12th hacker series

Principles of inheritance and variation

Genetics
• genetics- combined study of inheritance and variations
• Inheritance- process of transfer of characters from parents to
offspring
• variation- degree by which progeny differ from their parents
• Gregor Mendel- father of genetics
• 8000- 1000 BC- cause of variation was hidden in sexual
reproduction
• Artificial selection- Indian breed Sahiwal cow in Punjab
• little idea about scientific basis

DNA- molecule, responsible for inheritance and variation

(deoxyribonucleic acid)
Packaging is done
Maximum condensed form is called as chromosome

• locus: physical location of gene on chromosome

• Character: features of organism. For example.- plant height ,flower
colour.
• allele:: genes
jeans, which core
code for a pair of contrasting traits slightly different
forms of same gene .
arise due to mutation
• Homologous chromosome: same locus of every gene
• trait: specific characterisation. For example.- tall, dwarf.

• homozygous allele: pure line/ true breeding

Similar allele in diploid cell
TT or tt
• heterozygous allele: impure
Dissimilar alleles in diploid cell
Tt A
• dominant AlLele: Allele which express itself even in
heterozygous condition
• Recessive allele: which express itself only in homozygous condition
• Phenotype: observable character, for example- tall, dwarf
• Genotype: genetic composition ( TT/ tt/ Tt)

Aa AA
Types of gamete- 2 Types of gamete- 1
n- 1 n- 0
2=2 A 2° = 1. A
a
AaBb
Types of gamete- 4
n- 2
2 =4 B AB
A b Ab
a B aB
b ab

Fork line method

Line
Homozygous

Heterozygous
Fork

Conducted hybridisation experiment

• 1856- 1863( 7 years)
• Proposed law of inheritance in living organisms
• after 16 years of his death, Carl corren,s Hugo de vries and ven
vontshermack
Tschermak - rediscovered work independently

Why Mendel’s experiment were successful?

• statistical analysis in maths logic
• Large sampling size. More credibility.
• Use
Useofgarden
garden pea plant
plant
 • experiments on successive generation. general rule of inheritance.

Reason for unrecognised work

Use of maths logic to

explain biology was
No physical proof for new and unacceptable
existence of factor for the biologist at that
time
Communication was
not easy as it is now
His concept of gene as stable
discrete,
discrete units which did not blend
was not acceptable by his
contemporary

Why Mendel used garden Pea

Short Easy to Naturally Contrasting Produce Bisexual

life cycle grow self pollination traits large flowers
hybridisation number
(Artificial) of seeds
 Mendel conducted cross pollination (Artificially)
using true breeding Pea line
• He selected 14 true breeding contrasting traits
• Undergoes continuous self pollination and shows stable trait
inheritance and expression for several genes

Inheritance of one gene

• Single character is considered
• Monohybrid cross
• he performed monohybrid cross all seven characters

Formula for F2 generation

Types of phenotype = 2
n= number of heterozygous
Types of genotype = 3 pair

Zygotic combination = 4
 Law of dominance (first law of inheritance)
• Characters are controlled by discrete units called factors/today
known as gene
• Factors occur in pair
• In case of dissimilar factors One member of the pair dominate the
other.
• This explains that only one of the parental characters expressed in F1
• Proportion of 3:1 obtained in F2

Exception of law of dominance

• Incomplete dominance
• Co-dominance

Law of segregation/ law of purity of gametes

• Based on the fact that alleles do not show, blending and both
characters are recovered at such in F2 generation
• Pair of factors or allele segregate from each other during gamete
formation and gamete receive only one of the two factors
(universal law)

NEET 2019 PYQ

Punnet Square
• developed by British geneticist - Reginald C punnet
• Graphical representation to calculate the probability of all
possible genotype of offspring
 Inheritance of two genes/Dihybrid cross
• Two characters are considered
• to study the impact of inheritance of one character over the other
 Law of independent assortment
• When two pair of traits are considered in a hybrid, segregation
of one pair of character is independent of the other pair of
character
• Exception- linkage

Special cross Dominant

• back cross- cross with parental gene
Recessive

• test cross- Uses-

• to predict genotype
• to know types of gametes formed
F1 generation/F2 Cross with recessive parent
Plan showing dominant trait is crossed with
recessive parent
 Incomplete dominance
• Exception of first law of inheritance
• Dominant trait is not expressed completely
• F1- matches neither of the parent
• Example- dog flower( snapdragon or antirrhinum Manjus,
Mirabilis Jalapa ( 4 o’clock plant)
• PR= GR
• Due
Due to Modified
to Modified all
allele all could
could be responsible
be responsible for for
1. normal/less efficient enzyme
2. Non-functional enzyme
3. no enzyme at all

Codominance
• exception of law dominance
• in heterozygous condition, both alleles express them equally
• F1 generation- matches either of the parents
• P R= GR
• Example- AB blood group
Coat colour in short horned cattle
 Multiple allelism
• presence of more than two alleles for a gene
• Arise due to mutation
• Studied at population level
• Types of genotype= n(n+1)/2
I
• Types of phenotype= n+1
I
• Example- ABO blood group
• Regulated by I gene, has 3 alleles I
• polymer of sugar that protrude out of the cell membrane is called as
antigen which decides blood group
• I-gene decides antigen. Polymer of sugar.
 Pleiotropy
• Single gene exhibit multiple phenotypic expression
• Because product of gene is involved in different metabolic pathway
• Example- phenylketonuria
Single gene mutation
Cause Reduction in hair
phenylketonuria Mental
retardation
Depigmentation
Skin

• dominance is not an autonomous feature of gene

• it depends on the product of particular trait we choose.
 Three or more gene control a
character

Trait depends on number of

dominant allele

Influence of
Effect of each allele is additive
environment Polygenic
inheritance

• assume= human skin colour

regulated by three gene A, B, C
Example-
• AA BB CC= darkest
• human skin colour
• aa bb cc= laughters
Lightest
• Human height
• Aa Bb Cc = intermediate
• human IQ

• types of phenotype= 2n+ 1

• Types of genotype= 3
• Zygotic combination= 4
 Chromosomal theory of inheritance
• in 1902, Walter Sutton, Theodore boveri noted chromosomal
behaviour is parallel to the factor which was explained by Mendel
• Sutton united the knowledge of chromosome segregation with
Mendelian principal and called it chromosomal theory of inheritance

Thomas Hunt Morgan

• experimental verification of chromosome theory of inheritance
was given by him and his colleagues
• father of experimental genetics
• he worked on fruit Fly- drosophila Milanogaster
Drosophila melanogaster

Why worked on fruit fly?

• short life cycle(approx two weeks)
• Easily grown in simple synthetic medium
• Produce large number of progeny in single mating
• Male and female easily distinguishable
• Hereditary characters easily observed under low power microscope
• 2n=8

6-Autosome 2- sex chromosome

 • he performed dihybrid cross
• F2 ratio derived from 9:3:3:1
• Due to linkage
• Physical association of genes on chromosome

Linkage
• Exception of law of independent assortment
• Physical association of genes on chromosome
• Term linkage was given by TH Morgan
• Linked genes are present on same chromosome at different locus,
but can be separated by crossing over
• More distance, more crossing over, less linkage
• Less distance, less crossing over, more linkage
• Crossing over. 1/linkage.

arrangement of linked genes

CIS/coupling Trans/ repulsion

 Types of linked genes
• loosely linked • tightly linked
• linkage less • linkage more
• Recombination more • Recombination less
• Distance more • Distance less

Linkage
Complete linkage Incomplete linkage
• crossing over does not • crossing over occurs between
occurs between genes genes
• very rare • Common
• Recombinant= 0 • Recombinants are formed
• Parental type= 100% • Parental type> New
combination

Three characters considered by Morgan

• Genes of all characters are present on X chromosome
 Cross A. Cross B
• body colour • eye colour
• Eye colour • Wing size
• Recombination less • Recombination more
• Tightly linked • Loosely linked genes
genes • %R= 37.2%
• %R= 1.3% • %P= 62.8%
• %P= 98.7%

Genetic map
• representation of position of linked genes on a chromosome
• First given by Morgan’s student, Alfred sturtevent
• % recombination = number of recombinant. x 100
total number of progeny
• 1% of recombination=1 map unit/ centimorgan cM
 Sex determination
• Henking in 1891
• Observed spermatogenesis of few insects
• Observed nucleur structure of sperm- 50% X body(+) present
• 50%= X body(-) present
• Letter
Later X body was found to be chromosome( X chromosome)

Male heterogamete Female heterogamete

• sex determination • sex determination depends on
depends on male female
• produce different • Female produce different
types of gametes types of gametes

Haploid diploid mechanism

• number of set of chromosome responsible
• Example- honeybee
n= drone( male)
2n= female Worker Bee

Queen

• Drones do not have father, cannot have son, but have grandfather
and can have grandson
 Mutation
Alteration of DNA that results in change in genotype and phenotype

Chromosomal Change in number Gene

mutation and structure of mutation
chromosome • point mutation= =
change around
single base pair
Structure • Example- sickle cell
Number
• chromosomal aberration- anaemia
• euploidy-
Common in cancer • Deletion and
change
change in set
in whole set ofof
chromosome seen on plants Deletion insertion cause
chromosome
Insertion frame shift
• Aneuploidy-
mutation
change in
chromosome
number in set
gain or loss of a chromosome(s)
Mutagen -mutation inducing factor

Chemical= tobacco Physical= UV rays

 Disorder • down
s
syndrome
Mendelian disorder Chromosomal • klinefelter’s
disorder Syndrome
• Turner
s
Autosomal Sex linked syndrome

Dominant Recessive X linked Y linked

• myotonic • phenylketonuria • hypertrichosis
dystrophy • Sickle cell Dominant Recessive
anaemia • colour blindness
• thalassaemia • Haemophilia
• Albinism
• Cystic fibrosis
 X linked

Dominant Recessive

X+. Xa X+. Xa
Dominant Recessive Dominant Recessive
(disorder) (Disorder)

X+ X+ = diseased X+ X+ = normal
X + Xa = diseased X + Xa = normal, carrier
X a Xa = normal X a Xa = diseased
X +Y = diseased X +Y = normal
Xa Y = normal Xa Y = diseased

Autosomal
Dominant Recessive

A= dominant a= recessive A= dominant = recessive

a=
( disorder) (Disorder)
AA= diseased AA= unaffected
Aa= diseased Aa= unaffected
aa= unaffected aa= diseased

Phenylketonuria
 Autosomal recessive
Gene present on chromosome 11
Hbs- affected
Alleles
HbA- normal

RBC shape Sickle cell HbA HbA - normal

Biconcave. Sickle anaemia HbA HbS - normal / carrier
Hbs HbS - affected

Hb- polymerisation Due to point mutation

under low oxygen tension
GAG change to GUG

Substitution of glutamic acid by valine

in beta globulin chain at sixth position

Quantitative disorder= thalassaemia( autosomal recessive)

Alpha thalassaemia Beta thalassaemia
• gene present on chromosome 16 • Gene present on chromosome
• gene = HbA1 and HbA2 11
• Mutation or deletion of one or • gene= HBB
more gene cause absence of • mutation or deletion of one or
alpha chain or reduce synthesis both gene cause absence of
• due to precipitation of beta chain, beta chain or synthesis
abnormal haemoglobin is formed and • Due to precipitation of alpha
cause RBC to rupture chain, abnormal haemoglobin
is formed, which cause
rupture of RBC
• ultimately, the rupture of RBC cause anaemia
• as there is reduction in number of RBC. This disorder is called
quantitative disorder as quantity is affected.

Defect in red and green

cone of eye

Unable to discriminate
between red and green colour

Colour blindness Due to mutation in certain

genes present on X
chromosome

Walks in about 8% of males and 0.4% of

females as male have one X chromosome and
female has 2
 Single protein that is part of
cascade of proteins, involved in
blood clotting is affected
Death at
embryonic stage

Due to this simple cut will

Haemophilia result in non-stop bleeding

Extremely rare in females

Queen Victoria
The family Pedigree of Queen Victoria
was carrier of
shows many descendants
this disease

Types of haemophilia
Haemophilia A Haemophilia B Haemophilia C
(Factor vIII) (Factor Ix) (Factor xI)

Chromosomal disorder
Presence of additional copy of
21st chromosome( trisomy).
First described by Longdown
down in 1866.

Symptoms
• short stature
Down syndrome
• Small round head
• furrowed tongue
• Partially open mouth
• Broad palm
• Physical psychomotor, and
mental development is
retarded
 Klinefelter’s Turner’s
syndrome syndrome
• additional copy • monosomy due
of X chromosome to absence of one
• Karyotype= 47 of the X
or 44+ xxy chromosome
• overall: • 45 with XO
masculine • Sterile female
development • Rudimentary
• Feminine ovaries
development is • Lack of other
also expressed secondary
• Breast sexual character
development=
gynaecomastia
• Sterile
 Pedigree analysis
• study of family history about inheritance
of particular trait for several generation
• Symbols used in human Pedigree
analysis

Y linked if father is affected, all son should be affected

Elimination method
• if both parents are normal and one child is affected , XD and AD not
possible
• if both parents are affected and anyone child normal, AR and XR not
possible
• XR not possible. Father normal daughter affected.

Mother affected son normal

• XD not possible. Father affected daughter normal.

Mother normal and son is affected

Thank You