premutation

(pre?mu-ta'shun) A sequence of multiply repeated nucleotides that may produce a disease in one's offspring but may not produce clinically apparent disease in the carrier. A common premutation occurs in the Fragile X syndrome, in which ancestors of affected children may have 50 — 200 copies of the trinucleotide sequence CGG. These individuals do not have the full phenotypic expression of the Fragile X syndrome but as adults may suffer Parkinson-like movement disorders such as ataxia and tremors. Synonym: intermediate allele

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

单词	premutation
释义	premutation premutation [‚prē·myü′tā·shən] (genetics) A heritable change, such as a trinucleotide repeat expansion, that has no phenotypic effect but greatly increases the likelihood of a further change at the altered site, resulting in a characteristic phenotype. premutation premutation (pre?mu-ta'shun) A sequence of multiply repeated nucleotides that may produce a disease in one's offspring but may not produce clinically apparent disease in the carrier. A common premutation occurs in the Fragile X syndrome, in which ancestors of affected children may have 50 — 200 copies of the trinucleotide sequence CGG. These individuals do not have the full phenotypic expression of the Fragile X syndrome but as adults may suffer Parkinson-like movement disorders such as ataxia and tremors. Synonym: intermediate allele 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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