1. Mutations

2. Cystic Fibrosis – recessive condition Mutation of the gene for the protein CFTR CFTR regulates sodium levels across cell membranes Causes respiratory problems

3. Tay-Sachs – recessive condition Mutation of a gene for a lipid-processing enzyme Abnormal lipids accumulate in the brain Causes severe retardation and death by age 4

4. PKU – recessive condition Mutation of the gene that produces phenylalanine hydroxylase Causes progressive retardation

5. Sickle Cell Anemia – recessive condition Mutation of the gene that creates hemoglobin Causes the blood cell to form into sickle Causes anemia and clotting

6. Benefits of having Mutations

7. Sickle Cell anemia Having TWO copies of the gene causes the disease. Having ONE copy of the gene provides immunity to malaria

8. Tay-Sachs Having TWO copies of the gene causes the disease Having ONE copy of the gene gives partial immunity to Tuberculosis

9. PKU Having TWO copies gives the disease Having ONE copy of the gene means increased protection from ochratoxin A. Ochratoxin A is a toxin from a grain fungus.

10. Cystic Fibrosis Having TWO copies of the gene cause the disease. Having ONE copy of the gene gives partial immunity to cholera.