Gentics by Garima Mam

https://t.
me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES
Inheritance Variation
Process by which
Basis of characters are passed on Degree of
heredity from parents to progeny difference b/w
progeny parents
Early Efforts :-
Human ---> Cause of variation ---> sexual reproduction

exploited variations
Selective breeding
Organism selected having all desirable characters

Eg. Sahiwal cows in Punjab
Mendel's law of Inheritance :-
Mid-nineteenth century [ 1856 - 1863 ]
Garden pea
Hybridisation ( Pisum sativum )
https://t.me/neetpreparationadda247 Gregor Mendel Experiments GARIMA GOEL GOLD NOTES
Mendel - First time used statistical analysis + mathematical logic in bio.
Experiments - Large sampling size
Conducted using gave greater sampling size

artificial
pollination On garden pea
[Seven pairs] All True - breeding
Manifesting having undergone

contrasting traits continuous self pollination
Seven Similar resultsGARIMA GOEL GOLD NOTES

https://t.me/neetpreparationadda247
Contrasting Traits
S. no Characters Chromosomes
1 no.
Stem height Tall/dwarf 4
2 Flower colour 1
Violet/white
3 Flower position Axial/terminal 4
4 Inflated/constricted 4
Pod shape
Green/yellow 5
5 Pod colour
Round/wrinkled 7
6 seed shape
yellow/green 1
7 seed colour
Q.How many pairs of contrasting characters in pea plants were
studied by Mendel in his experiments?
(1) Six
(2) Eight
(3) Seven
(4) Five
Q. In his classic experiments on pea plants, Mendel did not use :

(1) Flower position
(2) Seed colour
(3) Pod length
(4) Seed shape

Inheritance of one gene :
Tall plant Dwarf plant [tt]
[TT]
1st filial Always resemble one of the parents
generation Tt x Tt + Generally superior to one of its
parents
2nd filial TT Tt Tt tt
generation (tall) (tall) (Tall) (dwarf)
Tall : Dwarf --> 3:1
In this characters not expressed in F1 are also expressed
Because Contracting traits do not blend at either F1 or F2 stage

Conclusion :
Something --> passed down (In unchanged form

--> Called it as ' Factors '
Unit of inheritance genes ( presently )

Alleles :
Genes having slightly different form
a pair of contrasting traits.

Homozygous :
Similar alleles eg. TT & tt
Heterozygous:
Different alleles eg Tt
Genotype :
Genetics constitution of an organism eg TT , Tt , tt
Phenotype :
External manifestation of an organism
--> Is due to genotype & environmental interactions .eg Tall or dwarf
Dominant factor:
Produces its effects even in heterozygous condition eg 'T' is dominant over 't'
i.e. Tt --> Tall type
Recessive factors:
Expresses only in homozygous recessive condition. eg, tt --> short/dwarf
Normally , expressed without any blending in F2 generation.

#Capital letter for dominant trait & small - for recessive
Monohybrid cross:
Involve only one character eg, TT x tt
Dihybrid cross:
Two characters
TTRR x ttrr
# Parents gametes
Meiosis Random process
segregate
one allele is 50-50% chances

transmitted to
https://t.me/neetpreparationadda247 a gametes GARIMA GOEL GOLD NOTES
Punnett square : By British geneticist - Reginald C. Punnett
graphical representation to calculate probability of all possible

genotype
Tt x Tt
Tt (Tall)
Phenotypic ratio -> 3 : 1

https://t.me/neetpreparationadda247 genotypic ratio -> 1:2:1 GARIMA GOEL GOLD NOTES
Q. If a heterozygous tall plant is crossed with a
homozygous dwarf plant then what shall be the
percentage of dwarf in offspring :-
(1) 25% (2) 100%
(3) 75% (4) 50%
Q. A pure tall and a pure dwarf plant were crossed

to produce offsprings. Offsprings were self crossed,
then find out the ratio between true breeding tall
to true breeding dwarf :-
(1) 1 : 1 (2) 3 : 1
(3) 2 : 1 (4) 1 : 2 : 1
Q. In pea plants, yellow seeds are dominant to green.
If a heterozygous yellow seeded plant is crossed with
a green seeded plant, what ratio of yellow and
green seeded plants would you expect in F1 gen-
eration :-
(1) 50 : 50 (2) 9 : 1
(3) 1 : 3 (4) 3 : 1
Q. Grey is dominant (G) over black (g). Which of the
following will most probably give 50% black and
50% grey offspring ?
(1) GG × gg (2) Gg × gg
(3) GG × Gg (4) gg × gg
Dwarf F2 plants ---> continued self breeding --> always generate
dwarf plants
# By looking at phenotypic composition , genotype can't be
predicted
can be determined Test Cross
Dominant X Recessive
Phenotype parents
(to be determined )
Homozygous dominant if all TALL

TALL + Dwarf
Heterozygous dominant
Law of Dominance Based on
Law of Segregation monohybrid cross
Law of Independent assortment
Dihybrid cross
explains expression of only 1 character
in F1 & both in F2.
characters factors
By discrete units
Dominant Occurs in
Recessive Dissimilar
pairs
similar - homozygous
https://t.me/neetpreparationadda247 No dominant - recessive relationship

GARIMA GOEL GOLD NOTES
Universal law
Principle : Alleles do no Both characters
show blending in F2
Gamete segregate independently
Each gamete has one alleles

How many different kinds of gametes will be produced by a plant
having the genotype AABbCC?
(1) Three
(2) Four
(3) Nine
(4) Two

Round & yellow wrinkled & green
[Dominant] [recessive]
[RRYY] [rryy]
Round Yellow
[RrYy]
Phenotype ratio :
[3:1]^2 --> 9 : 3 : 3 : 1
Genotypic ratio :
[1:2:1]^2 --> 1:2:1:2:4:2:1:2:1
Law of Independent assortment
When two pairs of traits are combined in a hybride , segregation of one
pairs of characters is independents of other pair of characters
Eg, RrYy
RY rY Ry ry
25 25 25 25
% % % %
Q. Dihybrid cross proves the law of :-
(1) Segregation
(2) Purity of gametes
(3) Dominance
(4) Independent assortment
Q.Mendel formulated the law of purity of gametes on the

basis of :-
(1) Dihybrid cross
(2) Monohybrid cross
(3) Back cross
(4) Test cross

Q. A cross between AaBB X aaBB yields a genotypic
ratio of :-
(1) 1 AaBB: 1 aaBB
(2) 1 AaBB : 3 aaBB
(3) 3AaBB : 1 aa BB
(4) All AaBb
Q. In a dihybrid cross, when one pair of alleles show

incomplete dominance, genotypic ratio comes to
(1) 3 : 6 : 3 : 1 : 2 : 1
(2) 1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1
(3) 9 : 3 : 3 : 1
(4) 1 : 2 : 1
Q.Which of the following is exception to Mendel's laws
(1) Linkage
(2) Incomplete dominance
(3) Codominance
(4) All of the above
Q. Due to the cross between TTRr × ttrr the resultant

progenies showed how many percent plants would
be, tall, red flowered :
(1) 50% (2) 75%
(3) 25% (4) 100%

Test cross

A test cross is carried out to :
(1) assess the number of alleles of a gene.
(2) determine whether two species or varieties will breed successfully.
(3) determine the genotype of a plant at F2
(4) predict whether two traits are linked.

Incomplete Dominance:
Exception to law of dominance
F1 phenotype doesn't resemble either of the parents & was
in between the two.
Eg. Dog flower [ snapdragon or antirrhinum species
RR rr
(red flowered) X ( white flowered )
Rr
Genotype ratio of pink
monohybrid cross = 1:2:1
( Pink )
RED
WHITE
Phenotype ratio also resembles to genotype ratio in case
of incomplete dominance
differs from normal phenotype ratio of monohybrid cross
Q.RR(red) is crossed with rr (white). All Rr offsprings are
pink. This indicates that R-gene is
(1) Hybrid
(2) Incompletely dominant
(3) Recessive
(4) Mutant
Q. In case of incomplete dominance, F2 generation has:-

(1) Genotypic ratio equal to phenotypic ratio
(2) Genotypic ratio is 3:1
(3) Phenotypic ratio is 3:1
(4) None

Q. On crossing red & white flowered plants the ratio
of red and white flowered plants in F2-generation
was 60:20, then on selfing the heterozygous red
flowered plants, the offsprings would be :-
(1) 72:24 (2) 40:60
(3) 52:48 (4) 84:16

Explanation of concept of dominance :
Gene [alleles] has information to express a
particular trait
Homozygous Heterozygous
eg. two alleles forms of a gene
Normal / less efficient enzyme
Unmodified / normal modified form of
allele allele such pairs are most common
produce same phenotype / trait
[generally dominant] [generally Recessive]
Non- functional enzyme
phenotype is affected --> will
Normal enzyme depends on functioning of
can produce unmodified allele --> represents
original
phenotype --> generally dominant
for transformation of a
substrate no enzyme
Recessive trait is due to this GOEL GOLD NOTES
GARIMA
Co-Dominance:
F1 generation resembles both the parents
eg. ABO blood grouping
RBCs --> Plasma membrane ---> Has sugar polymers
protuding from
Kind of sugar its surface
doesn't no Antigen Controlled by

produce any
sugar
i gene I
produce slightly
Antigen B B
I
different form
has three controls ABO

of sugar
allelic forms blood grouping

A
Antigen A
over RBC
I
six possible genotype & 4 possible phenotype

AB - Blood group shows :-
(1) Codominance
(2) Complete dominance
(3) Mixed inheritance
(4) Composite inheritance
ABO blood group is an example of :-

(1) Epistasis
(2) Multiple allelism
(3) Pleiotropism
(4) Complementary genes

Q.A man with blood group 'A' marries a woman with blood group 'B'.
What are all the possible blood groups of their offsprings ?
(1) A,B and AB only
(2) A,B,AB and O
(3) O only
(4) A and B only

more than two allelic forms of a gene present on
Multiple Allelism: same locus
of chromosome
governs the same character

Found only in population studies not in organism study A
single gene may produce more than one effects
eg Starch
BB
grains
bb
[ Large grains + round] X [ small + wrinkled grains ]
Bb
[round + Intermediate size]
so, starch grains size -
incomplete dominance
Dominance ---> Not an autonomous feature
---> depends on gene products
on particular phenotype influenced by it.

Chromosomal Theory of Inheritance 1902
Walter sutton and Theodore Boveri
Noted behaviour of chromosome similar to that of

gene
Colored bodies Structure in nucleus that
( visualised by appeared to divide just
staining ) before each cell division
# Chromosome as well as genes occur in pairs . the two alleles of a gene
pair are located on homologous site on homologous chromosome.
Meiosis 1 Chromosome pair align Pair

[anaphase ]along metaphase plate independently separate
due to pairing & Leads to

https://t.me/neetpreparationadda247 separation GARIMAvariations
GOEL GOLD NOTES
Experimental verification was done by Thomas Hunt Morgan
worked on Drosophila
Reasons melanogaster(fruit flies)
Ripe banana preferred over agar - agar
easily grow in Synthetic medium in laboratory

complex their life cycle in 2 weeks .
Single mating - large no. of progeny flies
Clear distinction of male & female
has many types of hereditary variations

Reasons why Mendel's work remain unrecognised till 1990
de varies
Mendel's work rediscovered by correns
von Tschermark
Communication wasn't easy

Concept that genes / factors don't blend - unaccepted
Mathematics
Couldn't providelogic in bio wasn't
any physical acceptable
proof for existence of factors

LinkageCoined
Physical association of genes on a chromosome
by Morgan
Recombination :- Generation of non- parental gene combinations
Body colour & eye colour

Alfred Sturtevants
1.3% recombination
Introduced - genetic maps eye colour & wing
Based on Basis of 37.2% recombination
frequency human
recombination genome
between gene project
pairs
PolygenicCharacters
Inheritance
controlled by three or more genes
Involves Multiple Alleles + Influence of Environments Phenotype reflects

contribution of each alleles
eg Human skin colour
Dominant alleles Recessive alleles

A,B,C a,b,c
AABBCC --> Darkest AaBbCc --> Intermediate
aabbcc --> lightest
Q. A polygenic trait is controlled by 3 genes A, B and
C. In a cross AaBbCc × AaBbCc, the phenotypic
ratio of the offsprings was observed as :
1 : 6 : × : 20 : × : 6 : 1
what is the possible value of x ?
(1) 3 (2) 9 (3) 15 (4) 25

Pleiotropy: single gene exhibit multiple phenotype expression
Is due to effect of a gene on Metabolic pathways.

eg , Phenylketonuria
Sex Determination :
Henking discovered 'X-Body X
Discovered In Insects
chromosome
Cytological observations
Leads
developments of concepts
of genetics / chromosomal
basis of sex
Q.A pleiotropic gene :
(1) controls multiple traits in an individual
(2) is expressed only in primitive plants
(3) is a gene evolved during Pliocene
(4) controls a trait only in combination with another gene

Sex Determination Haploid- diploid
Male Heterogamety Mechanism
(a) XO type eg,
Insects 2011 Female Heterogamety
(a) ZZ-Zw type male -
In Bees
[Grasshopper]
always Z female - Z Based on no. of sets of chrom. an
few Males have an
-W individual receive
additional 'X' chrom. +
Female always X chrom. ZZ - Male
ZW - Female Male ---> sperms
XX -> female eg - Birds
XO -> male (b) ZZ-ZO type
Sperms X Ova
(b) XY type eg, Human +
Drosophila
Male- Z Female (queen or
Male - X chrom. Female - Z worker )
- Y chrom. -O +
+ ZZ - Male Unfertilized egg
Female always 'X' chrom. ZO - female Parthenogenesi
s
eg, Butterfly Male

(have half no. of
XX -> female
chrom. than females
XY -> male
The condition in which only one allele of a pair is present in a
diploid organism is known as :-
(1) Homozygous
(2) Heterozygous
(3) Hemizygous
(4) Incomplete dominance
No. of Bar Body in XXXX female :-

(1) 1
(2) 2
(3) 3
(4) 4
Barr body is associated with :-

(1) sex chromosome of female
(2) sex chromosome of male
(3) autosome of female
(4) autosome of male
Which one of the following conditions of the zygotic cell would lead
to the birth of a normal human female child ?
(1) One X and one Y chromosome
(2) Two X chromosome
(3) Only one Y chromosome
(4) Only one X chromosome

Sex Determination in human beings
Female Male
[22 + XX] [22 + XY] [22 pair -->
autosomes]
2011 XX XY
XX or XY [ 50-50% of chances of a boy or girl]
female
Mutation Results in alternation of DNA sequences
Leads to Changes in the genotype & phenotype of

variations organism
in DNA
Causes :- commonly in cancer cells
Loss or gain of a segments of DNA
Changes in genes located on chrom. --> chromosomal aberrations
due to change in single base pair of DNA
Point Mutation
eg, Sickle cell Anaemias
due to several base pairs --> Frame shift mutation

due to physical & chemical factors --> mutagens eg , UV rays

Genetic Disorders:
Chromosomal
Mendelian Disorders
Disorders
Mendelian Disorder :-
Due to alteration / mutation in single gene can be dominant
recessive or sexlinked
Transmitted to offsprings
can be traced by
pedigree analysis
on Mendel's inheritance
eg, Colour
basisBlindness :- Sex linked recessive disorder
Due to genes present on Due to defect in
X-chromosomes red or green cone
# Occurs in 8 % males & only in 0.4% females
Case I Mother [ carrier ] X Father [colour blind]
Son & Daughter

[ can be colour blind 50-50% ]
Mother [ Colour Blind ] Father [Normal]
Case II Son X Daughter
[ always colour blind ] [ 50-50% chances ]
All sex linked recessive disorders can be studies using

these cases.

Q. A normal visioned man whose father was
colour-blind marries a woman whose father was also
colour blind. They have their first child as a daughter.
What are the chances that this child would be
colour-blind?
(1) 25% (2) 50%
(3) 100% (4) Zero percent
A man whose father was colour blind marries a
woman who had a colour blind mother and normal
father. What percentage of male children of this
couple will be colour blind ?
(1) 25% (2) 0%
(3) 50% (4) 75%

Q. A colour blind man marries a woman with normal
sight who has no history of colour blindness in her
family. What is the probability of their grandson
(son's son) being colour blind ?
(1) 0.25 (2) 0.5
(3) 1 (4) Nil
Q. If a colour-blind man marries a woman who is

homozygous for normal colour vision, the probability
of their son being colour-blind is :-
(1) 0.75 (2) 1 (3) 0 (4) 0.5

2012 , 2013 , 2016
Haemophili Sex linked recessive disorder
a Results in non-stop bleeding

A single protein eg, Family pedigree of queen victoria
part of cascade of
of protein
clothing of blood
Involved in
2017 Is affected
Sickle cell Anaemia Autosome linked recessive traits
Controlled by single pair of alleles ,

sue to substitution of glutamic
Acid / GAG by valine [GUG] at
HbA & Hbs
6th position of Possible genotype
β- Globin chain
https://t.me/neetpreparationadda247 Mutant Hb GARIMA GOEL GOLD NOTES
undergoes polymerisation Changes RBCs from biconcave
under low O2 tension to sickle like structure
Phenylketonuria
Autosomal recessive Inborn error of metabolism
Affected individual lacks phenylalanine hydroxylase
Phenylalanine
result
gets accumulated Tyrosine

converting into
leads to mental retardation

Phenylpyruvic Acid +
other derivatives Excreted through urine Because of its poor absorption
https://t.me/neetpreparationadda247 by kidney GARIMA GOEL GOLD NOTES
Thalassemia
Autosomal recessive
Results in reduced rate of
synthesis of globin
Quantitative problem
Chains [α & β ]
Due to formation of abnormal Hb --> results in anaemia
Types : Thalassemia A Thalassemia B
α globin chain
β globin chain
production
affected
-> controlled by
-> controlled by Hb A1 & HBB on chrom 11
Hb A2 on chromosome 16 GARIMA GOEL GOLD NOTES
Due to absence or excess or
Chromosomal Disorders abnormal arrangement of chromo.
Aneuploidy : Failure of segregation of chromosome
Polyploidy : Failure of cytokinesis after telophase
results in an increase in whole set of chromosome

often seems in plants

Down's syndrome : Trisomy of chromo 21
First discovered by Langdon Down
Result :
Short statured
small round Head
Furrowed Tongue
Partially open mouth
Palm broad + characteristic palm crease
Physical developed -->psychomotor
retarded mental

Klinefelter's syndrome: Presence of addition copy of 'X'
chromo. i.e. XXY
symptoms
overall masculine development
:
Gynaecomastia also
Individual is sterile can't produce
young ones
Turner's syndrome: Due to absence of one X
chromo. i.e. 45 with XO
as ovaries
other - rudimentary
feature including leakbesides
of
Female - sterile
other secondary sexual
characters.

Pedigree Analysis
Study of inheritance of a particular trait.
Helps in analysis whether trait is dominant or recessive
In cytoplasmic inheritance , more

maternal influence among the offspring.


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https://t.

me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

Organism selected having all desirable characters

Experiments - Large sampling size

Conducted using gave greater sampling size

Manifesting having undergone

Seven Similar resultsGARIMA GOEL GOLD NOTES

3 Flower position Axial/terminal 4

Q. In his classic experiments on pea plants, Mendel did not use :

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

Because Contracting traits do not blend at either F1 or F2 stage

Something --> passed down (In unchanged form

Unit of inheritance genes ( presently )

a pair of contrasting traits.

Normally , expressed without any blending in F2 generation.

one allele is 50-50% chances

graphical representation to calculate probability of all possible

Phenotypic ratio -> 3 : 1

Q. A pure tall and a pure dwarf plant were crossed

Homozygous dominant if all TALL

https://t.me/neetpreparationadda247 No dominant - recessive relationship

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

Q.Mendel formulated the law of purity of gametes on the

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

Q. In a dihybrid cross, when one pair of alleles show

Q. Due to the cross between TTRr × ttrr the resultant

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

Q. In case of incomplete dominance, F2 generation has:-

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

doesn't no Antigen Controlled by

has three controls ABO

allelic forms blood grouping

six possible genotype & 4 possible phenotype

ABO blood group is an example of :-

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

governs the same character

on particular phenotype influenced by it.

Noted behaviour of chromosome similar to that of

Meiosis 1 Chromosome pair align Pair

due to pairing & Leads to

Ripe banana preferred over agar - agar

easily grow in Synthetic medium in laboratory

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

Communication wasn't easy

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

Body colour & eye colour

Involves Multiple Alleles + Influence of Environments Phenotype reflects

Dominant alleles Recessive alleles

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

Is due to effect of a gene on Metabolic pathways.

https://t.me/neetpreparationadda247 GARIMA GOEL GOLD NOTES

eg, Butterfly Male