A mutation is a change in an organism's genetic material. It can result from damage to DNA and alter the genotype and phenotype. There are two main types of mutations: point mutations, which involve a single nucleotide, and chromosomal mutations, which involve larger DNA segments. Chromosomal mutations can cause changes in chromosome number through additions or deletions, or changes in chromosome structure through rearrangements like inversions, duplications, and translocations. Genetic disorders can be chromosomal disorders, caused by abnormal chromosome number or structure, or Mendelian disorders caused by a mutation in a single gene. Examples include Down syndrome, Klienfelter's syndrome, Turner syndrome, hemophilia, and phenylketonuria.

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4. A mutation is the
change in the
genetic element of
an organism.
It can result in the
change in genotype
and phenotype of an
organism.

5. Causes of
Mutations
• A Mutation occurs when a DNA gene
is damaged or changed in such a way
as to alter the genetic message carried
by that gene
• A Mutagen is an agent of substance
that can bring about a permanent
alteration to the physical composition
of a DNA gene such that the genetic
message is changed

6. MUTATION
POINT
MUTATION
CHROMOSOMAL
MUTATION

7. POINT
MUTATION
A point mutation, or single base
substitution, is a type of mutation
that causes the replacement of a
single base nucleotide with
another nucleotide of the genetic
material, DNA or RNA. The term
point mutation also includes
insertions or deletions of a single
base pair.

9. CHROMOSOMAL
MUTATION
A mutation involving a long segment
of DNA.
These mutations can involve deletions,
insertions, or inversions of sections
of DNA. In some cases,
deleted sections may attach to
other chromosomes.

11. a. Numbers of sets of
chromosomes with
respect to whole
genome-polyploidy.
b. Numbers of a
particular
chromosomes e.g.
chromosome.
Alterations in
chromosome number

12. Changes in Chromosome
Structure
The pairing of homologous
chromosomes during prophase I of
meiosis can lead to a number of
errors.
Miss-pairings can result in
duplication or deletion of entire
sections of chromosomes or
inversions of sections so that the
order of a DNA sequence is
reversed with respect to the rest of
the chromosome.

13. CHANGE IN STRUCTURE OF CHROMOSOMES
INVERSIONDUPLICATION
TRANSLOCATION
DELETION

14. deletion (1) duplication (2) inversion (3).

16. M A N H A S C A T
M A H A S C A T M
M A N H A S C A T
M A N N H A S C A

17. M A N H A S C A T M A N H A S C A T
M A H N A S C A T M A N Z A S C A T

19. Chromosomal disorders is the disorder
which caused due to the absence or
excess or abnormal arrangement of one
or more chromosomes. Failure of
segregation of chromatids during cell
division cycle results in the gain or less of
a chromosome.

21. This is caused by additional copy of
chromosome number 21. The affected
individual is short statured with small
round head, furrowed tongue and
partially open mouth.

22. Turner syndrome is a chromosomal
disorder that affects only females.
It is characterized by the absence of
part or all of a second sex
chromosome in some or all cells.
Approximately 1 in every 2,500 to
3,000 girls is born with the
condition.

23. Mendelian disorder are mainly determined by alteration or
mutation in the single gene. These disorders are transmitted to
the offspring. The mutation can either occur on a single
chromosome or on a pair of homologous chromosomes. At
present, more than 5000 Mendelian disorders have been
identified in human.

24. This sex linked recessive
disease, which shows its
transmission from unaffected
carrier female to some other
male progeny. In this disease a
single protein that is a part of
the cascade of proteins
involved in the clotting of blood
is affected due to this in an
affected individual a simple cut
will result in non stop bleeding.

25. PHENYLKETONEURIA
Phenylketonuria (PKU)
is a rare inherited
condition in which
there is a build up of
phenylalanine
hydroxylase in the
body. Untreated PKU
can lead to intellectual
disability, seizures, and
other serious medical
problems.

26. Mutation
Point mutation
Chromosomal
Mutation
Change in
number
Change in
structure
Deletion Inversion Duplication Translocation

27. Genetic
disorder
Chromosomal
disorder
Down
syndrome
Klienfelter’s
syndrome
Turner
syndrome
Mendelian
disorder
Haemophillia
Phenylketonuria