Goal 5:

1. Goal 5: Gene Mutations

2. Mutation- permanent change in the DNA of an organism • Germ Line mutations-occur in gametes • Somatic mutations-occurs in body cells • Lethal mutations-mutations that cause • death before birth

3. II. Specific types of mutations A. Chromosome mutations - changes in the chromosome or addition/loss of a chromosome

4. 1. Deletion- loss of a piece of chromosome • 2. Inversion - chromosome will switch parts of a chromosome • Results in pieces of chromosomes in backwards order

5. 3. Translocation-a piece of chromosome breaks off and reattaches to another chromosome Ex: a piece of chromosome 9 breaking off and attaching to chromosome 22, this is shown to cause leukemia 4. Duplication – addition of a piece of chromosome

7. Point Mutations Occur at a single point in the DNA sequence Usually change 1 amino acid in the protein

8. Substitution: Substitute one base for another. THE DOG BIT THE CAT THE DOG BIT THE CAR AAA GGG CCC AAA TTT AAA GGG CCC AAA TTA

10. Frame shift Mutations Shift the 3-letter groupings over by 1 letter Affects every amino acid that follows the mutation Can make a protein unable to perform normal functions

11. INSERTION: Insert 1 base THE DOG BIT THE CAT THE DOG BBI TTH ECA T AAA GGG CCC AAA TTT AAA GGG CCC CAA ATT T

12. DELETION: Delete 1 base THE DOG BIT THE CAT THE DOG ITT HEC AT AAA GGG CCC AAA TTT AAA GGG CCA AAT TA