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
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References in periodicals archive ?
( )ne of the most common trinucleotide repeat disorders is
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.
Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.
Testing for FXS and similar trinucleotide repeat disorders (e.g., myotonic dystrophy, Huntington disease, spinocerebellar ataxias, spinal and bulbar muscular atrophy, and Friedreich ataxia) is typically performed using Southern blot (5) or, more recently, by PCR and capillary electrophoresis (6, 7).