1. Gene Mutations Chromosome Mutations

2. What happens when there is a mistake during replication?
What could go wrong when the DNA is being replicated?

3. Gene Mutations Point Mutations A. Substitution Frame shift Mutations
Insertion
Deletion

4. Point Mutations – substitution
One WRONG BASE is used
Original The fat cat ate the wee rat.
Mutation The fat hat ate the wee rat

5. Examples of Point Mutations
Sickle Cell Anemia

6. Examples of Point Mutations
Tay Sachs Hemophilia B

7. Frame Shift Mutations A Insertion AAT AGG CAG GTT
Deletion AAT AGG CAG GTT

8. Frame Shift Mutations A Insertion AAT AGG CAG GTT
becomes AAT AAG GCA GGT …
Deletion AAT AGG CAG GTT
becomes AAA GGC AGG …

9. Frame Shift Original The fat cat ate the wee rat.
Insertion The fat caa tet hew eer at.

10. Example of Frame Shift Mutation:
Huntington’s Disease

11. Chromosome Mutations 1. Inversions 2. Duplications 3. Deletions
4. Translocations

13. Incorrect Chromosome Number – from nondisjunction during meiosis
Trisomy 21 causes Down’s Syndrome