PRINCIPLES PF INHERITNCE AND

VARIATION
A
N
C
E/ (TRANSFER OF
H
E
CHARACTERS
FROM PARENTS GEN
R
E
OT PROGENY)
ETIC
DI
T
S
Y (STUD
Y OF
CHANGES IN PRINC
V
A
CHARACTERS
PASSES CUE TO IPLES
RI
MEIOSIS /
CROSSING )
A OVER OF
CHROMOSOM
TI ES
O
N
 PAST HISTORY OF GENETICS
SCIENTIST THEORY

HIPPOCRATES PANGENESIS (SEEDS PASS THROUGH

SEXUAL INTERCOURSE)

ARISTOTLE MIXING OF BLOOD

CHARLES DARWIN SURVIVAL OF FITTEST

KOLREUTER USED TOBACCO FOR SAME EXPERIMENTS

AS MENDEL , BUT USED BLENDING
CHARACTERS INSTEAD OF CONTRASTING
 GREGOR JOHANN MENDEL (1822-
1884)
• Born in Czechoslovakia
• Conducted experiments in the garden of his
church from 1856-1863
• Plant used – garden pea plant /Pisum sativum
 WHY PEA PLANT???
• Shows many contrasting characters(Dominant
and recessive)
• Short life span (2-3 months)
• Bisexual
• Small and annual plant
• Self pollination
• Artificial pollination possible and lead to fertile
hybrid
CONTRASTING TRAITS(3 colours, 2 shapes)
 Method of study
 PARENTS – true breeding ( continuous self
pollinated , showing stable trait inheritance
for several generations )\
 HYBRIDIZATION FOR EACH TRAIT –
1)Emasulation ( removal of anther)
bagging
2) Pollination ( transfer of pollen by dusting)
TAGGING
Crosses and collection of seeds
 F1/ filial progeny
Showed dominant trait of one parent only

SELF POLLINATION OF FIRST GENERATION –

 F2 progeny –
Some plants showed traits which were not seen in F1
CONCLUSION – SOME FACTORS ARE BEING TRANSFERRED
 SOME TERMS
• Genes – factors, units of inheritance
• Alleles – contrasting traits in a gene
• Homozygous – identical allelic pairs (TT, tt)
• Heterozygous – opposite allelic pairs (Tt )
• Phenotype - physical appearance
• Genotype – genetic combination
• Dominant – factor expressed in F1
• Recessive – Other Factor
• Monhybrid cross- cross to study one
character
• Dihybrid – two characterd
• Punnet Square – graphical representation to
calculate probability of all possible genotypes
of offspring in a genetic cross
Monohybrid cross ( one character)
• PARENTS Tall (TT) x dwarf (tt)
• GAMETES T ,T t , t
• F1 T T
t Tt Tt
t Tt Tt
• PHENOTYPE Tall (dominant)
• GENOTYPE Tt (heterozygous)
 F2 generation
• PARENTS Tall (Tt) x tall (Tt)
• GAMETES T ,t T, t
• F2 T t
T TT Tt
t Tt tt
• PHENOTYPE Tall : dwarf 3: 1
• GENOTYPE TT : Tt : tt 1 : 2: 1
• Law of Dominance
- Factors
- In pairs
- -in dissimilar pairs, one is dominant and other
recessive
Law of Segregation
- Alleles do not show blending and both
characters are recovered
 INCOMPLETE DOMNIANCE
• God flower / snapdragon / Antirrhinum sp
Parent Red (RR ) x white(rr)\
F1 – pink (Rr)

F2 – Red : pink : white = 1:2: 1

Caues –
Non functional enzyme or no enezyme
Pea plant – starch sysnthesis BB round,Bb medium size
,bb wrinkled
CO-DOMNIANCE/multiple alleles
Human blood groups
Gene 3 allels- IA, IB I
DIHYBRID CROSS

• Phenotype
• Round yellow :
round green :
wrinkled yellow :
wrinkled green =
• 9:3:3:1
• Genotype 1:2:1:
2:4:2:1:2:1
 Law of independent assortment
• Mendel
• When two pairs of traits are combined in a
hybrid , a seggragetion of one pair of
chromosomes is indeppendent of the other
pair of characters
 IMPORTANT CROSSES AND RATIO

Parental cross AA X aa Aa F1 = All domniant

Heterozygous X Aa X Aa F2 generation 9:3:3:1

heterozygous

Test cross(F1 wth Aa X aa Aa :aa 1:1 , equal

recessive parent) domniant and
recessive

Back cross (F1 with Aa X AA AA, Aa All dominant

dominant)

Test cross for RrYy X rryy 1:1:1:1

dihybrid
 CHROMOSOMAL THEORY OF
INHERITANCE
• Sutton and Boveri
• chromosomes occur in pair in diploid cell
• In gamete, one chromosome, with one allele
• Combined knowledge of chromosomal
segregation and Mendelian principles
 Thomas Hunt Morgan
• Proved the chromosomal theory of
inheritance
• Drosophila melanogaster / fruit fly
• Life cycle 2 weeks
• Single mating it gives large number of
offsprings
• Male and female are distniguishable
 Linkage and Recombination
• Parental type > Recombinant
• Linkage is inversely related to distance
between genes.

• Crossing over occurs in non-sister chromatids

of homologous cchromosomes
• Frequency of Crossing over < or = 50%
 TERMS
• POLYGENEIC INHERITANCE – 3 or more genes
for same character

• Pleiotropy –
• Single gene exhibits multiple phenotypes
• E.g. Mutation in phenylketonuria
 CHROMOSOMES

Autosomes

• 22 pairs

Sex chromosomes /allosomes

• 1 pair, female XX, males XY

 SEX DETERMINATION
• First observed by Henking
SPECIES FEMALE MALE SEX DETERMINED
Male BY
heterogamy
Human XX XY Male

Drosophilia, XX XO Male
grasshopper

Birds ZW ZZ Female

Female
heterogamy
SEX DETERMINATION IN HONEY BEE
– Queen / worker
– Sperm + ovum
– 32 chromosomes

– Male drone
– Unfertilized egg by parthenogenesis
– 16 chromosomes
– Sterile
– HAPLOIDIPLOID SEX DETERMINATION
 MUTATION
• Mutation – alteration of DNA sequence
• Mutagen – chemical and physical factors
which induce mutation
• E.g. UV rays, Colchicine
 Types of mutation

Gene/point •Single base pair of DNA

•Sickle cell anaemia
mutation

Chromosom •Structure or number of

al mutation chromosome
TYPES OF GENETIC DISORDERS

CHROMOSOMAL
MENDELIAN DISORDER
DISORDER ( CHANGE IN
(MUTATION OF NUMBER OR
SINGLE GENE) STRUCTURE OF
Follow law of CHROMOSOME
inheritance DUE TO NON-
DYSJUNCTION)
PEDIGREE ANALYSIS
 COLOUR BLINDNESS
X LINKED RECESSIVE
MOTHER FATHER

CARRIER NORMAL
X’X XY
SONS X’Y or XY 50% AFFECTED

DAUGHTER X’X OR XX 50% CARRIER

MOTHER FATHER

NORMAL COLOURBLIND
XX X’Y
SONS XY or XY NORMAL

DAUGHTER X’X OR XX 50% CARRIER

 Haemophilia /Queen victoria/ Royal disease/
Bleeders disease
X linked recessive

MOTHER FATHER

CARRIER NORMAL
X’X XY
SONS X’Y or XY 25% haemophilic,
25%normal
DAUGHTER X’X OR XX 25% CARRIER
25 % normal

MOTHER FATHER

NORMAL CARRIER
XX X’Y
SONS X’Y haemophilic

DAUGHTER X’X OR XX 25% CARRIER

25 % normal
 TYPES OF HAEMOPHILIA
HAEMOPHILIA FACTORS

A VIII

B / Christmas’ disease IX
 SICKLE CELL ANEMIA
• Autosomal linked recessive
• RBC shape is damaged
• Allele – HbA, HbB, Hbs
• By substitution of glutamic acid by Valine in 6th
position of beta chain of haemoglobin
• Codon changes from GAG TO GUG
• Helpful against malaria , so not removed in Africa
 Phenylketonuria
• Autosomal recessive
• Lacks enzyme phenyl alanine hydroxylase
• Problem in conversionof penyalanine to
tyrosine
• Phenylpyruvic acid
• Mental retardation
• Hair loss
• Skin pigmentation
 THALASSEMIA
• Autosme linked recessive
• From heterozygous carrier parents
• Reduce chains of haemoglobin
• Alpha thalassemia – HBA1 and HBA2 on
chromosome 16
• Beta thalassemia – HBB in chromosome 11
 CHROMOSOMAL DISORDERS
Euploidy Entire set 2n

Polyploidy Addition of entire set of 3n banana,

chromosomes 6n wheat

Aneuploidy Loss or gain of one or

more chromosomes

monosomy 2n-1

trisomy 20+1
 Autosomal disorders
DOWN’S SYNDROME Trisomy of 21st Mental retardation, round
chromosome head, palm crease
EDWARD’S SYDROME Trisomy of 18

PATAU’S SYNDROME Trisomy of 13

Cystic fibrosis 7, recessive

Prader will syndrome Deletion of 15

Cri-du-chat Short arm of 5

Tay-Sachs 15
 Sex chromosome abnormalities
syndrome genotype characters

KLEINFIELTER’S SYNDROME XXY Gyanecomastia /

dvelopementof breasts ,
less hair, sterile

TURNER’S SYNDROME XO Steril, rudimentary ovaries,

no secondary sexual
characters

SUPERMALE XYY

SUPERFEMALE XXX
THANKYOU!!
TIPS - GENE IS RECESSIVE OR DOMINANT??
• IS THE SON OR DAUGHTER PHENOTYPE
DIFFERENT FROM THEIR PARENTS? (recessive)
• IS THE SON OR FATHER OF DAUGHTER
HETEROZYGOUS? (autosomal)
 MOLECULAR BASIS OF
INHERITANCE
• DNA
• RNA
 DNA
• Long polymer of deoxyribonucleotides
organism Number of nucleotides

Bacteriophageφ x174 5386

Bacteriophage lambda 48502 base pairs

ESCHERICHIA COLI 4.6 x106 bp

HUMAN 3.3 x 109 bp

DEOXYRIBOSE NUCLEIC ACID
 NUCLEOTIDES PHOSPHODIESTER BOND N-GLYCOSIDIC BOND

PHOSPHA
NUCLEOSI TE
DES
MOIETY
PED NIT
NTE RG
O
ROS EN
X
I E Y OUP
BSU S
R BAY
OGA
S R I PSE R
B U TI
E
O R H MU
S I IR
i E N YDA
n CM
AEGYII C
D U NI
R i E ATN
n O EL
E
N N NS
A
D I I Iii
N N NNnn
A E EE
R
D
N
N
A
 5’ end and 3’end

• helix –right handed ,

• Distance - 34nm
• Distance between 2 adjacent basepairs 0.34nm
 CENTRAL DOGMA
• By Francis Crick
• DNA  RNA  Protein
 Human DNA
• 2.2m long
• 6.6x109 bp distance between 0.34nm x 10-9
• Multiply them
 nucleosome
• DNA (-ve charged)
• Histone (+ve charged)

• Histone is octomer

• 1 nucleosome has
• 200bp of DNA.
Formation of chromosomes
 Chromatin types

euchromatin

• Light stained, transcriptionally inactive

heterochromatin

• Dark stained, transcriptionally active

 TRASFORMING PRINCIPLE
• Frederick Griffith

• Streptococcus pneumoniae in rats

• Transfer of genetic material

 BIOCHEMICAL NATURE OF TRANSFORMING
MATERIAL
• Avery, McLeod ,McCarty

• Conclusion – DNA is genetic

• material
 Major proof of DNA
• Alfred Hershey and Martha Chase
• Bacteriophages in E. coli
• Radioactive sulphur in protien capsule
• Or radioactive phosphorus in DNA
• STEPS –
• Infection
• Blending
• centrifugation
 Criteria for genetic material
• Replication
• Chemically and structurally stable
• Scope for mutation and evolution
• Should express as Mendelian characters
 RNA
• FIRST GENETIC MATERIAL
 DNA REPLICATION
• SEMICONSERVATIVE DNA REPLIACATION

• first shown in e coli

• By Matthew Meselson and Franklin Stahl
• 15N heavy 14N light
• Everytime DNA would be lighter
• Half DNA is passed on
 Mechanism of DNA replication
• S phase
• DNA polymerase
• Starts from 3’ to 5’
• Discontinuous
strands connected
by DNA ligase
TRANSCRIPTION
TEMPLATE STRAND 3’ - 5’
Coding Strand of DNA 5’ - 3’
 TERMS
• Gene – Functional unit of inheritance
• Citron – segement of DNA coding for a
polypeptide
• Exons – sequences which appear in mature
RNA
• Introns – do not appear in mature DNA
• Transposons – genes which can transport
 Types of RNA

RNA

mRNA rRNA
tRNA (transfer)
(messenger) (ribosomal)
RNA transciption in Bacteria
RNA transcription in Eukaryotes

• Splicing
• Capping(methyl
guanine
triphosphate)
• Tailing (200-300
adenylate
residues)
 GENETIC CODE
• George Gamow – gave 4 bases
• Har Gobind Khorana - checkerboard for
genetic code
• CODON –
• 3 nucleotides which
Code for 1 aminoacid
 Features of genetic code
• Codon is triplet
• 61 codons for aminoacid
• 3 don’t code
• Code is degenerate( one aminoacid by one or more
codons)
• Continuous wihtout punctuations
• Universal (UUU phenylalanine)
• AUG – codes for Methionine and as initiator codon
• UAA,UAG ,UGA – terminator codons
 MUTATIONS
• FRAMESHIT INSERTION
• DELETITION OF BASES
T-RNA (anticodon loop)