Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics

Citation
N. Lambiris et al., Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics, HUM GENET, 105(3), 1999, pp. 258-260
Citations number
12
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
0340-6717 → ACNP
Volume
105
Issue
3
Year of publication
1999
Pages
258 - 260
Database
ISI
SICI code
0340-6717(199909)105:3<258:RFAOFB>2.0.ZU;2-6
Abstract
Fragile-X syndrome, a frequent cause of inherited mental retardation, is ch aracterised in almost all cases by a COG-repeat expansion that is located w ithin the FMR-I gene and that prevents the expression of fragile-X mental r etardation protein (FMRP). We describe a test that simultaneously allows th e rapid detection of FMRP in fetal lymphocytes and distinguishes these from fetal erythrocytes. Routine molecular genetic methods fail in the rare cas es where protein expression is blocked, although there is no repeat expansi on. Furthermore, they are unsuitable in cases of advanced pregnancy. Our te st proves extremely valuable under both these circumstances.