Screening for the fragile X syndrome among mentally retarded males by hairroot analysis

Citation
E. Tuncbilek et al., Screening for the fragile X syndrome among mentally retarded males by hairroot analysis, AM J MED G, 95(2), 2000, pp. 105-107
Citations number
14
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
95
Issue
2
Year of publication
2000
Pages
105 - 107
Database
ISI
SICI code
0148-7299(20001113)95:2<105:SFTFXS>2.0.ZU;2-P
Abstract
A noninvasive antibody test was used to identify male fragile X patients in special education schools, on the basis of the lack of FMRP in hair roots. We studied 300 males with mental retardation of unknown cause attending sp ecial schools. Patients were divided into two groups, based on the scores a ccording to a fragile X check list (Group 1 less than or equal to 9 points and Group 2 greater than or equal to 10 points). Group 2 consists of 51 mal es and only 5 males in this group showed no FMRP expression in hair roots w ithin the abnormal range (91%), Fragile X diagnosis in these cases was conf irmed by DNA analysis. None of the males scoring more than 10 on the check list was diagnosed positive for the fragile X syndrome using DNA analysis. With our antibody test on hair roots we did not detect a fragile X patient in Group 1, The FMRP antibody test on hair roots is suitable in a screening program for the fragile X syndrome among mentally retarded males attending special education schools. (C) 2000 Wiley-Liss.