SLIGHT INSTABILITY OF A FMR-1 ALLELE OVER 3 GENERATIONS IN A FAMILY FROM THE GENERAL-POPULATION

Citation
Mj. Abramowicz et al., SLIGHT INSTABILITY OF A FMR-1 ALLELE OVER 3 GENERATIONS IN A FAMILY FROM THE GENERAL-POPULATION, American journal of medical genetics, 64(2), 1996, pp. 268-269
Citations number
5
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
64
Issue
2
Year of publication
1996
Pages
268 - 269
Database
ISI
SICI code
0148-7299(1996)64:2<268:SIOAFA>2.0.ZU;2-K
Abstract
We report on a family segregating a FMR-1 allele within the ''grey zon e'' of triplet repeat length (n = 51). The allele showed a 1-unit incr ement when transmitted through a female meiosis and a 1-unit increment when transmitted through a male of the next generation. At the follow ing generation, a pregnant woman had amniocentesis performed. The latt er showed she transmitted the allele unchanged (n = 53) to her male fe tus. This family was not ascertained through an affected subject, and there was no family history of mental retardation. Thus our observatio n reflects the natural history of an unstable allele in the general po pulation. Systematic analysis of such alleles may help refine our unde rstanding of the grey zone of triple repeat length. (C) 1996 Wiley-Lis s, Inc.