Trinucleotide Repeat Disorder

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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
References in periodicals archive ?
We now understand that it is one of a group of conditions called trinucleotide repeat disorders, and a very brief description of the chemical structure of chromosomes will help to explain how these disorders arise.