ARMY PUBLIC SCHOOL GOPALPUR
CLASS-XII Science SUBJECT – BIOLOGY
CHAPTER–5 PRINCIPLES OF INHERITANCE AND VARIATION
NOTES
Mutation
Any change, in the sequence of DNA is called a mutation. Viable mutations get
inherited from one generation to another. A mutation, changes the genotype as well
as the phenotype of an organism
It is linked to various diseases, but not all mutations are harmful
Changes like, deletion, insertion, duplication, substitution, etc. result in mutation. A
mutation is the major cause of cancer. There are many mutation inducing agents
(mutagens) such as UV rays
There are two types of genetic mutation:
1. Point mutation: There is a substitution in the single base pair of DNA, e.g.
in the sickle cell anaemia.
2. Frame shift mutation: It results from the insertion or deletion of one or
more pairs of bases in DNA. It changes the reading frame of triplet codons,
that code for certain amino acids of the protein.
Genetic Disorders
There are many disorders in the human being that are inherited and caused due to
mutation in the gene or alteration in chromosomes.
Pedigree Analysis
The analysis of traits in several of generation of a family is called the pedigree
analysis. The inheritance of a particular trait is represented in family tree over
several generations. It is used to trace the inheritance of particular trait,
abnormality and disease.
Symbols used in pedigree analysis: -
Genetic Disorders
They are grouped into two categories – Mendelian disorders and
Chromosomal disorders.
Mendelian Disorders Chromosomal disorders
These are caused due to absence or excess of one or
These are due to alteration in a single
more chromosomes or abnormal arrangement of
gene.
one/more chromosomes.
They are transmitted into generations
through Mendelian principles of They may be recessive or dominant in nature.
inheritance.
Examples: Colour blindness
Examples: Down’s syndrome, Turner’s syndrome
Phenylketonuria.
Types of Mendelian Genetic disorders
Autosomal dominant.
Autosomal recessive.
Sex-linked dominant.
Sex-linked recessive.
Examples of Mendelian Disorders
Colour blindness
Haemophilia
Sickle cell anaemia
Phenylketonuria
Thalassemia
Cystic fibrosis
Colourblindness
A person suffering from colour blindness cannot differentiate between red and green
colours.
It is caused due to recessive X-linked gene ( ) which prevent the formation of colour
sensitive cells in the retina that are necessary for distinguishing red and green colours.
Dominant X linked ( ) is necessary for the formation of colour sensitive cells in the
retina of the eye.
The homozygous recessive females ( ) and male ( Y) are unable to distinguish
between red and green colours. The frequency of colour blind women is much less than
colour blind men.
Haemophilia
This is a type of sex-linked recessive disorders.
According to the genetic inheritance pattern, the unaffected carrier mother passes on the
haemophilic genes to sons.
It is a very rare type of disease among females because for a female to get the disease, the
mother should either be hemophilic or a carrier but the father should be haemophilic.
(Unavailable in the later stage of life).
This is a disorder in which blood doesn’t clot normally as the protein which helps in
clotting of blood is affected. Therefore, a person suffering from this disease usually has
symptoms of unexplained and excessive bleeding from cuts or injuries.
This type of genetic disorder is caused when the affected gene is located on the X
chromosomes. Therefore, males are more frequently affected.
Sickle cell anemia-
It is an autosome linked recessive trait. The defect is caused by the substitution of Glutamic
acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the haemoglobin
molecule. The substitution of amino acid in the globin protein results due to the single base
substitution at the sixth codon of the beta globin gene from GAG to GUG
The mutant haemoglobin molecule undergoes polymerisation under low oxygen tension
causing the change in the shape of the RBC from biconcave disc to elongated sickle like
structure.
Phenylketonuria
This genetic disorder is autosomal recessive in nature.
It is an inborn error caused due to the decreased metabolism level of the
amino acid phenylalanine.
In this disorder, the affected person does not have the enzyme that converts
phenylalanine to tyrosine. As a result, phenylalanine accumulation takes
place in the body and is converted into many derivatives which result in
mental retardation.
Thalassemia
This is a type of disorder in which the body makes an abnormal amount of
haemoglobin. As a result, a large number of red blood cells are destroyed
that leads to anaemia.
It is an autosomal recessive disease.
Thalassemia is of three types, namely beta thalassemia, alpha thalassemia
and thalassemia minor.
Facial bone deformities, abdominal swelling, dark urine are some of the
symptoms of thalassemia.
Treatment includes blood transfusions, bone marrow transplant, medications
and supplements.
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