Inheritance - trinucleotide repeat sequences

Definition

  • Trinucleotide repeat expansion disorders are caused by an abnormal expansion of a repeating three-nucleotide DNA sequence beyond a normal threshold length - with the degree of expansion generally correlating with disease severity/age of onset
  • A recognised mechanism across several important neurological/neuromuscular disorders - Huntington disease (CAG), myotonic dystrophy (CTG), fragile X syndrome (CGG), and several spinocerebellar ataxias (predominantly CAG)

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