-

As-12th

OF
PRINCIPAL
-

un

& VARIATION
INHE RITANCE me
me

Notes by
-

ITanwar
Akihita m
we
 IMPORTANT TERMS

• Genetics: Study of inheritance, heredity & variation of characters or Study of genes &
chromosomes.
- The term genetics was coined by Bateson (1906)
-Basic principles of genetics were discovered by Gregor John Mendel (1822-84) - so
he is called father of genetics.

• Inheritance/ heredity : is the process by which characters are passed on from parent
to progeny.

• Variation: is the degree by which progeny differ from their parents.

(Difference between parents and offspring).

• Character: A heritable feature among the parents & offspring. E.g. Eye colour.

• Trait: Variants of a character. E.g. Brown eye, Blue eye.

. Genes : Are the unit of inheritance.

~ They contain the info. that is required to express a particular trait in an organism.
~ genes which code for pair of contrasting traits are known as Allele.

• Allele: Alternative forms of a gene. E.g. T (tall) & t (dwarf) are two alleles of a gene
for the character height.
• Homozygous: The condition in which chromosome pair carries similar alleles of a
gene pair . Also known as (pure / True breeding). E.g. TT, tt, YY, yy etc.
• Heterozygous: The condition in which chromosome pair carries dissimilar alleles of a
gene pair. Also known as HYBRID. E.g. Tt, Yy etc.

• Hybrid: An individual produced by the mating of genetically unlike parents.

• Dominant character: The character which is expressed in heterozygous condition.

It indicates with capital letter.

• Recessive character: The character which is suppressed in heterozygous condition.

It indicates with small letter.

• Phenotype: Represent the morphological / Physical appearance of a character or

organism . Ex- Tall, dwarf, white, pink etc.
terms were given By Thomson
* Both Phenotype & Genotype
.

• Genotype: Represent Genetic constituent of a character or organism.

Ex- Tt, TT, tt etc.
 MENDEL’S LAWS OF INHERITANCE

~ Gregor Mendel is the Father of genetics.

~ Was born in Austria.
~ He conducted some hybridization experiments on garden peas (Pisum sativum) for
7 years (1856-1863) & proposed the Law of inheritance in living organism.

Mendel selected pea plant for his experiments. Because of following reasons :-

~ Pea plant is small, easily to grow & mature within 2-3 months.
~ Pea plant is bisexual ( self- pollinating ) in nature & can be cross pollinated for
experiment.
~ Garden pea produces a large no. Of offsprings .
~ A large no. Of True breeding varieties of pea plant were available.
~ The plant produces fertile hybrids.
~ The pea plant show easily visible characters.

Mendel picked up 34 varieties for his experiment & selected only 7 varieties showing
7 visible of characters (each having contrasting traits) = total 14

NEET- 2017
Q. Steps were involved in mendels experiment making a cross in pea ?
§ Selection of parents
§ Emasculation: Removal of anthers of one plant to avoid self-pollination.
§ Pollination: Collection of pollen grains from the male parent & transferring
to female parent.
§ Collection & germination : of seeds to produce offspring.
 INHERITANCE OF ONE GENE
Monohybrid cross: The cross which deals with inheritance of single characters with
its two contrasting traits.
Ex- Mendel crossed tall & dwarf pea plants to study the inheritance of one gene.

Parents Tall Plant Dwarf plant

TT tt

Homozygous Tall Homozygous Dwarf

Gametes I t

Filial
Progeny
⑦ generation it [Tall]
[First Hybrid Generation]
It X It
selfing
Gametes T t It

T T
Fe
generation TT
(second Hybrid Generation] t
t
it
Tt

t t

phenotypic ratio: Twall ·

Dwarf
3 e 1

genotypic ratio: TT : it : It
1 · 2 - 1

Homozygous Heterozygous Homozygou

 # Why used T for tall & t for dwarf ?
Do not use T for tall and d for dwarf because it is difficult to remember whether T &
-
d are alleles of same gene or not.

sais
experimentmen
# On theofhis concludedaction parents)
del t e
next generation (offspring] He called them immtors .

Now , these unit factors are known as -word wined by Thouson 1909
↓

occur in a linear sequence on a chromosome .

Punnett square
-
It is a checker board/square to
find out the
probability of
possible genotypes of offspring
in
all a
genetic cross .

developed by British Geneticist

It was
Reginald C Punnet Net-21
-
.

, .

[R .
C .

Punnet]
it x

y Y

* Test cross is used to find out the unknown genotype of a character.

~ Test cross: It is a cross made blw organism showing dominant
phenotype Homozygous recessive organism to find out
↑

to
the

dominant
genotype of
R

phenotype
II Homozyous
.

Ex-
violet -
homozygous
Recenive
<II Wh unknown
ww
I Recessive

I
e
⑮s
W w

Result % volet
-
50
-
-

I
All flowers are WWWW W Www wa
violet
Wh
I Ww? 50 % white

unknown flower
WW WW W Genotype
WW
nowyww unknown flower
Ww
:

Homozygous Dominant 2
:

2 Heterozygous
& Why Mendel conducted test cross ?
A Mendel conducted test cross to determine the F2 genotype.

~ Backcross : It is a cross made blw Hybrid on

of its parents .

⑦ Back crosses made re-introduce all the

are to
good
characters of
original variety .

inheritance
in

~ Reciprocal Cross : The pattern of which cross

after exchanging known

the sexes
made
of parents
is is as

Reciprocal S -

Ex-I tt x TTo OTT x +t &

Tt Tt

Mendel’s Principles or Laws of Inheritance

1. First Law (Law of Dominance) (A substance takes part

§ Characters are controlled by discrete units called factors. in process]
§ Factors occur in pairs. separate eX-TT tt ,

§ In a dissimilar pair of factors, one member of the pair dominates (dominant) the
other (recessive).

2. Second Law (Law of Segregation)/ universal law of segregation .

~ This law is based on the fact that the characters / allele present on an
organism do not show any blending (mixing ) generation after generation,
but remain distinct & segregate from each other at the time of gamete
formation (meiosis) , so that a gamete receives only one form pair of factors.
• so gamete are always pure.

ex-A that are similar

Homozygous parent produces
TT
gameter .

meiosis

T T
 Ex- A
Heterozygous
Parent Producesattaches of gametes each
having one

It

T t

Incomplete Dominance Discovered by

-

Comens

- It is an inheritance in which heterozygous offspring shows intermediate character

I

b/w two parental characteristics. (diff/irregular]

&
-

- E.g. Flower colour in snapdragon (dog flower or Antirrhinum sp.) & Mirabilis
&

jalapa (4’O clock plant).

·
Parents Rec flower white flower
RR 88
↓ ↓
cametes R 8

Fl Generation R2 [All Pink]

R2 X R8
selfing z
Gametes R 5 R

R 8
Fa Generation

R
128
[pink]
Ru wo
8 (Pink] <white]

Here, cross between homozygous red & white produces pink flowered plant.
Thus phenotypic & genotypic rati os are same. -

-
This means that R was not completely
Phenotypic ratio = Red: Pink : White dominant over r.
1 : 2. : 1 - Pea plants also show incomplete
Genotypic ratio = RR : Rr : rr dominance in other traits.
1 :2 :1

~ In incomplete dominance both phenotypic & genotypes ratio are same

CONSEPT OF DOMINANCE
contains
information expression of particular character
-

Gene about the .

Diploid organism Have two copies of each each

Homologous chromosome
-

on
gene .

alleles
They
-

are called .

The two alleles be similar dissimilar The disimilarities appear due to

-

or
may .

(changes gene]
in

mutation

In allele which
express itself modified allele
Heterozygous condition fails to is
-

,
the .

use
e

Recessive
and its
information also is
modified .

The othere allele called normal allele

unmodified allele which Dominant
-

is or is .

enzyme (protein) functional for particular

allele
The
unmodified produces trait
-
an .

Modified allele is responsible for production of

(i) Normal/less efficient enzyme or
(ii) A non-functional enzyme or
(iii) No enzyme at all

In the first case: The modified allele will produce the same phenotype like unmodified
allele. Thus, modified allele is equivalent to unmodified allele.

In 2nd and 3rd cases: The phenotype will dependent only on the functioning of the
unmodified allele. Thus the modified allele becomes recessive.

Co-dominance
which both the alleles
inheritance
The disimilar
-

pattern of in of a
Gene pair
Heterozygous
independently

expresses themselves in condition .

The with both

progeny of generation resembles
-

te the parents .

E.g. ABO blood grouping inhuman.

- ABO blood groups are controlled by the gene I.
- This gene controls the production of sugar polymers (antigens) that protrude from
plasma membrane of RBC. (stick)
- The gene I has three alleles IA IB I
Is=
- IA and produce a slightly different form of the sugar while allele Ii doesn’t
produce any sugar.
 Humans diploid organism only two alleles present
-

are ,
so are at a

time out
of Three .

~ When IA and IB are present together, they both express their own types of
sugars. This is due to co-dominance & produces blood group AB .
~ Total 6
geotypes are possible .

~
Total 4
Phenotypes are possible .

~ Blood
Group A represents Co-dominance .

3. Multiple alleles

- It is the presence of more than two alleles of a gene to govern/ control same
character , then the allele called multiple alleles .

Allele 1
Alleled
CHARACTERS

Allele 2
Allen
Allek?
- E.g.ABO blood grouping in human controlled by 3 alleles .
- In an individual, only two alleles are present. Multiple alleles can be found only in
a population.
~ Eye Color of drosophila is controlled by 15 alleles .
~ Coat pigment in rabbit is controlled by 4 alleles.
 INHERITANCE OF TWO GENES

Dihybrid cross: The cross which deals with inheritance of two characters with its
two contrasting traits.
-

Mendel crossed pea plants which

differ in two characters .

1 seed shape -
(Round /RR)] ,
(Wrinkled (52)]

2 . Seed colour -Yellow (YY)] ,

Laren (yy))
Parent Round Yellow Wrinkled Green
RRYY ~ryy

Gametes RY
ry
Fl Generation
RWYy (Round yellow]

selfing RWYY X
RWYY

Yiin "
·Many 9

Genotypic Ratio-RRYY : RWYY RRYy :

yellow

Yy

3 :

RWYYy
4
3
Round

Round

WorxY
· 1
Yy
yellow

:
:

No Y
2
1

y: RRYY : RuYY : WYY

 Total possible phenotypes
-
9

Total possible Genotypes -

4

phenotypic dihybrid
# The much similar to the Ratio
ratio in cross is
Phenotypic
of monohybrid cross
if we consider each character
separately .

1) seed Colour -

Yellow - 97 3: 12
Green- 3+ 1 : 4

yellow : Green
12 : 4
3 · I

2) Seed shape -

Round -

9 + 3:12

wrinkled -
3 + 1 =
4

Round Wrinkled
:

12 "
4

3 · I

Mendel’s 3rd Law: Law of Independent Assortment

- It is based on the results of dihybrid crosses.
-It states that “When two pairs of traits are combined in a hybrid,
segregation of one pair of characters is independent of the other pair of characters”.

Mendel published His work intritance characters

of but
~

on in 1865 .

for several reasons it

unrecognised till 1900 .

3Marks

Reason for unrecognised of Mendel's work-

1
Lack of Communication Mendel's work could not be widely
.
-

published due to

lack of Communication .
2 . Mendel's concept of factors [Genel -
was not accepted by his experiment
because his Mendel has for existence
concept was new a no
physical proof
of factors .

explain which
3 . Mendel used Mathematics
at that time
to
biological phenomenon was not

accepted .

In 1900 , three scientists (de vies , I mak

-

re-discovered the Mendel's results

independently on inheritance
of
characters .

Due to advancement in microscopy ,

scientists were able to
in carefully
observe cell division This led the
discovery of structures the Nucleus
that

.
to

called chromosome
appeared to double divide
just before each all division These
. were

CHROMOSOMAL THEORY OF INHERITANCE (1902)

- Proposed by Walter Sutton & Theodore Boveri.
- They noted that the behaviour of chromosomes was parallel to the behaviour of genes
& used chromosomes movement to explain mendel’s law.

I-I
CHROMOSOME GENE

in Pairs .
-

occurs in Pairs .

segregate at the time of gamete-segregate at the time of Gamete

-

formation such that

only one
of formation & only one
of each

pair transmitted to transmitted

each is
gante pair is to
ganute .

Independent pairssegregate OnepalSegregatenote inte

-

↑
§ Chromosomes are vehicles of heredity.
§ Two identical chromosomes form a homologous pair.
§ Homologous pair segregates during gamete formation.
§ Independent pairs segregate independently of each other.
Genes (factors) are present on chromosomes. Hence genes and chromosomes show
similar behaviours.

Experimental proof By-Morgan [Also known

Genetics &
/ at ther of
bely Mental
Thomas Hunt Morgan proved chromosomal theory of inheritance using fruit flies /
banana fly/ mango fly (Drosophila melanogaster). [Jackpot of Genetics

& Why fruit fly ?

It is the suitable material for genetic study because,
• They can grow on simple synthetic medium.
• Short generation time (life cycle: 12-14 days).
• Breeding can be done throughout the year.
• Hundreds of progenies per mating.
• Male & female flies are easily distinguishable. E.g. Male is smaller than female.
• It has many types of hereditary variations that can be seen
with low power microscopes.

Male Female
 LINKAGE

i
Genes
-

linked The Genes which

-

Genes same chromosome

are
present
-

on l
-

Have
tendency
to stay together called
linkage .

Ei
Bateson Punnett
The work on
linkage is Done
by &
-

for exp used Sweet Pea .

-

Experimentall proof by - Morgan

for exp used fruit fly
-

.
.

⑱ linked can be separated by the process called

crossing
genes
-
over

a A a

B I B b

C C C C

D d D d

E C 2 E

crossing

linkage Group-the Genes which

on romoge
are present
-
here
tendency to stay together aroup .

Haploid no ·

of chir-Total no
of Humans
in an
organism linkage grou ! I

of
I

male
I
2x- Pisum Female
Haploid no= I
-

also=7
So
linkage group is 44 + xy 46 (n 44 + XX 46
=

2n
= =
=

,
n
=

22 + x &Y = 24 n
=

22 + x =
23

Linkage Group :
24 Linkage Group = 23

Dusophila -
Haploid no : 4
So also =4
,
unkage group is

Rise -
Haploid no=12
also =12
So
linkage group
, is
 Tycer of
Linkage
Incomplete linkage complete Linkage
A a
-
Cross-over Absent
A a A a

B I B b B
-completely linked
Genes .

C c C C C
- C

D d D d D d

I C
E C 2 E

crossing Incomplete

MorganiDo n
over
Linked Genes on

Female (A) male (ot] fruit fly -> u = 4

2n =
8

(XX) (XY) ↓
-

↓
Komomorphic Heteromorphic 6-somatic 2- sex chromosome/
[Autosomes] Allosome/Idiosome
Representation I
Heterosome

#
morgan
·
winnegei
Did 3
dihybrid cross-Istcross blw Body colour & Eye colour .

Ind cross byw Eye colour &

wing Size
-

#rd Cross byw

Body Colour & Wing size
-

select parents for cross

Morgan
# are -

I -
Parent
Homozygous
Recessive
letter
gous t
-
Ist cross blw Body colour Eye colour .

Parents yellow, white Brown Red

,

x
Y w
X
yt not

X Y
y w

s yt nt
Gamete

i
w
y wi
FI Generation

It at

(Wild) Brown
,
Red
(I) yellow, white (ot)

notkarentinene
cameter y
a

yt w

Yellow White Brown Red 'ellow Red

/ Brown white

I
me ene
m
Indemnation

y y

yellow white Brown Red yellow Red Brown white

[Body] [tye]
-

RECOMINANTS
PARENTAL
>
98 7 % .

1 3%
.
 & III
I

& It
I

# & II

P =

98 7 % .

P =

62 8 % .

P =

61 .

3%
R= 1 3% .

R
=

37 2 % -

R =
38 5%.

Both
Tightly Linked Genes are
loosely linked Gene

⑪MOSOMAL
MAPPING
Disc-Alfred Sturtevant (student
of Morgan)
-

Alfred Sturtevant used the recombination frequency between gene pairs for measuring the
distance between genes and ‘mapped’ their position on the chromosome.

Genetic maps are used as a starting point in the sequencing of genomes.

E.g. Human Genome Project.
->
If Distance blw >More > Morey of Recombinant
2
genese is Move
bossing
over

#
Distance b/w Gene

11R M (antiMorgan)/nit
=

use in
Eukaryotes use in
prokaryotes
& III
I

& It
I

# & II

Nt yt
-

P 98 7/yt P P
=

62 8 % 61 3%
. =
=
. .

R =
1 3% wh
.

R = 37 2 % m+-

R =
38 5%
.

mt

1 32M
.

1
37 -

2cM
not
yt mt
⑧
& &

38 5 CM .
Q. Write down the recombination of white eye & yellow , white eye & miniature wing ?
§ Genes of white eye & yellow body were tightly linked & showed 1.3% recombination.
§ Genes of white eye & miniature wing were loosely linked & showed 37.2%
recombination.

Polygenic inheritance
- It is the inheritance in which some traits are controlled by several genes (multiple genes).

- E.g.human skin colour,human height etc.

- In a polygenic trait,the phenotype reflects the contribution of each allele, i.e., the effect
of each allele is additive.

Human skin colour:

- Assume that 3 genes A, B, C control human skin colour.

~ Dominant forms A, B & C responsible for dark skin colour.

~ Recessive forms a, b & c for light skin colour.

- Genotype with all the dominant alleles (AABBCC) gives darkest skin colour.

- Genotype with all the recessive alleles (aabbcc) gives lightest skin colour.

Therefore, genotype with 3 dominant alleles and 3 recessive alleles gives an intermediate
skin colour.

Pleiotropy
-Here, a single gene exhibits multiple phenotypic expressions. Such a gene is called
pleiotropic gene.

- In most cases, the mechanism of pleiotropy is the effect of a gene on metabolic pathways
which contributes towards different phenotypes.

- E.g. Phenylketonuria, occurs in human, this disease caused by mutation in the gene that
codes for the enzyme phenyl alanine hydroxylase (single gene mutation).

- phenotypic expression of Phenylketonuria causes mental retardation, reduction in hair

and skin pigmentation.
 SEX DETERMINATION -

- Henking (1891) observed that 50 % of sperm received a nuclear structure after

spermatogenesis, and other 50 % sperm did not receive it.

-Henking called this structure as the X body ; but he was unable to explain significance of
this X body.

- Later on other scientists find that this X body was a chromosome & named it
X - chromosome. ( plays an important role in sex determination )

TYPES OF CHROMOSOMES

I. Sex chromosome / Allosomes :-

-The chromosomes that are involved in sex determination are called sex chromosomes
(allosomes). They include X Y MALE
X X FEMALE

II. Autosomal chromosomes / Autosomes :-

-The chromosomes other that sex chromosomes which regulates somatic traits of an
organism are called Autosomes.

ON THE BASIS OF SEX CHROMOSOMES, THE ORGANISMS ARE O F TWO TYPES :-

I
HOMO-GAMETIC HETERO-GAMETIC
-The organisms having identical sex -The organisms having dissimilar sex
chromosomes & produce same types of chromosomes & produce two types of
gametes . gametes .
Ex- XX chromosomes Ex- XY chromosomes
~ females of human beings (mammals) ~ males of human beings ( mammals)
~ males of fishes, birds, reptiles etc. ~ females of fishes, birds, reptiles etc.
 A . XX-XY
~ This
type of sex-determination is found in Mammals some insects
including
fruitfly [Dowsophila]

uns the female s mic with twomilar

is some**

gane chromosome e

Parents Female Male of

XX X Y

Garnetes X X X Y

CLOSS

X *
X x
X
progeny + 2 Males xY 50 %
X-
=

I xY
2 Females xx =

50 %
xY

B .
XX-XO
This type of Sexdetermination Occurs in Round wome , Grashhopper , Cockroaches .

meltc
The
females of XX
are produce panettebe
a
game
us are see

The Male
game
xo
gameter
me .

Parents of Male
XX X O

Garnetes X X ⑧
X S

CLOSS

/ X

*
X
progeny 2 Males x 50 %
x
=

X X
2 Females xx =

50 %
C 2W-2Z
.

This sex-determination
type
of occurs in Birds , some
Reptile .

me The females are

Heterogametic with two diff
e n me
sex chromosomes zW .

me The Male are

Homogametic with
- nee
same two sex chromosomes 22 .

Parents Female Male o

-
2 W 22
-

Garnetes & W 2 ②
I

CLOSS

w
7
22 2 Males 50 %
progeny
22 =

z
zW
= z 2 Females zW =

50 %

zW

3 .
20-22
in

This of sex-determination butterflies

type occure some & Mothe .

The females Heterogenetic types of gametes

me
are
we me produces two .

The Male
Amogames produce same
of gametes
us

types
are

Parents Female Male o

-
2 22
-

Garnetes &
S
2 -
2
I

CLOSS

Z
22 2 Males 50 %
progeny
22 =

z
Z
22 2 Females z
=

50%

I
 SEx BETERMINATION IN HONEYBEE [RAPLO-DIPLOIDY]
The determination
Honeybee based of of
~ sex in is on the no sets

chromosomes an individual receives .

- Fertilised egg develops as a female (queen or worker).

- An unfertilised egg develops as a male (drone). It is called parthenogenesis.

- Therefore, the females are diploid (32 chromosomes)

The males are haploid (16 chromosomes).

-This is called as haplodiploid sex determination system.

- In this system, female produce eggs by meiosis.

-The males produce sperms by mitosis.

-They do not have father and thus cannot have sons.

Male (haploid) Female (Diploid]

n =
16 2n =

32

W V

Mitosis Meiosis
↓ W

Sperm (n 10] =

fertilization ovum (n 16]

=

Female

(2u =
32] V

Parthenogenesis
↓
Male (n 10]
=
MUTATION
It is a sudden heritable change in DNA sequences resulting in changes in the
genotype and the phenotype of an organism.

The base sequence of DNA may change either in. :-

~ Deletion of a segment of DNA (loss/ deficiency).
~ Insertion of a segment of DNA (gain).
~ Duplication of a segment of DNA (gain).
~ Inversion of a segment of DNA .
-

Alternation change of DNA segment cause Chromosomal abnormalities (aberrations).

-

• Chromosomal aberrations are seen in cancer cells.

Mutation is 2 types:
Point mutation: The mutation due to change (substitution) in a single base pair of DNA.
E.g. sickle cell anaemia.
Frame-shift mutation: It is the deletion or insertion of base pairs resulting in the
shifting of DNA sequences. E.g. change in somatic traits.

• The agents which induce mutation are called mutagens.

They include
- Physical mutagens: UV radiation, α, β,γ rays, X-ray etc.
- Chemical mutagens: Mustard gas, phenol, formalin etc.

PEDIGREE ANALYSIS
An analysis of genetic traits in several generations of a family is called
pedigree analysis.

- The representation or chart showing family history is called family tree (pedigree).
- In human genetics,pedigree study is utilized to trace the inheritance of a specific trait,
abnormality or disease.
-

-
 GENETIC DISORDERS
The disorders due to change in genes or chromosomes.
2 types: Mendelian disorders & Chromosomal disorders.

1.Mendelian Disorders
• It is caused by alteration or mutation in the single gene.
• E.g. Haemophilia, Colour blindness, Sickle-cell-anaemia, Phenylketonuria,
Thalassemia.
• The pattern of inheritance of Mendelian disorders can be traced in a family by the
pedigree analysis.
• Mendelian disorders may be dominant or recessive.
• Pedigree analysis helps to understand whether the trait is dominant or recessive.

Haemophilia (Royal disease):

• It is a 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.

• The disease is controlled by 2 alleles, H & h. H is normal allele & h is responsible

for haemophilia.

~ haemophilia only occurs in males while females are only carriers .

• Queen Victoria was a carrier of hemophilia. So her family pedigree shows
many haemophilic descendants.
Colour blindness:
• It is a sex-linked (X-linked) recessive disorder due to defect in either red or
green cone of eye.
• It results in failure to discriminate between red and green colour.
• It is due to mutation in some genes in X chromosome.
• It occurs in 8% of males & 0.4% of females.
This is because the genes are X-linked.
• Normal allele is dominant (C).
• Recessive allele (c) causes colour blindness.
Cc
• The son of a heterozygous woman (carrier,X X ) has a 50% chance of
being colour blind.
• A daughter will be colour blind only when her mother is at least a carrier &
C
her father is colour blind (X Y).

Normal RBC

0
oD
·
⑧

..
Phenylketonuria:
• An inborn error of metabolism.
• Autosomal recessive disease.
• It is due to mutation of gene that codes for enzyme phenyl alanine hydroxylase.
This enzyme converts an amino acid phenylalanine into tyrosine.
• The affected individual lacks this enzyme. As a result, phenylalanine accumulates
and converts into phenyl pyruvic acid and other derivatives.
• They accumulate in brain resulting in mental retardation.
These are also excreted through urine because of poor absorption by kidney.
 -
2. Chromosomal disorders
They are caused due to absence or excess or abnormal arrangement of one
or more chromosomes. 2 types:
a. Aneuploidy: The gain or loss of chromosomes due to failure of segregation of
chromatids during cell division.

b. Polyploidy (Euploidy): It is an increase in a whole set of chromosomes due to

failure of cytokinesis after telophase stage of cell division. This is very rare in human
but often seen in plants.
Examples for chromosomal disorders