Slight instability of a FMR-1 allele over three generations in a family from the general population.
Am J Med Genet
; 64(2): 268-9, 1996 Aug 09.
Article
em En
| MEDLINE
| ID: mdl-8844062
ABSTRACT
We report on a family segregating a FMR-1 allele within the "grey zone" of triplet repeat length (n = 51). The allele showed a 1-unit increment when transmitted through a female meiosis and a 1-unit increment when transmitted through a male of the next generation. At the following generation, a pregnant woman had amniocentesis performed. The latter showed she transmitted the allele unchanged (n = 53) to her male fetus. This family was not ascertained through an affected subject, and there was no family history of mental retardation. Thus our observation reflects the natural history of an unstable allele in the general population. Systematic analysis of such alleles may help refine our understanding of the grey zone of triplet repeat length.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação a RNA
/
Repetições de Trinucleotídeos
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
/
Screening_studies
Limite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Ano de publicação:
1996
Tipo de documento:
Article