通过发根分析对智力迟钝男性进行脆性X综合征筛查。

Screening for the fragile X syndrome among mentally retarded males by hair root analysis.

作者信息

Tunçbilek E, Alikasifoğlu M, Aktas D, Duman F, Yanik H, Anar B, Oostra B, Willemsen R

机构信息

Department of Pediatrics, Division of Medical Genetics, Hacettepe University, Ankara, Turkey.

出版信息

Am J Med Genet. 2000 Nov 13;95(2):105-7. doi: 10.1002/1096-8628(20001113)95:2<105::aid-ajmg3>3.0.co;2-6.

DOI:10.1002/1096-8628(20001113)95:2<105::aid-ajmg3>3.0.co;2-6

PMID:11078558

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 special schools. Patients were divided into two groups, based on the scores according to a fragile X check list (Group 1 </= 9 points and Group 2 >/= 10 points). Group 2 consists of 51 males and only 5 males in this group showed no FMRP expression in hair roots within the abnormal range (91%). Fragile X diagnosis in these cases was confirmed 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.

摘要

基于发根中缺乏脆性X智力低下蛋白（FMRP），采用一种非侵入性抗体检测来识别特殊教育学校中的男性脆性X患者。我们研究了300名就读于特殊学校、病因不明的智力障碍男性。根据脆性X检查表的得分将患者分为两组（第1组得分≤9分，第2组得分≥10分）。第2组有51名男性，该组中只有5名男性发根中的FMRP表达不在异常范围内（91%）。这些病例的脆性X诊断通过DNA分析得以证实。检查表得分超过10分的男性中，没有一例通过DNA分析被诊断为脆性X综合征阳性。通过我们对发根的抗体检测，在第1组中未检测到脆性X患者。发根的FMRP抗体检测适用于对就读于特殊教育学校的智力障碍男性进行脆性X综合征筛查。