trinucleotide repeat disorders

trinucleotide repeat disorders
triplet repeat disorders disorders caused by unstable, dynamic mutations that result in expansion of triplet repeats within the affected gene, leading to abnormalities in gene expression and function. The disorders differ significantly in such factors as inheritance pattern; base sequence, size, and intragenic location of the affected repeat; and degree of expansion and of instability of the repeats; but the underlying mechanism appears to be slipped strand mispairing during DNA replication. The group includes Huntington disease, myotonic dystrophy, Friedreich ataxia, and fragile X syndrome.

Medical dictionary. 2011.

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