1. Mutations

2. • What is the definition of
mutation?
-A mutation is a change or any
mistake in DNA sequence

3. Mutants…

4. Types of mutations:
• Point Mutations
• Frameshift Mutations
• Chromosomal Mutations

5. Point mutations:
• Point mutations are single-base changes
in a gene’s DNA sequence.
• These include:
-Missense mutations
-Nonsense mutations
-Silent mutations

6. Point mutations: Missense
mutation
• Missense mutation: Change in a single
amino acid within a protein.
• This does change in protein.
Example:
Normal: THE DOG BIT THE CAT
Mutated: THE DOG BIT THE CAR

9. Point Mutations: Nonsense
mutation
• Nonsense mutation: Nonsense
mutations make a premature stop codon
that causing the protein to be shortened.
• Nonsense mutation does change the
resulting protein.
Example:
Normal: THE DOG BIT THE CAT
Mutated: THE DOG BIT

11. Point Mutations: Silent mutation
• Silent mutation: Silent mutations change the
DNA sequence(not the amino acid sequence).
• Silent mutation does not change the resulting
protein and no effect on an organism.
Example:
Normal: THE DOG BIT THE CAT
Mutated: THE DOG BIT THE KAT

12. ↓

13. Frameshift Mutations
• Frameshift Mutations: Frameshift Mutation is
insertion or deletion of one or more bases into or from
the DNA sequence.
• This effect on every amino acid in the protein and it
makes protein nonfunctional.
Example:

14. Frameshift Mutation:

15. Chromosomal Mutations:
4 types of chromosomal Mutations:
• Translocation: A chromosomal segment is transferred
to a new position on the same or another chromosome
• Deletion: the loss or absence of one or more
nucleotides from a chromosome
• Inversion: Part of a chromosome breaks out and is
reinserted backwards
• Insertion: Part of the chromosome is broken off and
attaches to the sister chromatid.

16. Chromosomal Mutations:

17. Causes of Genetic Mutations:
• Sometimes it happens for no reason
(Spontaneous Mutations).
• Environmental Causes:
-UV light
- Radiation
- X-rays
-Some Chemicals

18. Genetic Disorders:

20. Cystic Fibrosis

21. OsteogenesisImperfecta

22. Multiple Neurofibromastosis
• genetically-inherited disorder
• Multiple begins tumors that form in skin

23. Klinefelter’s Syndrome
• Males have XXY sex chromosomes:

24. Twin-to-Twin Transfusion Syndrome
• Due to placental abnormality, one twin
receives too much blood and the other
does not receive enough.

25. Fragile X Syndrome