1. Sickle Shaped Red Blood Cells
Prepared by: Gautam Kumbhani
Guided By: J S S Mohan sir
Roll No: 2 (M.Sc Biotechnology)

2. In biology, a mutation is the permanent alteration of
the nucleotide sequence of the genome of
an organism, virus, or extrachromosomal DNA or
other genetic elements.
Mutations result from errors during DNA
replication or other types of damage to DNA
Mutations play a part in both normal and abnormal
biological processes including: evolution, cancer, and
the development of the immune system,
including junctional diversity.

3. Mutations occurs at a frequency of about 1 in
every 1 billion base pairs
Everybody has about 6 mutations in each cell in
their body!

4. 1st
CHROMOSOMAL MUTATION
2nd
GENETICS MUTATION

5. There have four types:
1. Deletion
2. Duplication
3. Inversion
4. Translocation

6. Deletions reduce the amount of DNA of a
chromosome compared to the normal chromosome.
Small deletions are less harmful than large deletions.
The chromosomes with deletions can never revert to a
normal condition
If gametes arise from the cells having a deleted
chromosome, this deletion is transmitted to the next
generation.
Terminal deletion
Interstitial deletion

8. Duplications increase the amount of DNA of a
chromosome compared to the normal
chromosome.
Thus, due to duplication some genes are present
in a cell in more than two doses
The presence of a part of a chromosome in excess
of the normal complement is known as
duplication

9. Schematic of a
region of a
chromosome before
and after a
duplication event

10. Inversion involves a rotation of a part of a chromosome
or a set of genes by 180* on its own axis
It essentially involves occurrence of breakage and
reunion
The net result of inversion is neither a gain nor a loss in
the genetic material but simply a rearrangement of the
gene sequence
An inversion can occur in the following way : suppose
that the normal order of segments within a
chromosome is 1-2-3-4-5-6 ; breaks occur in regions 2-3
and 5-6 and broken piece is reinserted in reverse order.
This results in an inverted chromosome having
segments 1-2-5-4-3-6

11. There two types:
1. Paracentric inversion
2. Pericentric inversion

12. The shifting or transfer of a part of a chromosome or a
set of genes to a non-homologous one, is called
translocation
There is no addition or loss of genes during
translocations, only a rearrangement
Translocations may be of following three types
1. Simple translocations.
They involve a single break in a chromosome.
The broken piece gets attached to one end of a
nonhomologous chromosome.

13. 2. Shift translocation.
 In this type of translocation, the broken segment of
one chromosome
gets inserted interstitially in a nonhomologous
chromosome.
3. Reciprocal translocations.
 In this case, a segment from one chromosome is
exchanged with
a segment from another nonhomologous one, so that
in reality two translocation chromosomes are
simultaneously achieved.

15. 2. Genetic Mutation

16. Mutations are changes in genetic material –
changes in DNA code – thus a change in a
gene(s)
In gene mutations, the DNA code will have a
base (or more) missing, added, or exchanged in a
codon.

17.  Point mutation occurs when the base
sequence of a codon is changed. (ex.
GCA is changed to GAA)
 There are 3 types:
Also called
frameshift
mutations
•Substitution
•Deletion
•Insertion

18. What will happen to
the amino acids?
Normal DNA: CGA – TGC – ATC
Mutated DNA: CGA – TGC – TTC
Alanine – Threonine - stop
Alanine – Threonine - Lysine
This is a substitution
mutation
The adenine was
replaced with thymine
What has happened to
the DNA?

19. This is a substitution mutation.
A single nitrogen base is substituted for another
in a codon.
It may or may not affect the amino acid or protein.
Mutated DNA: CGA – TGC – TTC
Alanine – Threonine - Lysine
Normal DNA: CGA – TGC – ATC
Alanine – Threonine - stop

20. This is an insertion
mutation, also a type of
frameshift mutation.
Normal DNA: CGA – TGC – ATC
Mutated DNA: CGA – TAG – CAT – C
Alanine – Threonine – stop
Alanine – Isoleucine – Valine
What will happen to the
amino acids?
An adenine was inserted
thereby pushing all the
other bases over a frame.
What has happened
to the DNA?

21. This is an insertion mutation.
A nitrogen base is inserted/added to the sequence.
It causes the triplet “frames” to shift.
It always affects the amino acids and, consequently,
the protein.
Mutated DNA: CGA – TAG – CAT – C
Alanine – Leucine - Valine
Normal DNA: CGA – TGC – ATC
Alanine – Threonine - stop

22. What will happen to the
amino acids?
Mutated DNA: CGA – TCA- TC
A guanine was deleted,
thereby pushing all the
bases down a frame.
Alanine – Threonine – stop
Alanine – Serine
Normal DNA: CGA – TGC – ATC
This is called a deletion
mutation, also a type of
frameshift mutation.
What has happened
to the DNA?

23. This is a deletion mutation.
A nitrogen base is deleted/removed from the
sequence.
It causes the triplet “frames” to shift.
It always affects the amino acids and, consequently,
the protein.
Mutated DNA: CGA – TCA- TC
Alanine – Threonine – stop
Alanine – Serine
Normal DNA: CGA – TGC – ATC

24. Which mutation would have the least affect
on an organism?
Substitution has the least affect because
it changes only one amino acid or it may
change no amino acid.
Mutated DNA: CGA – TGC – ATT
Alanine – Threonine - stop
Normal DNA: CGA – TGC – ATC
Alanine – Threonine - stop
Mutated DNA: CGA – TGC – ATG
Alanine – Threonine - Tyrosine

25. An example of a substitution mutation is
sickle cell anemia.
Only one amino acid changes
in the hemoglobin.
The hemoglobin still
functions but it folds
differently changing the
shape of the rbc.
Sickle Shaped Red Blood Cells
Normal Red Blood Cells

27. Which mutation would have the most affect
on an organism?
Insertion and deletion mutations have the
most effect on an organism because they affect
many amino acids and consequently the whole
protein.
Mutated DNA: CGA – TCA- TC
Alanine – Threonine – stop
Alanine – Serine
Normal DNA: CGA – TGC – ATC
Mutated DNA: CGA – TAG – CAT – C
Alanine – Leucine - Valine

28. Huntington’s Disease is caused by an
insertion mutation.
People with this disorder
have involuntary
movement and loss of
motor control. They
eventually have memory
loss and dementia. The
disease is terminal.
Huntington Disease
Located on chromosome 4
First Gene Disease Mapped

30. Can't be cured, but treatment may help
Requires a medical diagnosis
Lab tests or imaging always required
Chronic: can last for years or be lifelong
It typically starts in a person's 30s or 40s.
Usually, Huntington's disease results in
progressive movement, thinking
(cognitive) and psychiatric symptoms.

31. What causes mutations?
natural errors or an environmental event
What is a mutagen?
something that causes the DNA code to change
(mutate) – x-ray, chemicals, UV light, radiation,
etc
What happens to a person who has a mutation?

32. Pierce of genetics – Benjamin A. Pierce
Additional information of source of
internet

33. THANK YOU