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Premutation

   Also found in: Encyclopedia 0.01 sec.
Premutation
A change in a gene that precedes a mutation; this change does not alter the function of the gene.
Mentioned in: Fragile X Syndrome
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In FXTAS, unlike fragile X syndrome, FMR1 gene produces a toxic messenger RNA because of the abnormally high numbers of the repeating DNA sequences (55-200 CGG units) called premutation.
NAF research grant summaries by Generations
However, when premutations are inherited by their daughters, instability in the series of CGGs can result in the occurrence of a full mutation during egg production.
Research 101 by Silverman, Wayne / The Exceptional Parent
This repeat expands into a premutation leading to FXTAS in older patients; further expansion into the full-mutation leads to fragile X syndrome in children.
Late onset ataxia due to a CGG repeat expansion in the FMR1 gene by Mayeur, Greg / Generations
 
 
 
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