title: Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.
abstract: To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means of the polymerase chain reaction and Southern blot analysis. This direct DNA analysis allows both the size of the CGG repeat and methylation status of the FMR1 gene to be determined. We have recently presented a rapid antibody test on blood smears based on the presence of FMRP, the protein product of the FMR1 gene, in lymphocytes from normal individuals and the absence of FMRP in lymphocytes from patients. Here, we have tested the diagnostic value of this new technique by studying FMRP expression in 173 blood smears from normal individuals and fragile X patients. The diagnostic power of the antibody test is "perfect" for males, whereas the results are less specific for females.
authors.affiliation: MGC Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
authors.forename: R
authors.initials: R
authors.lastname: Willemsen
authors.forename: A
authors.initials: A
authors.lastname: Smits
authors.forename: S
authors.initials: S
authors.lastname: Mohkamsing
authors.forename: H
authors.initials: H
authors.lastname: van Beerendonk
authors.forename: A
authors.initials: A
authors.lastname: de Haan
authors.forename: B
authors.initials: B
authors.lastname: de Vries
authors.forename: A
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: E
authors.initials: E
authors.lastname: Sistermans
authors.forename: H
authors.initials: H
authors.lastname: Galjaard
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
mesh_terms: D000911:Antibodies, Monoclonal / Q000276:immunology; D005069:Evaluation Studies as Topic; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D009419:Nerve Tissue Proteins / Q000032:analysis / Q000235:genetics / Q000276:immunology; D016601:RNA-Binding Proteins
chemical_list: D000911:Antibodies, Monoclonal; D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human