Shivam Biology Project

CERTIFICATE
This is to certify that Shivam Solanki of class 12th ‘B’ from

Shriji Baba Saraswati Vidya Mandir, Mathura has completed
this Biology project in partial fulfilment of all the
requirement,
As prescribed CBSE (Central Board Of Secondary Education)

in year 2019-20.
Teacher’s Sign
……………………
ACKNOWLEDGEMENT
I am very graceful to my Biology teacher,

Mr. Harish Saraswat, who has been a constant source of
inspiration & guidance. He supported me with all my ideas &
helped me to the maximum extent possible. He also gave me
enough extra time to find all the required information to turn
my ideas into a single project, even though what I initially
wanted to make wasn’t possible to do by me.
Yet he encouraged me to search for something similar, yet
interesting enough for me. This project would never have
existed, if it wasn’t for his fashion to teach.
I would also like to extend my gratitude to principal sir Dr.
Ajay Sharma for providing me all my facilities that was
required.
Apart from this, I would like to thank all those people who
have published their useful work on the internet without
which, I published wouldn’t even have enough information.
Shivam Solanki
12th ‘B’
INTRODUCTION OF
GENETIC DISORDer
 Genetics is the science of genes, heredity & variations
in living organism.
 Genetics deals with the molecular structure &
function of genes, gene behaviour, patterns of
inheritance from parent to offsprings & gene
distribution & variation.
 A genetic disorder is a disease that is caused by an
abnormality in an individual’s DNA. Abnormalities
can be small as a single- base mutation in just one
gene, or they can involve the addiction or subtraction
of entire chromosomes.
Pedigree analysis
After the rediscovery of Mendel’s work the practice of

analysing inheritance pattern of traits in human being
begans.
 The study of inheritance of genetic traits in several

generations of a human family in the form of a family
tree diagram is called pedigree analysis.
ADVANTAGES:
 It helps in genetic councelling to avoid disorders in
future generations.
 It shows the origin of a trait & flow of a trait in a
family.
 It is important to know the possibility of expressive
allele that can cause genetic disorders like colour
blindness, haemophilia, etc.
 Control crosses cannot be made in human, so
pedigree analysis helps us to study inheritance
pattern of a trait.
 It helps us to uinderstand whether the trait is
dominant or recessive autosomal or sex linked.
 It predicts the harmful effects of marriage between
close relatives.
 It is extensively used in medical research.
THERE
ARE
TWO
TYPES
OF
GENETIC
DISORDERS
1. Mendelian Disorder.
2. Chromosomal disorder.
Mendelian disorder
 Mendelian disorders are caused due to alternation or

mutation in single gene.
 These follow Mendel’s principles of inheritance.
 The pattern of inheritance of such Mendelian
disorders can be traced in a family by the pedigree
analysis.
 These Mendelian disorders may be dominant or
recessive.
LIST OF MENDELIAN DISORDER:
1. Haemophilia.
2. Cystic fibrosis.
3. Sickle cell anaemia.
4. Colour blindness.
5. Phenylketonuria.
6. Thalassemia.
HAEMOPHILIA
 It is a sex-linked recessive disorder.

 Patient continues to bleed even with a minor cut
because of a defect in blood coagulation.
 The gene for haemophilia is located on X
chromosome.
 More males suffer from haemophilia than females
because in males single gene for the defect is able to
express as males have only one X chromosome.
 The defective alleles produce non–functional proteins
which later form a non–functional cascade of proteins
involved in blood clotting.
 Females suffer from this disease only in homozygous
codition, i.e., XcXc.
 Queen victoria was a carrier of this disease &
produced haemophilic offsprings.
CYSTIC FIBROSIS
 It is an autosome linked recessive trait.

 It is caused by the presence of mutations in both
copies of the gene for the cystic fibrosis
transmembrane conductance regulator (CFTR)
protein.
 This affects mostly the lungs, but also the pancreas,
liver, kidneys, & intestine include difficulty in
breathing & coughing up mucus as a result of frequent
lung infection, poor growth, & fatty stool.
 It affects about one out of 3000 newborns.
 Male & female both are equally affects by this disease.
 Those with a single working copy are carriers &
otherwise mostly healthy.
SICKLE CELL ANAEMIA
 It is an autosome linke recessive trait.

 The disease is controlled by a single pair of allele HbA
& HbS.
 Only the homozygous individuals for HbS , i.e., HbSHbS
show the diseased phenotype.
 The heterozygous individuals are carriers (HbAHbS).
 Due to point mutation, glutamic acid (Glu) is replaced
by valine (Val) at sixth position of β-globin chain of
haemoglobin molecule.
 It occurs due to single base substitution at 6th codon
of β-globin gene from GAG to GUG. Mutated
haemoglobin molecule undergoes polymerisation
under low oxygen tension causing the change in the of
RBC from biconcave disc to elongated sickle cell
structure. As a result the cells cannot pass through
capillaries. Blood capillaries are clogged & thus affect
blood supply to different organs.
Colour blindness
 It is a sex linked recessive disorder.
 It results in defect in either red or/& green cone of
eye, resulting in failure to discriminate between red &
green colour.
 The gene for colour blindness is present on X
chromosome.
 It is observed more in males (XcY) because of
presence of only one X chromosome as compared to
two chromosome of females. It occurs in 8% male &
0.4% females.
AFFECTED EYE FOR COLOUR

BLINDENESS.
PHENYLKETONURIA
 It is an inborn error of metabolism & is inherited as

autosomal recessive trait.
 The affected individual lacks an enzyme called
phenylalanine hydroxylase that converts the amino
acid phenylalanine into tyrosine in liver.
 Phenylalanine is accumulated & gets converted into
phenylpyruvic acid & other derivatives. This affects
the brain, resulting in mental disorder.
 Phenylalanine is also excreted through urine because
of its poor absorption by kidney.
Thalassemia
 It is an autosome linked recessive disease.
 It occurs due to either mutation or deletion resulting
in reduced rate of synthesis of one of globin chains of
haemoglobin.
 Anaemia is the characteristic of this disease.
 Thalassenia is classified into two types:
1. α-thalassemia – production of α-globin chain is
affected. It is controlled by the closely linked
genes HbA1 & HbA2 on chromosome 16. It
occurs due to mutation or deletion one or more
of the four genes.
2. Β-thalassemia – production of β-globin chain is
affected. It occurs due to mutation of one or more
HbB genes on chromosome 11.
Chromosomal
disorder
 Chromosomal disorders are caused due to excess,
absence or abnormal arrangement of one or more
chromosome.
 Aneuploidy: sometimes the chromatids fail to
segregate during cell division, resuting in gain or loss
of a chromosome. This is called aneuploidy. It is of
two types:
1. Trisomy: Additional copy of a chromosome in an
individual, i.e., (2n+1).
2. Monosomy: Lack of copy of a chromosome in an
individual, i.e., (2n-1).
 Polyploidy: Failure of cytokinesis after telophase
stage of cell division results in an increase in whole
set of chromosome in an chromosome in an organism.
It is called polyploidy. It is often seen in plants.
List of chromosomal disorder
1. Down’s Syndrome.
2. Klinefelter’s Syndrome.
3. Turner’s Syndrome.
DoWN’S SYNDROME
Cause: Additional copy of chromosome number 21 or

trisomy of chromosome 21.
Symptoms:
1. Short statured with small round head.
2. Partially open mouth with protruding
furrowed tongue.
3. Palm is broad with characteristic palm
crease.
4. Physical, psychomotor & mental
development retarded.
KLINEFELTER’S
SYNDROME
Cause: Presence of an additional copy of X chromosome

resulting in karyotype 44+XXY. i.e., 47 chromosomes.
Symptoms:
1. Sex of the individual is masculine but
possess feminine characters.
2. Gynaecomastia, i.e., development of
breast.
3. Poor beard growth & often sterile.
4. Feminine pitched voice.
5. They are sterile.
6. Tall stature
TURNER’S SYNDROME
Cause: Absence of one of the X chromosome, resulting in

the karyotype 44+XO. i.e., 45 chromosomes.
Symptoms:
1. Sterile female with rudimentary ovaries.
2. Lack of other secondary sexual
characters.
3. Underdeveloped feminine characters.
4. Poor development of breast.
5. Short stature, small uterus, puffy fingers.

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CERTIFICATE

This is to certify that Shivam Solanki of class 12th ‘B’ from

As prescribed CBSE (Central Board Of Secondary Education)

I am very graceful to my Biology teacher,

After the rediscovery of Mendel’s work the practice of

 The study of inheritance of genetic traits in several

 Mendelian disorders are caused due to alternation or

LIST OF MENDELIAN DISORDER:

 It is a sex-linked recessive disorder.

 It is an autosome linked recessive trait.

 It is an autosome linke recessive trait.

AFFECTED EYE FOR COLOUR

 It is an inborn error of metabolism & is inherited as

List of chromosomal disorder

Cause: Additional copy of chromosome number 21 or

Cause: Presence of an additional copy of X chromosome

Cause: Absence of one of the X chromosome, resulting in

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