Principles Of

Inheritance & Variation

eums: and variation

thatdeals with inheritance
-

↳Genetics-Branch of biology
2)
of
Inheritance-Tansmission from
character one
generation to
another.

3) Homozygous-chromosome similer allele of

OV
Pureline / true
breeding gene. (TT, tt,RR, RRYY)
pair carries

3) Heterozygous--condition in whichchromosome pair contains

dissimiler alleles of
or
Hybrid
[Tt, RV, Yy, Aab) gene.
6) dominantcharacter-> which homozygous well in heterozygous condition.
expressed
in as as

Indication
with capital letter. T
1) Recessive character -
-xpredationall HOMOZYGOUS condition.
letter
8) Phenotype-> Physical
↑

of
expression character.
9) Genotype->
L

composition
Genetic
of a character.

40) Punnett square ->

representation
Graphical to calculate
probability of offspring geneticcrass.
of all genotype in

-Linkage Physical association

of genes.
two

Formula
portant
Multiple
Type of Gamet-(2) genotype for
&

No of

alllismiz)
4
Phenotype-(2) n=No te
Shukla
"
ByNikita
Genotype-(3) allele
-

my
love to
with
Nsbatallion.
n No. of
=

Heterozygous
t.me/nikitashukla condition. @NIKITASHUKLA2020
 I
Mendel's rediscovered
I

In 1900. work was

·
Genetics by
de Vries Holland
heritance
Mugo ->

Carl couvers - Germany

↓ Transter of variation
Erich Tschemark Austria
bywhicparent
h priorities
-
erm-
BY

degree
adiffers
Segmentof Johansen
character
responsible
factor/Gene ·from contrasting character
DNA
of
Eye color Mendel Selected 7
pairs
for inheritance.

controlled
or
codes for protein
Skin Colour
heridity. character, a
orjust chromosomes
trait/incontrasting
of
unit 2
alternate
Height Mutation.
form
of
variation in
cross/deliberate
gene

Allele -
controlled
>

Traits
ec.(is Tall
Dom. Rec.
steps in making
a
Mating

with
Recessive (ii) Dwarf Selection-2 pea plants contrasting
Dominant characters.

at ye
plantremoveeatenation
disErasGulation
7

Father of Genetics -> Gregor John Mendel note.Need

flower.
Pollen grains from the
male
to
not be done in unisexual

(1822 1884) -
Pollination:-> Collection
parent and
of female parent.
transferring
to

Collection of produce offspring.

(garden
& seeds
germination
to

Pisum
Monohybrid
work on drum beas nheritance of One Gene cross

1856-186374VS
-
Phenotypic Ratio

is
3:1
dwary Non. Mendelian Inheritance

Back Cross.-Fx generation

Reason
Tall
P
of Pea Plant (Dominant) (ranfer) eviation Law of Dominance

Choosing
from
character 25%
75%
(i) Incomplete Dominance/semi-dominance/
OU 24 Partial Dominance
3/4 Cross
Out Flower colour of Snapdragon/dogflower
verb Test Cross -29.

Short span Antiuninummustrabiesde

lifeavailable
1 : 2:2 -
etype.
F2x Dominant Parent
in e

1 4 Dwarf
shows intermediate
Pure Heterozygous
Mybrid
Receive
=>

Mendel's observation Ta l l (25%)

Ff Heterozygous x character blu two parental character.

Easily
Tall I
Parent TtxTT patipicratio.Phenotypica
(251)4 5
-
=
ratio
Dominance:

⑰-
iw of 1!2! 1!2!L
=

(50-1) It x tt dominant
done (AH)
write
All r Red Pink
controlled can be
Grossing I
states that –
Fr+ All Intermediate character.
a. Characters are controlled by discrete units called factors.
(Pinks
>Phenotypic
b. Factors always occur in pair. conclusion R in
so t
completly dominance

characte Co-Dominance
over
c. In a dissimilar pair of factors one member of pair dominate the other.

Many contrasting Exception

① Co-Dominance
of Law of Dominance.
I
O

T t
t

t
ratio 1:1 Inheritance
a re expressed
in

in a
ho t h alleles
w h i cb

hybrid.
of a
gene

Large
t 30%:50% ABO blood
↳
eg. group in Human.

sampling
⑦ Incomplete dominance
size -> heads to
accuracy ABO blood controlud
t it tt groups are

Segregration/Law
Each
W

Purity
of Gareteand Law
of sugar (Antigen)
I'
Law of
of by gene on
B
# Production
gene,
Pure can be
line maintained. alleles do not blends and both the characters are recovered during
Monohybrid TestCross Ratio 1:
co-Dominance
I
gene
->

X
3 allele (Multiplelage in
More than
it

wasingenean
gametes formation as in F2 generation. During gametes formation traits
IA, IB, 5%
testCross Ratio 1: 1!1!
byhybrid
segregate (separate) from each other and passes to different gametes.

Why did.
Mendel
the ·wamiauare,Regina
-

Recognition
e

Foudhariandit
of Two
Oyhybrid Inheritance genes Lob.
Cross

Genotype
Both
expresses their ow n

use. To know the

Two character study.

re I min
group.
-
Phenotypic Ratio dominantcharacter
- The law states that ‘when two pairs of traits are combined in a

No Die
-

unknown
on concept
ofexistance
genelfactor. factor
hybrid, segregation of one pair of characters is independent of the

No clarity
other pair of characters’.In Dihybrid cross two new combinations, - Polygenic inheritance - traits are controlled by three or more genes (multiple genes). These traits are called polygenic traits. The phenotype shows
round green & wrinkled yellow are formed due to independent

Hormonzeroin
participation of each allele and iinfluenced by the environment &quantitative inheritance as the character/phenotype can be quantified.

ir"
assortment of traits for seed shape i.e round, wrinkled and seed

Homozygous dominant.
color i.e , yellow and green.

genotype
For example, human skin colour which is caused by a pigment melanin. The quantity of melanin is due to three pairs of polygenes (A, B and C). If it
is

physical & staties of (gene)

is black or very dark (AA BB CC) and white or very light (aa bb cc) individuals marry each other, the offspring shows intermediate colour often

used Maths proof of

called mulatto (Aa Bb Cc). A total of eight allele combinations is possible in the gametes forming 27 distinct genotypes.

Dominant] genotype
Means unknown is
Note: concept ofdominance. 50%
Heterozygous Dominant.
Pleiotropic gene: -

Singh gene
exhibits

4nwmight
expression.

in
multiple phenotypic
Recessive
C
biologywas
50.1.
a Mostc a s e s ->
affects
on Metabolic pathwayer. DIV

t.me/nikitashukla @NIKITASHUKLA2020
character 1 character
-16
Ratio-
Genotypic

re c e i v
Itb e co m e s
 Table /aues.
Importantdifference
disorder
Blindness-iX-linked recessive
CROSS -B Autation (ii)Colour

I
CROSS A -

Affected - Red and green c o m e

between red and
Roults-failure t o discriminate
of
eye.
Sudden in DNA gran

Eye change colour.

character. erquence.
Body
i n X-chromosome.
Character genes
issome

Mutagen->
Mutation
-

causing agent Mulation

in 8%
of Males

wing
occurs
colour, Metagenithmutation
tantscalled 0.71.
of
Females
colour, Eye colour
colour
-

if father
colourblend
se is
t be only
shape
gan
femaleswill e
a re

affected
Types of
Mutagen

Recombination Recombination
- i (i) Sickle-cell Anaemia
Biological: -

some viruses.

emiatical.AddingRagg. X-Ray,
Recessive disease.
of Inheritance. 13% Autosomal linked

Chromosomal Theory 37.2% A, B,

Wray At
chromosome no. 1 1 Gene of B. globin
Non-Jonising Ray, UV
rays.
chain
changes.
of Haemoglobin A person with
.
Types of Mutation Don't
go through atean a
distance
*

Boveri has Distance is

->

properly.
roposed by Walter Sutton &Theodore as veral SLA example - is

of pleiotropy
Biconcave Sickle sidea decreases Co-Dominance.
shaped
Move disanfer

E)GangoniteralankwetouIrnderagedataengor.
RBC
chromosomal segregation between genes
/Sutton united
Mendelian
with Principles are less. e
in which mutant haemoglobin molecules
undergo polymerization under low oxygen
tension causing change in shape of the

States
RBC from biconvex disc to elongated

Linkage
sickle like structure. The defect is caused

T.H Miratione
-
-
substitution
Mov
↓ by the substitution of Glutamic acid (Glu)

gan
by Valine (Val) at the sixth position of the
GAG GUG cwU
PUEPY

Chromosomes are vehicles

Note: beta globin chain of the haemoglobin

of heidity iteransonSingleare raced

molecule. The substitution of amino acid

Ratio deviated
is in the globin protein results due to the

9:3:3:d from Py =
Py() r)
Substitution
(Replacement)
single base substitution at the sixth codon

Identical chromosomes forms a homologauspair. Phenylketonaria [PKU]

-

of the beta globin gene from GAG to

iil
paint
Transversion-PUFPyr[**] Readathon (iv) GUG

Homologous pair
as Law
of Independentassortment & b

insation
of
Frame Shift Mutation, Iti s

anRougeneselling
t hdeletion
e

in
or

An inborn ear
daboiem
gamete
segregates during is not
followed.
Autosomal recess;
cason-Deletion (Land)

formation sharon,gait.Insert the The affected individual lacks an enzyme that converts the

associationof
amino acids phenylalanine to tyrosine .As a result of this

independently
segregate
Independin'tpairs Linkage Physical
phenylalanine is accumulated and converted into
GAG
-
CAGE CCAA - - - -

phenylpyruvic acid andb lac k

Enzyme-line an adroxylase
other derivatives that results into
GAGCCA AGA
CA A mental retardation.
e

two chromosome.
more on a
GAG CAA
GAC AA---

of each other. or
gens pleiotropy.
frame beyond place Shows
change the reading
Note:I t

assortment.
at

Don't Independent
ssemia
show
in chromosomal
Chromosomal Mutation.
# Changes
chromosomes.
the

number

present
but
Chromosome
changein
No
structure/length
Note:Genco (factors) are an
Autosomal Recessive blood disease.

shows similar
(1) Genomic If agrabmen,o rexam orabnormal
Mutation.

44 blood disorder.
s omee

Linkage 11 Recombination
Quantitative
Hence, and Distance44
2type

chromosomes
-

genes &qubpolidayschange
thehateinpromosomeof
Due tMutation
o
or deletion.

cell divism i n Roults is of o r

reduced synthesis

behaviours. ⑥
ofhaemoglobee
chain
globin
an

Anubisainotsegaanee
~>
segregation
causes an ae mia.

22 NVYSOYDown syndromeent Types

< Thalassemia
Of
B Thalassemia
Distance
⑳
x Recombination Pedigree Analysis
productionane Production of
the
in
chromo- GraphicalerRepresencein affected.Chromosome- 16 A
is

globented

Recombinating
controlled by.
by single

argumente
controlled
somes Alfred Stotevant
gave gene mapping. inodageda
generatene
gene
HBA
it
1
gene-HBB or
HBA 2 chromosome- 21
of
a is
Less <-chain produced. each parent.
meas are not possible.
e D

gens)
Pattern of
al
formula.
Recombination is Autosomal-22 pairs
Inheritan
t
Chromosomal Disorder
Sex-linked
(other than sex chrosomes Ion sex-chromose)

No. of Recombinants
evena mile
Recen damaran due absence
x100 Chr-dL
caused to (ii) Turner's Syndrome
the
abnormal
&
W
*
No.
Total
of Progey or excess or
due to the absence of one of the X
Thomas HuntMorgan of
29 Hypertrichosis

Pedigree one or

arrangement
Tricks fo r

AutosomalS ex Sex-linked chromosome. 45 with XO, such

chromosomes.
Autosomal
↑
linked
dominantRecessive more females are sterile as ovaries are
flies.
proved using fruit *
Maleswere
Generation

Recombination. daughter
All
Neverskep
Distance blu & skip afferted *A rudimentary. They lack secondary
gene.
generation affected

B.
children if father
thele Failure of segregation of chromatids during
sexual characters.
melangaster
Drosophila I
children u naffected
of

parentindispar
is affected
of

Dwarf and Mentalin

Unit-Centimorgan (Eukaryotes)
affected
CVISS- cell division results in loss or gain of
③
parents might
be u n affected cross
from father Inheritance chromosome called aneuploidy. The failure

spanweeks
shortLife
is
map unit-Prokaryote.
to son.

of offspring
of cytokinesis leads to two sets of
the

Genetic Disorder chromosome called polyploidy.

Large sampling size. -

determination ing xboay

CisDown's Syndrome: Gentie
* Sex chromosomes/Allosomes
Sex constitution.
->

inMale
(x-chromosome)

Male and Female be

distinguish determination
50%Sperm ->X

↳ Mendelian disorders and

⑧
(iii) Klinefleter's syndrome. Trisomy
chromosomes involved in
can 50% Sper m-> absent
↑ SA XX +

Chromosomal disorders.

easily. presence of additional copy of the OU

Note: All these
Male Female Examples 45A+XY
System
I

Type
/kaiS

P(lesse
(Pedigree analysis
chromosome number 21
charactere
an 0, n
=

4 7 Chr.
Total

&
=

Human &
No
no
o n Chr.
affect
or struc ture. - >

trisomy -

due to presence of an additional copy of X-

small in
size-easy Manage.
to
Male XX xY XY XX
-

chromosome.
Itc a n be on
simple drosophilla affected individual is short statured
chromosome (XXY). Such persons have
grown Hetero
gamete overall masculine development however, the
mediumidity
⑳
syphilia
Sickel-halassaemia Klinefelter's Syndrome

variation
the

Male Mendelian Disorder Qualitative with small rounded head, furrowed feminine development (development of
Grasshopper disorder OR

③
blood

XX
Disorder
with lower XX-XO XO causeB ilaltratiosingle
Blood
clotting breast, i.e., Gynaecomastia) is also
can be seen
easily Metevogamete cocisvoach gene.
<is Haemophilia A->Rayal Disease
Faeneenristmas disease
tongue and partially opened mouth. Mental &
expressed. They are sterile.,
microscope.
W

power ci) Haemophilia (Royal disease) pi, factor absent. Psychomotor

development is disease,
retarded. Broad
-

Character Dominant Recessive Female zW fewbirds &

swildtype) 22. ZW
22
It is sex linked recessive disease (x~linked).
tart
congenital Hatface
Body Colour yellowly) Heterogamete Reptiles
Eye Color
Brown
(y+)
Red (vi) white (w) L
22-20 22 20 Butterflies In this minor cut leads to non-stop bleeding.
Protein involved in blood clotting is affected.
Normal (m+) miniature (m) 17 moth
Wings

t.me/nikitashukla
y
@NIKITASHUKLA2020
Heterozygous female (carrier) can transmit the
disease to their son. The possibility of a female
Note:
Heterogametic
Queen (32)
partner will determine sex/gender of
Haplo-diploid Sex determination
progeny. becoming a haemophilic is extremely rare

withoutasenis:
(ans Queen
meiosis
* Female bee (2n)
32 -
because mother of such a female has to be at
aredronetosi
-

gaiete. uns: In Gameters Nace(n)-16- Dramaarber (Stevie e least carrier and thecarrier
↑x-Female father shouldtemale
be