A Promoter
(ii) The Structural gene
(iii) A Terminator
TRANSCRIPTION
TRANSCRIPTION
SCHEMATIC DIAGRAM OF
TRANSCRIPTION UNIT
TRANSCRIPTION INPROKARYOTES:
BACTERIA
TRANSCRIPTION IN EUKARYOTES
ANSWER THE QUESTIONS
Justify
CODON IS A TRIPLET
tRNA : An adapter molecule
t RNA MOLECULE
TRANSLATION
TRANSLATION
 TRANSLATION

5’ UTR-----START CODON----mRNA----------STOP CODON…UTR 3’

DNA MOLECULE
DNA REPLICATION
TRANSLATION
TRANSCRIPTION AND TRANSLATION
 The lac Operon
Operon: A functionally integrated genetic
unit for the control of gene expression in
bacteria as proposed in the Jacob-Monod
hypothesis.
Ex. lac operon, trp operon, ara operon, his
operon, val operon ( Lactose, Tryptophan,
Arabinose, histidine, valine)

Lactose ---β- galactosidase---- > Galactose

+ Glucose
Regulation of lac operon by repressor is
referred to as negative regulation
 Human Genome Project
Why Mega Project:
• 3X109 bp X US Ṩ3 PER BP = 9
BILOLION us dollars - cost
• 1000 letters per page X 1000
pages ---- > 3300 books for storage
• High speed computations devices
for data storage and retrieval, and
analysis.
Goals of Human Genome Project
 Salient
features
of
Human
Genome
Project
 Applications and Future
Challenges of HGP
• Understanding of biological systems
• New approach to biological research
• Understanding disorders
• Control of Cancer
• Health care