1. Definition: changes to an organism’s DNA sequence

2. Genetic Disorders in Humans Sickle-Cell Disease Hemophilia albinism Phenylketonuria Cystic Fibrosis Tay Sachs Disease colorblindness Adrenoleukodystrophy (Lorenzo's Oil) Herditary Deafness Coffin-Lowry Syndrome Achondroplasia (dwarfism) Fragile X Syndrome Huntington's Disease Marfan Syndrome (Alton Giant) Trisomy 13 (Edward's Syndrome) Phenylketonuria (PKU) Rett Syndrome Klinefelter Syndrome Turner Syndrome Rett Syndrome Progeria (premature aging) Xeroderma pigmentosum Gaucher Disease Prader-Willi Syndrome Duchenne Muscular Dystrophy

3. X-Men…and women

4. Albinism

5. Progeria

6. Marfan Syndrome

14. What causes mutations? Wrong base is added during DNA replication. Environmental factors: UV rays (sunlight, tanning beds) X-rays Radiation Chemicals Cigarette smoke Mutations can lead to cancer, diseases, nothing, or an advantage Mutations accumulate with age

15. How do mutations change a trait? GeneProteinTrait Mutation in Gene Produce wrong protein Different Trait Mutation Normal Example Mutation in melanin gene Do not make any of the protein melanin Trait is albino

16. What is a mutation? A change in the DNA nucleotides 2 general types: Point Mutation or Substitution 1 base in the DNA is changed or substituted for another Frame Shift Mutation 1 base is added or removed so the reading frame is shifted over

17. Substitution Substitution: One base is switched for another THE FAT CAT ATE THE RAT. THE FAT CAP ATE THE RAT.

18. Substitution DNA: CCT GAG GAG CCT GTG GAG Pro – Glu – Glu Pro – Val – Glu One base is changed, so only one amino acid could be changed

19. Ryan Clark January 3, 2012: “The Pittsburgh Steelers safety and leading tackler won’t play in Sunday’s NFL playoff game at the Denver Broncos due to a blood condition that led to major medial complications the last time he played in the mile-high altitude of Denver.” - From USAtoday.com Sickle Cell Anemia Abnormal hemoglobin that distorts red blood cells Substitution: Example

20. Frame Shift Mutation Insertion: A base is added to the DNA THE FAT CAT ATE THE RAT THE FAT ECA TAT ETH ERA. Deletion: A base is removed from the DNA THE FAT ATA TET HER AT  C in “CAT” is gone. Adding or deleting a base shifts the reading frame. All of the codons after the mutation are changed, so all the amino acids are changed.

21. Fruit Flies and Mutations