PRINCIPLES OF

INHERITANCE &VARIATION

SEX DETERMINATION
SEX DETERMINATION
Autosomes and Sex chromosomes (allosomes)
The chromosomesthat are involved in
sex determination are called sex
chromosomes (allosomes).
They include X & Y chromosomes.
K
Autosomes are chromosomes other than
sex chromosomes.
Number of autosomes is same in males
r 10 11

and females.
13 14 15 16 17 18

9 20 2
autosomes sex chromosomes

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 SEX DETERMINATION
Autosomes and Sex chromosomes (allosomes)

Henking (1891) studied spermatogenesis

in some insects and observed that 50% of
sperm received a nuclear structure after
spermatogenesis, and other 50 % sperm 12

did not receive it.

15 6 17 18
Henking called this structure as theX
body (now it is called as X-chromosome).
.,
autosomes sex chromosomes

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SEX DETERMINATION

XX- XO
Mechanism

Mechanism of sex XX- XY

determination Mechanism

2Z-ZW
Mechanism

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SEX DETERMINATION
Mechanism ofSex Determination 1. XX-XO Mechanism
Here, male is heterogametic, i.e. Xo (Gametes with X and gametes without X) and female is
homogametic, i.e. XX (all gametes are with X-chromosomes).
E.g. Many insects such as grasshopper.

22+ 22+
XO XX

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 SEX DETERMINATION
Mechanism of Sex Determination 2. XX-XY Mechanism
Male is heterogametic (X &Y) and female is homogametic (X only).
E.g.Human &Drosophila. Female Male

Y XX

Ir
X Y

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X X

SEX DETERMINATION

Mechanism of Sex Determination 3.27-ZW Mechanis1n

Male is homogametic (ZZ) and female is heterogametic (Z &W).
E.g. Birds.

z z Z W

XX-XO and XX-XY mechanisms show male heterogamety.

ZZ-ZW mechanism shows female heterogamety.

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SEX DETERMINATION
Sex Determination in Humans (XX-XY type)
44A+XY 44A+ XX
Father Mother
XY XX
Gametes: 2A+x)( 2A*) 22 A+x)

XX XY
XY

44A+ XX 44A+XY

Daughter Daughter Son

Human has 23 pairs of chromosomes (22 pairs of autosomes + 1 pair of sex chromosomes).
A pair of X-chromosomes (XX) is present in female.
X&Y chromosomes (XY) are present in male.
During spermatogenesis, males produce 2 types of gametes- 50% with X chromosome and
50% with Y chromosome. Females produce only ovum with an X-chromosome.

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 SEX DETERMINATION
Sex Determination in Humans (XX-XY type)
Father
44A +XY 44A+XX
Mother
XY XX Gametes: 2A+x) (DA+")
ZA
X Y
A XY
44A + XX 44A + XY

Daughter Son Daughter Son

There is an equal probability of fertilization of ovum with the sperm carrying

either X or Y chromosome.

The sperm determines whether the offspring male or female.

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SEX DETERMINATION
Sex Determination in Honeybee

Queen Drone
(n) I t is based on the number of sets of chromosomes an
(2n)
individual receives.
Fertilised egg develops as a female (queen orworker).
An unfertilised egg develops as a male (drone). It is
Drone
(n)
Workers called parthenogenesis.
(2n)
Therefore, the females are diploid (32 chromosomes)
and males are haploid (16 chromosomes). This is
Parents: Female (32) Male (16) called haplodiploid sex determination system.
.Mitosis I n this system, the males produce sperms by mitosis.
Meiosis
They do not have father and thus cannot have sons,
Gametes:16 16) 16 but have a grandfather and can have grandsons.
F1: Male (16) Female (32)

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MUTATION
 MUTATION
It is a sudden heritable change occurring in DNA
sequences that results changes in the genotype
and the phenotype of an organism.
Recombination and mutation leads to variation in
DNA.

Point
mutation
Types of
mutation
Frame shift
mutation

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MUTATION POINT MUTATION

.It is the mutation due to

change in a single base
pair of DNA.
Original
sequence |HH
E.g. sickle cell anaemia. Point mutation

Point mutations
No mutation
Silent Nonsense Missense
COrnservate ocorservalve

NNAIlevel TTC TTT ATC TCC TGC

mRNAleve AAG AAA UAG AGG ACG
Lys STOP Arg Thr
protein level Lys

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FRAME SHIFT MUTATION

MUTATION
Point mutation versus frameshift Deletion Inversion
Normal Substitution Insertion
Reading trame Normal nuckectide sequence
taie

CATCATCATCATCATCATCAT
OO
Pont mdation D
CATGATCATCATCATCATCAT
on New reading irame
Truncated
BEATS
prolein product
BEAST FEAST BREAST BEST
CATCA CATCATCATCATCAT
Derged reading frame

I t is the deletion or insertion of base pairs resulting in the shifting of DNA

sequences.
DNA segment
or gain (insertion/ duplication) of
cause
Loss (deletion)
Chromosomal abnormalities (aberrations).
Chromosomal aberrations are seen in cancer cells.

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MUTATION MUTAGENS

Mutagens are the agents that induce mutation.

Types of mutagens

Physical Chemical
mutagenss mutagens
UV radiation, Mustard gas, phenol,
a, B, y rays, formalin, acetic acid,
X-ray etc formic acid, NH, etc.

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PEDICRDB ANNTYSS3
PEDIGREE ANAL YSIS

I n human, control crosses are not possible. So the study offamily history about inheritance is
used.
Such an analysis ofgenetic traits in several generations of a family is called pedigree analysis.
The representation or chart showing family history is called family tree (pedigree).
I n human genetics, pedigree study is utilized to trace the inheritance of a specific trait,
abnormality or disease.
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 PEDIGREE ANALYSIS
SYMBOLS USED IN PEDIGREE ANALYSIS

Male Mating blw relatives

(consanguineous mating)
Female
Parents above & O
children below
Sex unspecified
Parents with affected
Affected individuals male child

Mating Five unaffected offspring

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PRINCIPLES OF
INHERITANCE&VARIATION

GENETIC DISORDERS
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GENETIC DISORDERS
Genetic disorders are the
disorders due to change in genes GENETIC DISORDERS
or chromosomes.

Mendelian disorders Chromosomal disorders

Sickle cell Down's Klinefelter's

Haemophilia
anaemia syndrome syndrome

Z Colour
blindness
Phenyl
ketonuria
Turner's
syndrome

Thalassemia
Cystic
fibrosis
GENETIC DISORDERS Mendelian Disorders

The disorders caused by alteration or

mutation in the single gene.
E.g. Haemophilia, Colour blindness,
Sickle-cell anaemia, Phenylketonuria,
Thalassemia, Cystic fibrosis etc.
The pattern ofinheritance of
Mendelian disorders can be traced in a
family by pedigree analysis.
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GENETIC DISORDERS Mendelian Disorders

Pedigree analysis of
Autosomal
Mendelian disorders dominant trait
may be dominant or (E.g. Myotonic
recessive. dystrophy)
Pedigree analysis
helps to understand
whether the trait is Pedigree analysis of
dominant or Autosomal
recessive trait
recessive.
(E.g. Sickle-cell
anaemia)

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GENETIC DISORDERS Mendelian Disorders

Haemophilia (Royal Disease)
Sex linked (X-linked) recessive disease.
In this, a protein involved in the blood clotting is affected.
A simple cut results in non-stop bleeding.
I t is controlled by a pair of allele, H &h.
H is normal allele and h is responsiblefor haemophilia.

XHx Normal female

Heterozygous female (carrier). She may transmit
Xxh
the disease to sons.
xhx |Hemophilicfemale
XHY Normal male
xhY Hemophilic male
 GENETIC DISORDERRS Mendelian Disorders
Haemophilia (Royal Disease)
In females, haemophilia is very rare because it happens only when mother is at least
carrier and father haemophilic (unviable in the later stage of life).
m l fenl
ince Abet

amer leme

ohlik mee

O
eard V Lecpold eatrice

pana

Queen Victoria was a carrier Alens Hey pert Onio

of hemophilia. So her family

Buaben
pedigree shows many
haemophilic descendants.

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GENETIC DISORDERRS Mendelian Disorders

Colour blindness
I t is a sex-linked (X-linked) recessive disorder due to defect in either red orgreen cone of
eye. It results in failure to discriminate between red and green colour.
I t is due to mutation in some genes in X chromosome.
I t occurs in 8% of males and only 0.4% of females. This is due to the genes are X-linked.

Normal
color
VIsion
Can you read the
number in this
figure? If no, you
may have
Color
blindness

A bankofbiology.com
colorblindness.

|GENETIC DISORDERS Mendelian Disorders

Colour blindness

Carrier woman Nomal man Carrier woman Colorblind man

Normal allele is dominant (C).

Recessive allele (c) causes
colour blindness.
The son of a heterozygous

Ii i i woman (carrier, XX°) has a 50%

chance of being colour blind.
A daughter will be colour blind

Nomal9 Camier 9
/
Nomal d Colorblind d Carmier Colorblind 9 Normal d Colorblind ß
only when mother is at least a
carrier and father is colour
blind (XY).
Inheritance of colorblindness
GENETIC DISORDERS Mendelian Disorders
Sickle cell anaemia

This is an autosome linked recessive trait.

I t can be transmitted from parents to the offspring
Reo Diood cells when both the partners are carrier (heterozygous) for
thegene.
The disease is controlled by a pair ofallele, HbA & HbS.

Homozygous dominant (Hb*Hb^): Normal

Heterozygous (Hb'Hb'); Carrier; sickle cell trait
Homozygous recessive (HbSHbS): Affected.

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GENETIC DISORDERS Mendelian Disorders

Sickle cell anaemia
The defect is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the 6th
position of the B-globin chain of haemoglobin
This is due to single base substitution at the 6th codon of B-globin gene from GAG to GUG.

Hb A peptide (normal)

3 7
CAC hr Pro Glu Glu
val
Normal Hb (Algene Sickle-cel HbESI REHeGTG
GAG

mRNA GAG mRNA GG

Val
Val His
Leu Thr Pro

2 34 5 6 7 12 3 5 6 7 Hb S peptide (affected)
HHS peptiede
HHA peptide

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|GENETIC DISORDERS Mendelian Disorders

Sickle cell anaemia
Normal Cell Sickle Cell
ickle
cells

Red blood cells Normal Abnormal

Hemoglobin Hemoglobin

Blockage

The mutant haemoglobin undergoes polymerization

molecule
the change in shape of the
under low oxygen tension causing
sickle like structure.
RBC from biconcave disc to elongated
GENETIC DISORDERS Mendelian Disorders
Phenylketonuria (PKU)
An inborn error of metabolism. In normal person In PKU patient
Autosomal recessive trait. Dietary protein Phenylalanine
I t is due to mutation in the gene
that codes for the enzyme phenyl
PhenyJalanine
hyd6ylase
alanine hydroxylase. This enzyme Phenylalanine Phenylpyruvic acid
converts an amino acid
Phenylalanine
phenylalanine into tyrosine. hydoxylase
The affected individual lacks this Tyrosine
enzyme. As a result, phenylalanine
accumulates and converts into pku
phenyl pyruvic acid and other Melanin, proteins,
derivatives. dopamine

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GENETIC DISORDERS| Mendelian Disorders

Phenylketonuria (PKU)

neffected Jnafi
C t e d

rrier"
Phenyl pyruvic acid and Father Mother

other derivatives accumulate

in brain resulting in mental
retardation. These are also
excreted through urine
because of poor absorption
by kidney.

Unatected Afected

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GENETIC DISORDERs Mendelian Disorders

Thalassemia
I t is an autosome-linked recessive blood
disease.
I t is transmitted from unaffected carrier
(heterozygous) parents to the offspring.
I t is due to mutation ordeletion.
I t results in reduced synthesis of one of
the a or p globin chains of haemoglobin.
It forms abnormal haemoglobin and
causes anaemia.

Thalassemia is a quantitative problem (synthesis of few globin molecules).

Sickle cell anaemia is a qualitative problem (synthesis of an incorrectly functioning globin).
GENETIC DISORDERS Mendelian Disorders
Thalassemia
Based on the chain affected, thalassemia is two types: a thalassemia and B thalassemia.

a Thalassemia HBA1 HBA2

Chromosome
Here, production of a globin chain is HBA1 HBA2 16
affected.
I t is controlled by two closely linked genes ron
9roup
HBA1& HBA2 on chromosome 16 of each chain

parent
Mutation or deletion of one or more of the
four genes causes the disease.
red blood cell
The more genes affected, the less a globin 3 chain 1 chain

molecules produced. helical shape of the

Haemoglobin polypeptide molecule

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GENETIC DISORDERS Mendelian Disorders

Thalassemia

HBB
Chromosome
BThalassemia HBB 11
Here, production of B globin chain is me

aroup
affected. a chain pchaln

It is controlled by a single gene HBB

on chromosome 11 of each parent.
Mutation of one or both the genes
red blood cell
causes the disease. p chain chain
helical shape of the
Haemoglobin polypeptide molecule

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CHROMOSOMAL
A DISORDERS
GENETIC DISORDERS Chromosomal Disorders

The disorders caused due to absence or excess or

abnormal arrangement of one or more chromosomes.

Aneuploidy
Chromosomal
disorders
Polyploidy

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GENETIC DIsORDERS Chromosomal Disorders

It is the gain or loss of chromosomes due to failure of
Aneuploidy
segregation of chromatids during cell division.

A Normal ploidy
iploid

Meiosis Aneuploidy
Nullisomic
(N

Doubiy
mic
(2N- 1 -
1)

risomic
(2N 1)
Meiosis ll
TotranomiC

Doubly
telrasomic
N N N N N+1 N N-1 N

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GENETIC DISORDERS Chromosomal Disorders

It is an increase in a whole set of chromosomes due to failure
Polyploidy of cytokinesis after telophase stage of cell division.
(Euploidy) This is very rare in human but often seen in plants.
Haploid (N) Diploid (2N)

Parent Species Zygote

Self
Meiotic error
fertilisation
Triploid (3N) Tetraploid (4N)

2n 6 4n 12
Diploid Tetraploid
Unreduced
gametes

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 GENETIC DISORDERS Chromosomal Disorders
Down's syndrome
It is the presence of an additional copy of chromosome number 21 (trisomy of 21).
Genetic constitution: 45 A + XX or 45 A+XY (i.e. 47 chromosomes).

K 11 12

13 14 15 6 17 18

19 20 21 22 X Y

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GENETIC DISORDERS Chromosomal Disorders

Down's syndrome FeaturesS
Short statured with small round
head.
Broad flat face.
Furrowed big tongue & partially
open mouth.

Broad palm with characteristic

palm simian crease. rufe oeput

Many "loops" on finger tips. DUa syndrome

Retarded physical, psychomotor

&mental development.
Congenitalheart disease.
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GENETIC DISORDERS Chromosomal Disorders

Klinefelter's syndrome
It is the presence of an additional copy of X-chromosome in male.
Genetic constitution:44 A + XXY (i.e. 47 chromosomes).
Slightly feminized phywig
Frontal baldness
bsent
oor beard
Breast
Tendency to lose - Less body enlargement
-Breast
developinen hair
5 9
Female t

a Testicular
pattern Brophy

13 14 15 16 1718

Karyotype of Klinefelter Syndrome

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 GENETIC DISORDERS Chromosomal Disorders
Klnefelter's syndrome Features
Slightly feminized physique
-Frontal baldness
absent
Poor beard
growth Breast
Overall masculine Tendency to lose
chest hair sreast Less body enlargement
development. However, developrment
hair
feminine development
is also expressed. E.g. Female type-
pubis ha
development of breast pattern
Testicular
atrophy
(Gynaecomastia).
Sterile
Mentally retarded.

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GENETIC DISORDERS Chromosomal Disorders

Uumer's syndrome9
It is the absence of one Xchromosome in female.
Genetic constitution: 44 A + X0 (i.e. 45 chromosomes).

XNKK 89 10 11 12

X
13 14 15 16 8

19 20 21 22

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GENETIC DISORDERs Chromosomal Disorders

Turner's syndrome FeaturesS
Short tature
Characteristic
tacial features
Low hairline- Fold of skin

Constriction
Sterile, Ovaries are Shield-shaped-
thorax
of aorta
Poor bbreast
rudimentary. Widely spaced-
nipples
development

Shortened Elbow
Lack of other secondary metacarpal i
delormity

sexual characters. Small Rudimentary

fingernais ovanes
Gonadal streak
Dwarf.
Mentally retarded. Brown spots (nevi)
No menstruation