Genetics

ur

Team William Bateson 1905

given by
was

Genetics Related to Gene

Study of Genes
It is the
study of Heredity
and variation

there'm LikeBegats Like It means

that An organisms will be a
parent of
similar organisms

Inheritance Basis of Heredity

Parents
to
Transmit from
offsprings
Transmission
2
necessary requirements for
character
of Presence Gene responsible that
i
of for
particular character
2 that
Empression of particulargene
Functional unit chromosome DNA
w of
which is responsible
Kohannasan for a
particular
 le des
of ganism
DNA Deoxy ribonucleic acid
Polynucleotide
Nucleotide pentose 5
sugar
Nitrogen base
N
p
Phosphate
Sugar DesoxyRibose sugar Pentose
sugar
p CHL te
1 0
I
C
y n C N
IC 1 1 Bond
OH Glycosidic
c
13 2
y
7
IPhosphate it
phosphoester Bond
Bases
Nitrogen
Purines Pyrimidines
Adenine DNA RNA
Thymine DNA
Guanine DNA RNA
cytosine
DNAdRNA

BHDoublestsanded HI iy cuffed

Human DNA Watson Crick Nobel Prize

Double stranded structure

with 2 strands to
other
running antiparallel
each
carried out X
 hey ay
crystallography studies

nurturers

iaf
r

digital
stuntmen
gu
Chargaff's Rule Dna
purines constant
Attic
Pyrimidines in RNA
uracil
Adenine
Guanine
Ct
cytosine

Minor groove
93.40A

mf
 Thing's
F im me

3000 3.4 I xiotom

How many bare

20 71
pairs are present

Double stranded Human DNA

in a DNA of
B DNA
length 2.2M
2.2 3.4 15
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µ

A Gene has number codons which

of
 a
fordifferent of
particular protein mRNA

DNA MAIA
µwm RItmomshf.az
Nucleus

harig Translation 6
molecule 5
DNA
Adenine protein
o of of I
augers 20
Enzyme Hormone
posses
we phospho
Bond
Htt structure component
Guan
q µ in it pigment
µ q
µ g
ga
S A G T A G T A A T T A 3
DNA strand

3 T CA T C A T T A AT 5
transcriptase f Transcription nucleus
5 UAGUAAUVA 3 mRNA
1
cytoplasm

I gidomnRNA
 Activate tRNA
Aminoacid
Activate tRNA
Amino acid 2

o o

Variation Differences which esiest among

the individuals a
population
of
Degree of change in
a
character
Genetic variation Somatic variation
types
a
Genetrivariation Variation in
genes
is During crossing over
Cii Mulation C sudden abrupt
These are inheritable variations change

b Somaticuariationm Develop in cells

other than Germinal cells i e
Somatic cells due to environmental

factors
or intentional activities
These are not inheritable
Character feature Characteristic
an which
of organism
is due to enforession of
the
gene
e
g Length 1 Height of organism
colour skin
of
colour
of eyes
colour of seeds
colour of Hower

Trait It is the different

form
character
of a
Tall
Is Dwarf
e
g Height
Colour of skin Dark

colour
light
Blue
of eyes
Boonen
colour of seeds Yellow
47 Green

Chromosomes These are

Homologousmum

chromosomes which bear

genes for
 Some devs

4
Skin I.at

i
14 147 are
Homologous
dq y
pair skin
1 2 are texture
13 heterologous
Blood
pair
8 group
12
insects Male I
g
to skin color
Chr Chr Chromosome 1
same same
CFPTI.ms
Homozygous Innm
same different Fishin Alleles
Heterozygous color y
Darrel telonging
Lavelle'gat
wanagaafothey
iygus
non sister flight f

Each other
chromatids

Alleles present
are at some locus
genes
on non sister chromatids of Homologous
chromosomes which are responsiblefor
 the
form of
character
Genes
Daek Dark Homozygous
Dark
light Heterozygous

Dominantmgenen The one which empresses

in
itself Homozygous Heterozygous
condition

which will
Recessive
gene express itself
condition
MTin
RR
Homozygous
RG 99
DD DL LL Genotype
v w
te b 6
Dark
Light light
D Dark
L
light

Genome Genotype Phenotype Filial generation

Cross Emasculation Tagging Bagging
Mendel
G m lo set of genes f
in haploid condition
23
Homologous pairs
46W Chromosomes

23chiomosomes Total Genes

form
Genome

23
pairs of chromosomes
22
pairscalled as Autosomes
Responsible for characters other than
Gender
23rd Allosome
pair
XX female
XY Male

Female Male
23 pairs 23 pairs
22 pairs 22
tg

I
Meiosis eions

X 2 2
 O 00
Homogametic Heterogametic

Genotype Genetic makeup represented as

Mwr
symbols
Phenotype
Mt Enpression of Genes for
characteristics
physical physiological
Filial Generation CF linked to the Previous one
murmur

Crosse x Multiply
Mating

GregoirenvmMendel

Father of Genetics
Born is Austria in 1822 in poor
farmer family
He studied
univeesityqvienna rs
He was a
from
Mathematician and intrested
in statistics
He worked in Epa plant
Pisa sativa and carried their
controlled Cross hybridisation by
 ggggggq_
collected data
He
for I years
1855
from 18622
He studied 7 charactersicts
of
PISUM Satinbum DOMINANT RECESSIVE
Tha Trait 1 Trait 2

Height of Plant Tall Dwarf

b Colour Flower Voilet white
of ae

E smiting
wan
iim
Colour Green Yellow
of fruitIPod Round wrinkled
f Shape of seed
Colour seed Yellow Green
g of

goeylhenewa

Xf i

wtffi
Pollen
µ grains
selective
1
Hybridisation
 Experiments cross 1 character studied
tmrw
Monohybridemism
Parent Tall Pure lines
Dwarf
AAO BBO Homozygous
gffougtion meiosisIReductfonjsation
g g g y
y
Progeny's
peuinatio phenotypic 3
Ft Ratio
taux Tall A
Genotypic
af Rati

Pagny Tall Dwarf

Fz Is g
ABO ABO
Factors Elements which control characters
occur in Pair

mummmurmurr
Mendel used to perform Back cross

F generation X Parenti
tale
A B X AA

ft Parent 2
generation
AB X BB Tall Dwarf
1 I
 ABOX
Tall
13130
Dwarf
F Generation X
talent
AB f AB Heterozygous
Tale Dwarf
3 i 1
ummm
It is a not a
LawofDominance
2
universal
i Factors which control characters occur

in pairs
2 Factor which represent itself in
Ist Filial generation is dominant
and the one which represent
in 2nd Filial
itself as
minority
is recessive
generation o clock Plant
CARLCORR ENS
Mono hybrid Cross EveningPrimrose
Enferiment2
Fo Voiletflowens X White Flowers
AA BB

Fi generation Pink Flowers

 setting

toilet P nk white
flowers flowers
flowers

convention we write Dominant Alleles

By and Recessive with
with capital Alphabets
small Alphabets

AAO x 13130

I Pleoteni

Prote white
voilet
ABO ABO a is not allowing
Bts empress
Both are eupressing Completely
B is not allowing
Partially A to eupress
Incomplete
Dominance Completely

x ABO
Y th
 B

white
Voilet TE
L 2 I

BloodGroupism Human Blood Groups I

gene

I Immunoagluttinin gene
f
I i
dominant Recessive
Allele Allele
1
Polymorphic

IA IB

BloodGroups Genotype Antigens

A IAIA A mood
IA i
J B minima
p
B 4

M31 IA IB AB omwwwun
D0C.ODOMINANCE

o ie
Q A couple has 4 children with different
blood what are the blood groups
groups
of the couple
Blood Group Genotype

f
R AB
S o i i

Bloodgroup
If couple is Heterozygous for
A B IAI IB i

Q In humans blue are recessive

eyes
to Brown eyes a
Ifhis boy has
brown but mother and
eyes blue
sister has what is
eyes
and his
genotype phenotype of father

Sohn Father Mother Blue eyes

Bb

I
Brother
O
MY
 00
Bb

From his with toilet and white

euperiment
Flowered Plant Mendel Proposed

L Lawq_
seggregation
Acc to thisthere is segregation
law
of genes during a cross but they
empress themselves in pure foam
may
in coming generations
3
Emperiment
cross
Dihybrid
inheritance 2 characters is
when of
studient simultaneously
Fo Round Yellow Wrinkled Green
seed seed
R
rryy0
I
 n I
Rs
I
seed

III setting t 1

R
mdmw Raiden wjinkledwwgn.me
9 3 3 I

menu

6
meiosis

6 cradaphase E

Independent Assortment

nvm

i
 t

ryRrYyRryy ymyy

Monohytd Monohybridoss
Round wrinkled Yellow Green
colour colour
seeds seeds

3 l 3 I
Fz

b Cc ta

ac ad t be bd

Round Round wrinkled wrinkled

Yellow
Y Yellow Green green
q 3 3 I

Trihybrids
Tall Round Yellow Dwarf wrinkled Green
 6
Fz generation
Phenotypic Ratio

Tall Tall e tall e Tate Dwarf Dwarf Dwarf Dwarf

Round Round Wrinkled Wrinkled Round Round Wrinkled Wrinkled

Yellow green Yellow Yellow Green Yellow Green

green
27 9 9 3 9 3 3 I

Mendel Published his and data

findings
in a local European Journal
His
findings were not able to circulate
around the world
At that time world was
fascinated and
influenced Darwin Evolution
by theory of

In 1903 3 workers Carl Cowens

Taschermark
Mutation theory Hug asi

were
influenced by the Article published
by Gregoire Mendel on Pisum satiuum
 They reproduced the same experiments
done Mendel
by
Genetic Disorders

Non disjunctional Disorders of Autosomes

Tmm

Male Female
22 XX
22
pairs t XY pairs
Meiosis Meiosis

ova
1st
sperms 2
2
2nd 2 2
3rd
4th Normally Homogametes
Hr Heterogametes
g 22nd
6H T

if due to non disjunction at Anaphase I

Male gametes Female gametes

23 2 2 2

43 Fdoevewelopment
 not takeplace
22 t xx t 1 Extra chromosome
pairs copyof
chromosomes
Trisomy of
Chromosome
21st Trisomy Downism

Syndrome

creased Palm
Round Moon like face n

Congenital
pheart Disease
fi
low IQ

18th Chromosome Trisomy Edward's

syndrome
13th Chromosome Trisomy Patan
syndrome

Non
disjunction of Allosome

Male
gamete femalegamete
i­
 O O 00

22 pairs MY 22pti
1
47 chromosomes 45 chromosomes

Turner syndrome
Kleinfeltersyndrome
Non Females with
functional
Reproductive organs nonfunctional
with male ovaries
female
External Genital organs
mm
Responsible
ovaries
for formation of
of
ovaries

1
Functional

oa x ova

Y SRY Sex Determining

gene
Factor
Jtesfsteoonemfo
testis
 mm

Honey bees Female fertilised eggs

22
Males unfatilised eggs
Z

Klinefelter's Syndrome 47 chromosomes

44 xxx

Masculine
Body build similar to males
and sexual characters
secondary of
Females
limbs and
long
Feminine voice
These individuals are sterile

Turneissyndoome e
45 chromosome
44 t XO

Sterile Females
Non Functional ovaries
Shoot stature short height

Budging eyes
Short neck
 Poorly developed secondary sexual feminine
characters

22 221
2 2

te

22paisst

superfemales Alphaefemales

Irregular menstrual cycle

onset
Early of Puberty
ovaries
suffer from Polycystic
suffer from Hormonal defects
child
Problems in Concieving a
Poor IQ

txYh
2
duplication of Y chromosome
te

XyyyT
22pairs
Jacob's
syndrome
Alpha males
criminal Bead mind
 of
Masculine body

X
linkedrecessivedisosders.me Seselinkedm

Recessive Disorders
nm
Haemophillia
defected
Normal related to blood
Dominant Xo gene
clotting Recessive i
Allelelgene CARRIER
Colour Blindness
These will empress only in
Homozygous
condition in females X Diseased

gm Males X No Normal dominant

gene is present
Diseased Male

A female whose father was Haemophillic

marries a male whose mother was
a carrier What is the probability
that the male child of the couple
will be diseased
Female Male

SE.fm uiiiicEiomaenEh
 xi x x x

l
Xix x xiY XY
carrier Diseased Normal

xi x x

I
x

xxilxxiiiilx.is
T lxxii
tI
I t
2 2

Autosomal Recessive Disorders

True

Defectivegene is present on Autosomes

and is expressive only in homozygous
conditions

3
0 In Homoggentisicacid

Normal Homogentisic acid 3 MethylAceto

Metabolic product HBD acetic acid

in care
of
disorder Homogentisicacid
will accumulate in Body fluid
and damage the CT
will start turning Black
Body fluid
Urine will also turn black because

of presence of Homogentisicacid
C Al Kaplan Black urine disease
1st metabolic Genetic Disorder discovered

Phenylketonuria
mm Phenylalanine

Phenylalanine
5 Tyrosine
Amino Aa'd

is in chromosome No 12
Defect
phenylalanine will start accumulating
in Body fluid and is converted
into Phenyl Pyruvio Acid
Low IQ
of the patient
kidney damage Nervous damage
 h
spafic

thallesemia
mm defective Haemoglobin
11 synthesis
chromosome
similar to Anaemia

Albinism Hydroxylase Tyrosinase

Melanin
Phenyl Alanine Tyrosine
11
chromosome
The
people are
deficient in Melanin
CALBINO

taysachdisease.mn Infantile Iodiotic

disorder

Sickle Cell Anaemia 11

nun chromosome

In the Glutamic acid in

Haemoglobin
B chain at 6 position is replaced
with valine
Such defective haemoglobin has less
RBC
oxygen carrying capacity and
become sickle shaped pyGanas

141A as
I
0,038,50213g
 Adult Haemoglobin
A
pThwEj
971 92132
A 37 Az Sz
Foetal Haemoglobin qtr
Myoglobin different

3 141

fogy
a as

Zor
B Zzz B Mb a as

6Th amino acid

Glutamine replaced
by radio

so

a 345
Amino acid
glutamine valine Defectives
I

oxygen carrying
capacity will
normal RBC seduce

sickleshaped
flexible RBG
non
fleeing
µ Brain
at
f osgas
Blockage Hypoxia