HEREDITY

The transmission of characters/ traits form one generation to the

next generation is called heredity.
 VARIATION

• Variety

• The differences in the character among the individuals of the

same species are called variation.
EXAMPLE – Suppose, if mother and father both have free ear
lobe is it possible that children will have attached ear lobe?

YES, it’ possible, because both the parents will be heterozygous

of the trait.

Homozygous and heterozygous trait are genetic condition that

describes the pair of genes inherited from parents.

HOMOZYGOUS TRAIT- Inherited the same versions of a

gene from both the parents.

HETEROZYGOUS TRAIT- Inherited different versions of a

gene from each parent.
 IMPORTANCE OF VARIATION

Advantage of variations in individual are –

• It brings adaptation in individuals.

• It helps in the survival and provides stability to a species.

• It is the basis of evolution.

INHERITED TRAITS Vs ACQUIRED TRAITS
Examples of inherited traits
Examples of acquired traits
Examples of acquired traits
 GENETICS

• The branch of biology that deals with the transmission of

characters and variation is known as genetics.

 William Bateson  Gregor Johann Mendel

 Coined the term genetics  Father of genetics

 MENDEL’S LAW OF INHERITANCE

• He worked on pea plant Pisum sativum for

seven consecutive years (1856- 1863) and
performed hybridization experiments on it.

• He proposed three laws of inheritance.

• Mendel was born in 1822 in a small village of

Austria.

• He prepare both monohybrid and dihybrid

cross.

• Results were published in 1864 in Brunn

society of natural science under the name
“experiments on plant hybridization”.
Why did Mendel choose garden pea on his experiments?
• It was during the mid-nineteenth century that headway was
made in the understanding of inheritance.

• Gregor Mendel, conducted hybridization experiments on

garden peas for seven years (1856-1863) and proposed the
laws of inheritance in living organisms.

• During Mendel’s investigations into inheritance patterns, it

was for the first time that statistical analysis and
mathematical logic were applied to problems in biology.

• His experiments had a large sampling size, which gave

greater credibility to the data that he collected.

• Also, the confirmation of his inferences from experiments on

successive generations of his test plants, proved that his
results pointed to general rules of inheritance rather than
being unsubstantiated ideas.
• Mendel investigated characters in the garden pea plant that
were manifested as two opposing traits, e.g., tall or dwarf
plants, yellow or green seeds.

• This allowed him to set up a basic framework of rules

governing inheritance, which was expanded on by later
scientists to account for all the diverse natural observations
and the complexity inherent in them.

• Mendel conducted such artificial pollination/cross

pollination experiments using several true-breeding pea
lines.

• A true breeding line is one that, having undergone

continuous self-pollination, shows the stable trait inheritance
and expression for several generations.
• Mendel selected 14 true-breeding pea plant varieties, as pairs
which were similar except for one character with contrasting
traits.

• Some of the contrasting traits selected were smooth or

wrinkled seeds, yellow or green seeds, inflated (full) or
constricted green or yellow pods and tall or dwarf plants.
 SOME IMPORTANT TERMS

• DNA – Chromatin and chromosomes

• Genes

• Allele
• Phenotype
• Diploid and haploid
• Genotype
• Dominant allele/trait
• Monohybrid cross
• Recessive allele/trait
• Dihybrid cross
• Homozygous / pure condition

• Heterozygous / hybrid condition

 DNA : Deoxyribonucleic Acid

A thread-like structure which carries all the information about

our characters.

NUCLEUS

CELL
CHROMATIN

Scattered form of DNA dispersed throughout

nucleus.

CHROMOSOME

Highly coiled and condensed from of DNA and

chromosomes are visible only during cell
division.
 GENES

• A segment or part of DNA that carries information for a

particular character.

• Unit of heredity

• Expresses themselves to regulate a specific character in an

individual.

• Located on chromosomes.

• These locations of gene on chromosome are known as loci.

Length of human DNA - 2.2 m (one cell)

 DIPLOID AND HAPLOID

Diploid – Two copy of each chromosome

Haploid – single copy of each chromosome

Somatic cells
• All somatic cells of human beings which are not involved in
sexual reproduction.

• Diploid cells.

• Total chromosome no – 46 chromosomes ( 23-pair)

Germ cell or gamete

• Which are involved in sexual reproduction.

• Male gamete (sperm cell) and female gamete ( egg cell or

ovum).

• Haploid cells

• 23 chromosomes

• Sperm and egg will fuse and form zygote.

• Zygote – Newly formed progeny shows ‘ two copies of each

chromosome.”
 ALLELES

• Allele is an alternative variant/version/ form a gene.

• One of two or more possible forms/ version of a gene that

are located at the specific location on specific chromosome.

• Alleles are alternate forms of gene that occupy specific

location on a particular chromosome and contribute the same
character.

MULTIPLE ALLELISM: More than two alleles of a gene

in a population for e.g.: blood group.

Blood group is controlled by I gene which is having three

different alleles in a population. (I ‘A’ ; I ‘B’ ; i.

However a diploid individual will only have 2 allele for a

gene.
 DOMINANT AND RECESSIVE ALLELE

Dominant allele –

• The stronger one from the two alleles .

• Denoted by capital letter.

• Express itself in both : Homozygous and heterozygous

condition.

Recessive allele-

• The weaker one from the two alleles

• Denoted by small letter.

• Express itself only in : Homozygous condition.

 DOMINANT AND RECESSIVE TRAITS

Dominant traits – appears due to expression of dominant allele

is called dominant trait.

Recessive traits- appears due to expression of recessive allele is

called recessive allele.
HOMOZYGOUS AND HETEROZYGOUS CONDITION

Homozygous dominant condition ( pure

condition) - TT

Heterozygous condition( hybrid) - Tt

Homozygous recessive condition (pure condition)

–tt

Hemizygous condition When only one allele is

there out of two in a diploid organism.
 GENOTYPE AND PHENOTYPE

Genotype – combination of genes in an organism.

Phenotype – appearance of an organism or observable physical

trait.

Pure lines – Homozygous individual. For example, height is a

character of individual which can be either tall or dwarf these
two are the trait.
GAMETE FORMATION-
NATURE OF GAMETE -

TA ; Ta tA ; ta
 MONOHYBRID CROSS

• Cross made with the help of one pair of contrasting trait/

one character.

• Inheritance of one gene at a time.

• Mendel prepared 7 monohybrid cross with the help of 7

contrasting character.
• Step -1 : Cross pollination between selected parents which
are a pure line for a character.

All were tall (phenotype)

• Step-2: Self pollination , same parent giving both male and female gamete.

Phenotypic ratio – 3:1 (75 % Tall and 25% Dwarf)

Genotypic ratio- [Link]

 F1G – Phenotypic ratio = 1 (all tall)

F2G- Phenotypic ratio = 3:1 (75% tall and 25% dwarf).

• To know the genotype of both F1 and F2 generation, Mendel

performed test cross.

• Test cross – Performing the cross between unknown genotype

organism with homozygous recessive parental type ( tt).
 On the basis of monohybrid cross Mendel
gave two laws –

1. Law of segregation

2. Law of dominance

LAW OF SEGREGATION

• Also known as law of purity of gametes.

• It is a universal law without any exception.

• Everywhere law of segregation is applicable this was biggest success of

Mendel.

• According to this law alleles of the gene segregate independently without

blending with each other during the time of meiosis.

• After reduction or after meiosis in a diploid organism when gametes are

obtained each gamete are going to receive one allele out of the two and
pure allele no mixture that’s why this law is also called as law of purity.
TYR , TYr TyR , Tyr tYR , tYr tyR, tyr

NOTE – Each gametes receives only one allele out of two.

LAW OF DOMINANCE

• According to this law each gene consist of two allele even in a

population.

• If a gene is represented by a heterozygous condition, then one

allele will be dominant and other recessive.

• Dominant allele always express itself.

• Every gene controls one character.

• Qualitative inheritance – One dominant allele is sufficient to

produce dominant phenotype.
Exceptions of law of dominance:

Multiple allelism

 Because one gene can be represented by more then two allele in

a population.

 Example – ABO blood group system in human.

To calculate the possible genotype for gene showing multiple

allelism.
• A, B and O blood group all the three are following law of
dominance.

• AB blood group are showing co-dominance.

• Co-dominance : when both the alleles in a heterozygous state

are expressing themselves equally.
Co – dominance

 If heterozygous condition is there it is not always guaranteed that one

will be dominant one can be recessive , both can be dominant or both
can be recessive.

 For example – AB blood group both the alleles are dominant but
heterozygous condition is there.

 As when gene I is present in its heterozygous state, both the alleles are
equally expressing (none of them is getting suppressed).
 Incomplete dominance/ Quantitative
inheritance

 sometimes one dominant allele is not

sufficient enough to bring the dominant
phenotype.

 Carl Correns studied on snapdragon (colour

of the flower).

 As the no of dominant alleles will decide the

type of phenotype.

 Carl also made the monohybrid cross

following the instruction of Mendel by using
‘r gene’ – controlling flower colour.

1. Selection of pure line parents – RR (Red

colour) x rr (white colour).

2. Performing cross pollination

 Correns was expecting that all offsprings should come red
colored.

 Why because Mendel said when pure line parents are crossed
then all offspring brings dominant phenotype.

 But it did not happen actually some intermediate color came

all offspring seemed to become pink in color.

 Here Correns got shocked that Mendel made a mistake or he

made a mistake. So, to ensure that he continued the experiment
of Monohybrid cross.
3. Selfing of F1 generation.

F2G – Phenotypic Ratio- [Link]

Red (25%) , Pink (50%) , White (25%)

4. To conform the genotype, he performed the test cross.

• In case of incomplete dominance, the phenotypic and genotypic ratio for F2 generation
came to be same.

• Correns got one thing that Mendel Qualitative Inheritance is wrong.

• Always one dominant allele is not sufficient enough to produce the dominant phenotype.

• In case of flower color of snapdragon one dominant allele is not sufficient enough to
produce red color flower.
Pleiotropy

 When one gene is controlling more than one character.

 E.g. : seed size and seed shape both are controlled by same
gene (B) in pea plant.

 Seed size also shows incomplete dominance.

‘B’ gene

Protein

SBE (Starch Branching Enzyme)

o Mendel performed monohybrid cross and on the basis of that
cross he simply frames the laws.

o It was in his luck that the character which he chose did not show
this exceptions.

o Mendel chose seven characters of pea which neither show

incomplete dominance , pleiotropy, co- dominance and multiple
allelism. That is why Mendel did not come across all these
points.

o But when later more scientist came they experimented on

different organisms then that saw this law of dominance is not
correct. It is only applicable to those seven character chosen by
Mendel.
 DIHYBRID CROSS

• Cross involving two gene controlling two characters.

• Two gene : R – Seed shape , Y- Flower colour. These two

characters are represented by two contrasting trait.

• For seed shape – Dominant pure line (RR) round shape and
Recessive pure line (rr) wrinkled shape.

• For seed colour- Dominant pure line (YY) yellow colour and
Recessive pure line (yy) green colour.
GENOTYPIC RATIO –

RRYY : RRYy : RrYY : RrYy : RRyy : Rryy : rrYY : rrYy : rryy

1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1
 On the basis of dihybrid cross Mendel proposed a law of
Independent Assortment.

LAW OF INDEPNDENT ASSORTMENT

• When two genes are inherited together from parents to offspring then both
the genes segregate independently without blending followed by their
alleles.

• This law is also not accepted it is also having an exception by the name
Linkage.

• When two genes they are located on a same homologous chromosome

they can influence each other, they do not segregate independently . This
is called as linkage.

• Later their alleles will segregate out correct but genes located on
homologous chromosome do not segregate out independently during the
time of gamete formation.
o So till here is classical genetics, the genetics given by Mendel.

o Mendel is known as father of classical genetics.

o Bateson is also known as father of modern genetics.

o Modern genetics also known as Batsonian genetics.

 CHROMOSOMAL THORY OF
INHERITANCE
• By Sutton and Boveri.

• These two people simple copied the work of Mendel.

• Whatever theory Mendel explained for genes same theory was used by them.

• Simply editing the word gene by chromosome.

Postulates –

 Chromosomes occur in pair (a pair of homologous chromosome) in a diploid cell.

 During the time of meiosis both the chromosome separate and each gamete is going to receive
only one out of the two.

 To restore the ploidy, fertilization is required.

 During the time of meiosis and fertilization, the number of chromosome may change cell may
become haploid then again diploid but during all those events there is no damage to the
chromosome, chromosome number will remain the same, the size , shape and morphology will
also remain the same.
NCERT LINES-
4.3.2 Chromosomal Theory of Inheritance

 Mendel published his work on inheritance of characters in 1865 but for

several reasons, it remained unrecognized till 1900.

 Firstly, communication was not easy (as it is now) in those days and his
work could not be widely publicized.

 Secondly, his concept of genes (or factors, in Mendel’s words) as stable and
discrete units that controlled the expression of traits and, of the pair of alleles
which did not ‘blend’ with each other, was not accepted by his
contemporaries as an explanation for the apparently continuous variation
seen in nature.

 Thirdly, Mendel’s approach of using mathematics to explain biological

phenomena was totally new and unacceptable to many of the biologists of
his time.

 Finally, though Mendel’s work suggested that factors (genes) were discrete
units, he could not provide any physical proof for the existence of factors or
say what they were made of.
 In 1900, three Scientists (de Vries, Correns and von Tschermak)
independently rediscovered Mendel’s results on the inheritance of
characters.

 Also, by this time due to advancements in microscopy that were

taking place, scientists were able to carefully observe cell division.

 This led to the discovery of structures in the nucleus that appeared

to double and divide just before each cell division.

 These were called chromosomes (colored bodies, as they were

visualized by staining).

 By 1902, the chromosome movement during meiosis had been

worked out.
 Walter Sutton and Theodore Boveri
noted that the behavior of
chromosomes was parallel to the
behavior of genes and used
chromosome movement.

 The behavior of chromosomes during

mitosis (equational division) and
during meiosis (reduction division).

 The important things to remember are

that chromosomes as well as genes
occur in pairs.

 The two alleles of a gene pair are

located on homologous sites on
homologous chromosomes.
 During Anaphase of meiosis
I, the two chromosome pairs
can align at the metaphase
plate independently of each
other.

 To understand this, compare

the chromosomes of four
different color in the left and
right columns.

 In the left column (Possibility

I) orange and green is
segregating together.

 But in the right-hand column

(Possibility II) the orange
chromosome is segregating
with the red chromosomes.
 Sutton and Boveri argued that the pairing and separation of a
pair of chromosomes would lead to the segregation of a pair
of factors they carried.

 Sutton united the knowledge of chromosomal segregation

with Mendelian principles and called it the chromosomal
theory of inheritance.
 LINKAGE AND RECOMBINATION
• Studied by T.H Morgan on Drosophila melanogaster (fruit fly).

• He took 3 genes controlling 3 character i.e. body colour, eye colour,

wing size.

• Experimental verification of the chromosomal theory of inheritance.

Why fruit fly ?

 Shorter life span – about 2 weeks.

 Sexual dimorphism – male are smaller and females are larger.

 Can grow on any simple synthetic medium.

 No of chromosomes in a diploid organism is very less- total 8

chromosomes out of this 6 are autosomes and 2 are sex chromosome.

 Sex determination same as humans- XX- Female, XY- Male.

 Per mating they produce large no. of offsprings.

NCERT LINES
 Following this synthesis of ideas, experimental
verification of the chromosomal theory of inheritance by
Thomas Hunt Morgan and his colleagues, led to
discovering the basis for the variation that sexual
reproduction produced.

 Morgan worked with the tiny fruit flies, Drosophila

melanogaster which were found very suitable for such
studies.

 They could be grown on simple synthetic medium in the

laboratory.

 They complete their life cycle in about two weeks, and a

single mating could produce a large number of progeny
flies.

 Also, there was a clear differentiation of the sexes – the

male and female flies are easily distinguishable.

 Also, it has many types of hereditary variations that can

be seen with low power microscopes.
  Morgan prepared 3 dihybrid cross. Body colour controlled by gene – Y

Eye colour controlled by gene- W

Wing size controlled by gene - M

• Dominant is also known as wild type trait.

• Recessive is also known as mutant type trait.

• One cross between body colour and eye colour.

• Second cross between eye colour and wing size.

• Third cross between body colour and wing size.

CROSS-

• Select the pure line parents.

• One we are going to take male and one female.

• Male is determined by XY type of chromosome whereas

female is determined by XX type of chromosome.
• 98.7% of the offspring they are bringing only the combination exactly of parent that
means recombination crossing over is not taking place or is taking place very minimally.

• Less crossing over is taking place that is why chances of parental zygotic combination a
F2 generation is very high and formation of recombination zygotic combination is very
low.

• Morgan got confused that why so only parental gametes are being produced why not
recombinant gametes.

• He found that these two genes they are located on the same chromosome which is X and
they are present very closely.

• As a result they are not able to perform crossing over.

• Such genes which are located very close to each other they are called as linked genes.

If two genes are located on same chromosome if their distance is less,

then chances of crossing over decreases, thus the rate of linkage
increases.
Chromosomal mapping -

• On this basis only student of Morgan tried to map the genes on

chromosome.

• Since genes are located linearly on the chromosome Alfred

Sturtevant tried to map or locate the genes on the chromosome
on the basis of distance between them.

• Distance between the two genes is directly proportional to the

percentage of recombination (crossing over).

• That means more the distance, more will be recombination and

lesser will be the linkage.
Alfred Sturtvent –

According to him, since genes are located linearly on the

chromosome distance between the 2 gene is equivalent to
the percentage of recombination.

For example –

y gene and w gene = 1.3 cM ( centimorgan).

w gene and m gene = 37.2 cM

y gene and m gene = 38.5 cM

 POLYGENIC INHERITANCE

• Polygenic means where many genes are controlling one

character.

• Example – Human skin colour (studied by Davenport) is

controlled by 3 genes (A B C).

• Polygenic inheritance is also a type of quantitative inheritance

where number of dominant alleles the quantity of dominant
allele is going to decide the phenotype of an organism.
 PLEIOTROPY
When one gene is controlling more than one character.
 SEX DETERMINATION
• Henking(1891) studied spermatogenesis in insects.

• He traced a specific nuclear structure all through spermatogenesis in a few

insects.

• Henking also observed that only 50% of the sperm received this structure.

• This structure was called X body by him.

• Stevens discovered that the remaining 50% of the which are not
receiving the X chromosome are actually receiving the Y
chromosome.
• Like this people came to know that in some insects males are having combination
of sex chromosome as XY.

• Then later may be oogenesis was also studied.

• Then it was found that in females all the gametes are receiving same type of sex
chromosome that is XX.

• Like this concept of sex determination came into existence.

• Then for different organism the sex determination was done and we came to
know that different types of organism are having different type of sex
chromosomes.

• This all the examination is done on the basis of chromosome, so sex

determination also called as chromosomal sex determination.

• Some organisms like turtles, crocodiles sex determination is not done by

chromosome rather it is environmental temperature.
Sex determination can be determined genetically or environmentally.

Environmental sex determination – When sex of an organism is deponent upon the external
condition like temperature. Example –Turtles.

Genetically sex determination-

• Majority of the organism shows chromosomal sex determination.

• Nature and type of chromosome is going to decide the sex of an organism.

• It can be of two types male heterogamity and female heterogamity.

Male Heterogamity –

o When males are basically producing two types of gametes depending upon sex chromosome.

o XX-XO type and XX-XY type.

Female Heterogamity –

o When female produces two types of gametes on the basis of sex chromosome.

o ZZ-ZO type and ZZ-ZW type.

XX-XO TYPE-

Example – Grasshopper
XX-XY TYPE-

Example – Human beings, Drosophila.

ZZ-ZO TYPE-

Example- Butterflies and Moth

ZZ-ZW TYPE-

Example – Hen
SEX DETERMINATION IN HUMAN BEINGS

 It has already been mentioned that the sex determining mechanism

in case of humans is XY type.

 Out of 23 pairs of chromosomes present, 22 pairs are exactly same

in both males and females; these are the autosomes.

 A pair of X-chromosomes are present in the female, whereas the

presence of an X and Y chromosome are determinant of the male
characteristic.

 During spermatogenesis among males, two types of gametes are

produced. 50 per cent of the total sperm produced carry the X-
chromosome and the rest 50 per cent has Y-chromosome besides
the autosomes.

 Females, however, produce only one type of ovum with an X-

chromosome.
 There is an equal probability of fertilization of the ovum with the
sperm carrying either X or Y chromosome.

 In case the ovum fertilizes with a sperm carrying X-chromosome the

zygote develops into a female (XX) and the fertilization of ovum with
Y-chromosome carrying sperm results into a male offspring.

 Thus, it is evident that it is the genetic makeup of the sperm that

determines the sex of the child.

 It is also evident that in each pregnancy there is always 50 per cent

probability of either a male or a female child.

 It is unfortunate that in our society women are blamed for giving

birth to female children and have been ostracized and ill-treated
because of this false notion.
SEX DETERMINATION IN HONEY BEE

 First of all it was studied by Arrhenotoky.

 This type of sex determination is also known as Arrhenotoky sex

determination.

 It is also known as Haplo-diplontic sex determination.

 Male honeybee are know as drone and fertile female honeybee is known as
queen.

 Drones are haploid organisms which develop by parthenogenesis.

 Whereas females are diploid which developed by normal fertilization.

 MUTATION

Mutation is sudden, discontinuous variation in genotype and

phenotype of an organism due to change in chromosome and
genes.

Concept was given by Hugo de Vries while working on

Oenothera lamarckiana ( evening primrose).

Mutation also causes evolution.

Types of mutation-

1. Gene Mutation

2. Chromosomal Mutation

3. Genomatic Mutation
GENE MUTATATION-

• Genes are compacted form of DNA.

• DNA is a nucleotide.

• When mutation occur in the gene of chromosome and mutation occur in the
sequence of the nucleotide of one gene then it is known as gene mutation.
Types of gene mutation-

• Point Mutation- when only one nucleotide of a gene change. (example-sickle cell
anaemia)

• Gross Mutation- when more than one nucleotide undergo mutation.

• Frameshift-Mutation –

1. Deletion – when two or more nucleotides gets deleted.

2. Addition – when two or more nucleotide gets added in the gene sequence.

• Substitution – number of nucleotide in gene will remain same but the type is going to
change.

1. Transition –when purine is replace by purine or pyrimidine is replace be pyrimidine.

2. Transversan - when purine is replaced pyrimidine and pyrimidine is replaced by

purine.
CHROMOSOMAL MUTATION-

When the mutation is occurring in more than one

gene of a chromosome without changing the total
number of chromosome.

Types of chromosomal mutation-

1. Deletion

2. Duplication

3. Inversion

4. Translocation
• Deletion :
When a part of chromosome consisting of more than gene get deleted.

• Duplication :

When the same segment of chromosome gets duplicated.

• Translocation :

Transfer of a chromosomal segment between non homologous chromosome.

Also known as illegitimate crossing over. (example-cancer)

• Inversion :
When the gene located on chromosome rotates at 180.

Paracentric inversion without involving centromere.

Pericentric inversion involving centromere.

GENOMATIC MUTATION-

When overall the number of chromosome are getting altered (may be in multiple of basic
set or not in multiple of basic set)

Types –

1. Aneuploidy

2. Euploidy
Aneuploidy-

When the number of chromosome are changing but not in multiple of basic set.

Types of Aneuploidy-

Deletion Aneuploidy

1. MONOSOMY: example – Turner syndrome (In female carries 45{AA+XO chromosome as one
of the X chromosomes gets deleted).

When one of the chromosome of pair gets deleted.

 2. NULLISOMY:

Basically 2n-2 condition.

When both the chromosome of a pair gets deleted.

Addition Aneuploidy

1. TRISOMY:

2n+1
Example – Down’s syndrome

2. TETRASOMY:

2n+2
 Euploidy-
When the change of chromosome is taking place in
multiples of basic set.

Types of euploidy-

1. HAPLOIDY:

Deletion type of euploidy.

When one complete set of chromosome is getting deleted.

2. Polyploidy :

Addition type of euploidy.

When complete sets of chromosome gets added.

 MUTAGENS

Mutagens are the agents which causes changes in

the genotype as well as the phenotype of an
organism

TYPES-

Physical Mutagen:

• Like radiation.

• Ionizing radiation- X-rays, gamma rays – they penetrate the skin and causes
breakage in the chromosome of the cell, thus introducing mutation.

• Non –ionizing radiation- UV rays- they do not penetrate the skin but they can cause
damage to skin cell.
Chemical Mutagen:

Nitrous acid (HNO2) – Causes oxidative deamination of nitrogenous bases in DNA

thus causes change in the base pairing.

Base Analogs-

• Examples : 5-Bromouracil, 2-Aminopurine

• These base analogs are structurally representing one or the other nitrogenous
bases , taking their position during replication, then later causing faulty base
pairing.
 PEDIGREE ANALYSIS

• The concept of learning the pattern of inheritance of gene in a

family tree.

• This concept helps the expecting couple to understand the

probability of their child having the same disorder as present
in the family.
Symbols used in pedigree analysis:
 GENETIC DISORDER

CHROMOSOMAL MENEDELIAN
DISORDER DISORDER
Disorders which occurs due Disorders which occurs due
to the change in the nature of to the change in the
chromosome (number or arrangement of gene on a
structure got changed) chromosome.
Example – Down’s Example – colour blindness,
syndrome, etc.. etc..
 MENEDELIAN DISORDERS

Mendelian disorder they can be of two type-

Sex –linked mendelian disorder-

• Those disorder which occur due to change in arrangement of gene located on

sex chromosome.

• Disorders are sex-biased

Autosomal mendelian disorder-

• Those disorder which occur due to change in arrangement of gene located on

autosomal chromosome.

• Disorders are not sex-biased.

DISORDERS TYPES
Colour blindness X-linked recessive
Haemophila X-Linked recessive
Sickle –cell anaemia Autosomal recessive
Thalassemia Autosomal recessive
Phenylketonuria Autosomal recessive
Cystic fibrosis Autosomal recessive
Mystonia dystrophy Autosomal dominant
COLOUR BLINDNESS
 Inability to distinguish between colour mainly red and green.

 Genes for colour blindness (C) are located on X-chromosome.

 It is basically a X-linked recessive disorder.

 In female both the chromosome is XX , so in case of female the disorder

will only come when the gene is present in its homozygous recessive state.

 In male the chromosome is XY, so in case of male the disorder will only
come when the gene is present in hemizygous recessive state.
 It follows Criss cross pattern of inheritance.
For example- A diseased man marries a carrier woman for colour blindness.
HAEMOPHILIA
 X-linked recessive disorder.

 Follow criss-cross pattern of inheritance.

 When blood fails to coagulate at the site of injury as a result heavy loss of blood
takes place even from a small injury.

 It is also known as Bleeder’s disease.

 Also known as Royal’s disease because it is very prominent in Royal family

Queen Victoria.

 Two types of Haemophilia – H- A and H-B.

 H-A occurs when blood clotting factor VIII (antihemophilic globulin {AHG}) is
missing.

 H-B occurs when blood clotting factor IX (Christmas factor) is missing. H-B is
also known as Christmas factor.

 Christmas factor named after a patient, Stephen Christmas who was the first to
be identified with a deficiency in this clotting factor.
For example- A diseased man marries a carrier woman for Hamophilia .
SICKLE-CELL ANAEMIA

 Autosomal recessive disorder.

 The shape of the RBC changes from biconcave to Sickel shape.

 The oxygen carrying capacity will decrease.

 This is actually qualitative anaemia.

 Hb is made up of 2 alpha chains of protein and 2 beta.

 In mRNA of beta chain the number of nucleotides are arranged the six
nucleotide in normal mRNA of RBC is having Adenine.

 Due to transversion type of mutation adenine is replaced by uracil.

PHENYLKETOUNRIA

 Autosomal recessive disorder.

 Due to the inactivation of gene responsible for producing enzyme

phenyl alanine hydroxylase.

 As a result, phenylalanine is not be able to convert into tyrosine.

 As a result of this phenylalanine is accumulated and converted into

phenyl pyruvic acid and other derivatives. Accumulation of these in
brain results in mental retardation.

 These are also excreted through urine because of its poor absorption
by kidney.
THALASEMMIA
 Autosomal recessive disorder.

 It is also type of anaemia but quantitative anaemia.

 Because here the quality will remains the same the type of protein produce
will be same , glutamic acid will only produce there will be no production
of valine.

 However, the quantity of Hb chain in the RBC will get altered.

 May be Hb will produce will 3 alpha and 1 beta or vice versa.

 If this thing happen the quantitative of Hb chain changes then again the
RBC fails to function, it fails to carry oxygen.

 Thus causing anaemia.

 CHROMOSOMAL DISORDERS
DOWN’S SYNDROME

 One of the example of Trisomy in autosomes (addition aneuploidy).

 When 21st pair of chromosome makes its extra copy.

 (2n=46) = 46+1=47.

 This disorder was first described by Langdon Down (1866).

 The affected individual is short statured with small round head,

furrowed tongue and partially open mouth.

 Palm is broad with characteristic palm crease.

 Physical, psychomotor and mental development is retarded.

TURNER’S SYNDROME

 Monosomy (deletion aneuploidy).

 Seen in case of female.

 When one of the X chromosome gets deleted.

 (46-1) = 45 (AA+XO).

 Such females are sterile as ovaries are rudimentary besides other

features including lack of other secondary sexual characters.
KLINFELTER’S SYNDROME

 Basically a trisomy of allosome (in case of male).

 Karyotype = 44+XY = 46

 Male with Klinefelter's syndrome : 44+XXY =47.

 X chromosome is making its extra copy.

 Such an individual has overall masculine development, however, the feminine

development (development of breast, i.e., Gynecomastia) is also expressed. Such
individuals are sterile.
HOW TO SOLVE PEDIGREE ?
Autosomal Recessive : Autosomal Dominant:

AA – Normal AA- Diseased

Aa- Normal Aa-Diseased

Aa- Diseased Aa-Normal