title: Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics.
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.
authors.affiliation: Institute of Medical Genetics, Medical School Charité, Humboldt-University, Berlin, Germany.
authors.forename: N
authors.initials: N
authors.lastname: Lambiris
authors.forename: H
authors.initials: H
authors.lastname: Peters
authors.forename: R
authors.initials: R
authors.lastname: Bollmann
authors.forename: G
authors.initials: G
authors.lastname: Leschik
authors.forename: J
authors.initials: J
authors.lastname: Leisti
authors.forename: R
authors.initials: R
authors.lastname: Salonen
authors.forename: G
authors.initials: G
authors.lastname: Cobet
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: R
authors.initials: R
authors.lastname: Willemsen
mesh_terms: D005260:Female; D005312:Fetal Blood / Q000737:chemistry*; D005333:Fetus; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis; D005865:Gestational Age; D006801:Humans; D007150:Immunohistochemistry; D008214:Lymphocytes / Q000737:chemistry / Q000166:cytology; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D016601:RNA-Binding Proteins
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human