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Mutations (DNA Repair (Base Excision Repair, Nucleotide Excision Repair,…

- - - - E.g. Beta-Thalassemia
        Hb -globin chain: amino acid 39 CAG (Gln)  TAG (Ter)
    - - E.g. Sickle cell disease (SCD
        a.a 6 GAG (Glu) GTG (Val)
        aggregation of -chain and
        deformation of overall shape
    - - e.g. alpha -Thalassemi
        a.a 142 TAA (Ter) —> CAA (Gln)
- - - - Forming a thymine dimer that prevent proper replication
      - Pyrimidine bases are highly sensitive
    - - Addition of alkyls (methyl, ethyl, occasionally propyl) groups to the bases/backbone of DNA
    - - resemble
        purines and/or pyrimidines
      - Bromouracil is an analog to thymine,
        and base pairs with guanine instead
        of adenine
    - - bases of DNA and insert between
        nucleotides
      - ethidium bromide,
      - old strand--insertion mutation new strand---deletion mutation