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Mutations

Mutations. Chapter 12-4. What are mutations?. Any change to the genetic code Gene mutations: A change in one or a few nucleotides in a gene Chromosomal Mutations: a change in the number or structure of chromosomes. What are mutations?. Gene mutations

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Mutations

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  1. Mutations Chapter 12-4

  2. What are mutations? • Any change to the genetic code • Gene mutations: • A change in one or a few nucleotides in a gene • Chromosomal Mutations: • a change in the number or structure of chromosomes

  3. What are mutations? • Gene mutations • 1) point mutation (substitution): Change of 1 base into another resulting in a change in 1 amino acid in the sequence

  4. Effects of substitutions • Some substitutions result in coding for same amino acid • Some change amino acid but doesn’t affect overall protein • Some change 1 amino acid and changes structure of entire protein

  5. Sickle Cell Anemia Normal hemoglobin Sickle Cell Hemoglobin

  6. 2) Frameshift: Shift in the reading frame that causes every amino acid after the mutation to be different. (Caused by Insertion or deletion) Deletion Insertion

  7. Effects of Frameshift mutations • Good: • disables CCR5 HIV receptor which allows HIV virus to attack Immune cells • Mutations that allow evolution of species (survival of the fittest) • Bad: Causes severe disorders: • Tay Sachs • Chron’sdiseas • Color Blindness

  8. What are mutations? • Chromosomal mutations: • A change in one or a few chromosomes • 4 Types: • 1) Deletion: Loss of part / all • 2) Duplication: Segment is repeated • 3) Inversion: Segment is reversed • 4) Translocation: Segment breaks off and is reattached

  9. Effects Down Syndrome Turners Syndrome

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