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Huntington’s Disease

  • polyglutamine trinucleotide repeat expansion disease
  • chromosome 4p16.3
  • protein called huntingtin
  • Cytosine Adenine Guanine (CAG) repeats in the first exon
    • up to 28 repeats - normal range
    • 29-34 repeats - individual will not develop HD, next generation at risk
    • 40 or more repeats - individual will develop HD