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Mutations

Mutations. Definition: changes to an organism’s DNA sequence. Genetic Disorders in Humans.

cheryl-montgomery
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Mutations

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

  2. Genetic Disorders in Humans Sickle-Cell Disease Hemophilia albinism Phenylketonuria Cystic Fibrosis Tay Sachs Disease colorblindnessAdrenoleukodystrophy (Lorenzo's Oil)Herditary DeafnessCoffin-Lowry SyndromeAchondroplasia (dwarfism)Fragile X Syndrome Huntington's DiseaseMarfan Syndrome (Alton Giant)Trisomy 13 (Edward's Syndrome)Phenylketonuria (PKU)Rett SyndromeKlinefelter SyndromeTurner SyndromeRett SyndromeProgeria (premature aging)Xeroderma pigmentosumGaucher DiseasePrader-Willi SyndromeDuchenne Muscular Dystrophy Can we cure these disorders?

  3. X-Men…and women

  4. Albinism

  5. Progeria

  6. Marfan Syndrome

  7. What causes mutations?

  8. 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

  9. How do mutations change a trait? • Normal • Mutation • Example

  10. 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

  11. Substitution • Substitution: One base is switched for another • THE FAT CAT ATE THE RAT. • THE FAT CAP ATE THE RAT. ??

  12. Substitution DNA: CCT GAG GAG CCT GTG GAG Pro –Glu– Glu Pro – Val – Glu • One base is changed, so only one amino acidcould be changed

  13. Substitution: Example Ryan Clark Sickle Cell Anemia Abnormal hemoglobin that distorts red blood cells 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

  14. 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.

  15. Fruit Flies and Mutations

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