Trinucleotide Repeat Disease

Trinucleotide Repeat Disorder

A class of clinically heterogenous disorders, defined by the presence of an abnormal and unstable expansion of DNA—triplet repeats—in the mutant gene, with up to 200 copies of the repeated trinucleotide
Examples Hereditary—CAG repeats (Huntington’s disease, Kennedy’s disease), CGG (fragile X syndrome), GCT (myotonic dystrophy, spinal and bulbar muscle atrophy); Acquired—some forms of colourectal CA

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trinucleotide repeat disease

DNA triplet disease, triplet disease Molecular medicine A class of clinically heterogenous diseases, defined by the presence of an abnormal unstable expansion of DNA–triplet repeats in the mutant gene, with up to 200 copies of the repeated trinucleotide Examples Hereditary–CAG repeats–Huntington's disease, Kennedy's disease, CGG–fragile X syndrome, GCT–myotonic dystrophy, spinal and bulbar muscle atrophy; acquired–some forms of colorectal CA. See Fragile X syndrome, Friedreich's ataxia, Huntington's disease, Machado-Joseph syndrome, X-linked spinal and bulbar muscular atrophy.