Mutations

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  • Mutations
    • Some definitions
      • A change in the amount of or arrangement of the genetic material in a cell
      • A chromosome mutation is a change to the structure of the chromosome (on a larger scale)
    • Causes
      • Mutagens -  e.g. tobacco tar, x-rays, UV & gamma
      • Spontaneous mistake during DNA replication
        • Mitosis = somatic mutation, not passed on
        • Meiosis = possible inherited disease
    • Kinds of DNA mutation
      • Point mutation = one base pair replaces another
        • Silent mutation = correct AA still chosen due to the degenerate code
      • Insertion / Deletion = 1 or more nucleotide pairs are inserted or deleted from a length of DNA
    • Examples
      • Sickle cell anaemia = a point mutation
      • Cystic fibrosis = deletion of a triplet of bases
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