Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics.
Hum Genet
; 105(3): 258-60, 1999 Sep.
Article
em En
| MEDLINE
| ID: mdl-10987654
ABSTRACT
Fragile-X syndrome, a frequent cause of inherited mental retardation, is characterised in almost all cases by a CGG-repeat expansion that is located within the FMR-1 gene and that prevents the expression of fragile-X mental retardation protein (FMRP). We describe a test that simultaneously allows the rapid detection of FMRP in fetal lymphocytes and distinguishes these from fetal erythrocytes. Routine molecular genetic methods fail in the rare cases where protein expression is blocked, although there is no repeat expansion. Furthermore, they are unsuitable in cases of advanced pregnancy. Our test proves extremely valuable under both these circumstances.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação a RNA
/
Sangue Fetal
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Alemanha