trinucleotide repeat disease
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 diseaseDNA 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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.