Genetics

Mendel 's laws

chromosomal Theory
sex Determination

Pedigree -
mutation

Genetic Disorders

2- 3 Qts
 Mendel 's Law of Inheritance
• father of Genetics : G. J . Mendel

Inheritance : Process which characters pass

•
by
from parent to
progeny .

Mendel conducted hybridisation erupt . on Pea

( Pimm sativum )
for 7-
years (
1856 -
1803
)

knotgrass
Pea
• has
many contrasting characters
short
•

life span
• Show
self pollination
•
Easy to
artificially cross pollinate

• Mendel 's success due to meticulous planning

• studied 2 character at a time .

•
Applied statistics to analyse results .

• Selected 7
contrasting characters .
• True
breeding lines developed (which undergo
self pollination continuously)

Monohybsid Cross
'

• Mendel called FACTORS

'

that pass from one

generation to other .

(now GENES)
• TT
g
Tt
,
tt :
Genotype
• Tall , Dwarf :
Phenotype

Monohybsid cross

x tt

⑦ to
Tt X Tt

T
t T t

monohybrid ratio

TT
3 : l ( phenotype) Tt
l : Tt
2 : l
(genotype
it
 Law of Inheritance

Based on Monohybrid Cross

Law of law of
DOMINANCE SEGREGATION

•
characters controlled Alleles do not
discrete blend and both
by factors characters recovered
allele
• Dominant
during gamete
empresses itself
or
in
formation .

presence absence
Universal Law
of other factor
•
Forms a
complete
functional enzyme .

Not universal
-

Incomplete Dominance
-
co dominance

Incomplete Dominance

Post Mendel
•
discovery
 Neither of 2 alleles dominant
•

mined
being .

• So
, hybrid
In SNAPDRAGON

co -
dominance

alleles both
Two
exhuming themselves
-
• .

In ABO blood group

 Dihybrid Cross
studies 2 characters

simultaneously .

Phenotypic Ratio
9 :3 :3 : 2

Law
of
Independent
Assortment

when 2 hairs of
traits combine in
a
hybrid segregation
-

of one pair of
characters independent
of other pair .

Chromosomal Theory of Inheritance

By Sutton I Boveri

Pairing I
segregation of chromosome lead
to
segregation of pair of genes they
carry
.
Linkage I Recombination
• When 2
genes
in
dihybrid cross onthe
same chromosome -

parental combination
more .

father of Entrerimental Genetics

Morgan :

Coined ' '

% LINKAGE
?
association
Physical of 2
genes
: worked on DROSOPHILA
2
2
completes life cycle in 7- days
Why ?
.
.

orand distinct
2 .

of morphological

Alfred Stutevart
used
gene
frequency for
mapping the

chromosomes
 Sen Determination
observed BODY
Henning X -

•
 Pedigree -
Mutation

mutation
Results in alteration DNA sequence
•

of
A
•

change in
genotype phenotype

Pedigree
Analysis traits several
•

of in
generations .
 Genetic Disorders

Mendelian chromosomal

• Alteration in single .
Due to absence or

gene emcees
of
chromosome
2 or more

• Recessive or Dominant
.
neways Dominant

colour Blindness Down 's

Syndrome
Haemophilia Turner
syndrome
sickle cell Anaemia Klinefelter syndrome
Phenylketonuria

colour Blindness
• Sese linked recessive disorder
Red E
•

Inability to
differentiate between
Green colour .

Haemophilia
• Bleeder 's Disease
 • A minor cut leads to non stop bleeding .

•
Heterozygous f can transmit to son .

Sickle -
CEU ANAEMIA
• Autosomal recessive
RBC
•
shape of
Biconvex → sickle
like

• Glutamic acid substituted

valine at 6th position
by
of p
Hb
globin
-

molecule
chain
.
of

GAG → GUG

PHENYLKETONURIA
• Autosomal Recessive metabolic disorder

• Lacks an
enzyme that converts phenylalanine
to
tyrosine .

• As a result :
Phenylalanine accumulated I
acid to
converted to
phenylpyuuic
mental retardation
leading
.
 Down 's Syndrome
Due to
•
presence of
additional
copy of
chromosome -
21

•
Affected person -

short statued
small rounded head
Furrowed
Tongue
partially open mouth
mental Retardation

Turner 's
Klinefelter Syndrome
syndrome
Additional Absence 2X chromosome
• X chromosome
-

of
xxy • 45 with XO

• overall masculine a
females are sterile
• feminist develop -
like a

Rudimentary ovary
sexual
lack
Gynecomastia (develop)
breast or
secondary
characters .

• Sterile
Previous yrs Impe