examples of mutations T 24 final exam.txt

  1. Transition
    ie chrom 16, a1 globulin gene & a2 globulin gene produce SAME polypeptide, despite several synonymous mutations
  2. Transversion
    • ie Sickle Cell anemia: chrom 11, 6th codon on b-globulin mutates from 5-TTC-3' --> 5-TAC-3', changing protein from Glutamic acid --> valine
    • Sickle cell shape seen
  3. Frameshifts
    Cystic Fibrosis: involves 3bp deletion on chrom 7 (loss of aa)
  4. Deletions
    Cri-du-chat syndrome: part of chrom 5 deleted
  5. Duplications
    • Huntington's disease: high # of 5-CTG-3' repeats on chrom 4, leads to high # of abnormal poly-glutamine protein syn
    • Tandem mutation
  6. Inversions
    • Cri-du-chat: can result from partial INVERSION of arm of chrom 5
    • Pancentric mutation
  7. Translocations
    • Chronic myebid leukemia: Philadelphia chrom in humans, caused by partial exchange of gene regions b/w chrom 9 and 22
    • Reciprocal mutation
Card Set
examples of mutations T 24 final exam.txt
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