Mutations are changes in the DNA sequence that can be caused by mistakes during DNA replication or by environmental factors like radiation. There are several types of mutations including point mutations, frameshift mutations, and chromosomal mutations. Point mutations involve a single DNA building block and can be missense, nonsense, or silent. Frameshift mutations are insertions or deletions that affect all subsequent amino acids. Chromosomal mutations involve changes in chromosome structure like translocations or deletions. Genetic mutations can cause disorders like cystic fibrosis, fragile X syndrome, and Klinefelter's syndrome.

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