Trinucleotide repeat disease | definition of trinucleotide repeat disease by Medical dictionary
trinucleotide repeat disease
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
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.
References in periodicals archive
This includes disorders like neuronal degeneration and trinucleotide repeat disease
Fragile X is a trinucleotide repeat disease
caused predominantly by the expansion of CGG sequences in the 5' region of the fragile X mental retardation 1 (FMR1) gene.
FXS is a trinucleotide repeat disease
caused predominantly by the expansion of CGG sequences in the 5' untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene.