脆性X综合征的多重甲基化特异性PCR分析：宋卡纳卡林医院的经验

Multiplex methylation specific PCR analysis of fragile X syndrome: experience in Songklanagarind Hospital.

作者信息

Charalsawadi Chariyawan, Sripo Thanya, Limprasert Pornprot

机构信息

Department of Biomedical Science, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.

出版信息

J Med Assoc Thai. 2005 Aug;88(8):1057-61.

PMID:16404832

Abstract

Methylation specific PCR (MS-PCR) is a technology for a sensitive detection of methylation in the gene. This assay was developed for diagnosis of methylation-related diseases including fragile X syndrome (FXS), the most common X-linked mental retardation caused by a CGG trinucleotide repeat expansion. Affected individuals (full mutation, FM) have CGG greater than 200 repeats, while normal individuals and premutation (PM) carriers have 6-54 and 55-200 repeats, respectively. Only FM individuals are correlated with methylation of the gene. The authors tested this assay on known 35 DNA samples (15 normal, 2 PM and 18 FM) and a prospective study of 60 males referred for FXS screening in Songklanagarind hospital. In addition, the authors tested on 2 prenatal cases. All results were corresponded to PCR for CGG repeats and/ or Southern blot analysis. The authors concluded that MS-PCR provides an accurate method for methylation detection of FXS.

摘要

甲基化特异性PCR（MS-PCR）是一种用于灵敏检测基因甲基化的技术。该检测方法是为诊断与甲基化相关的疾病而开发的，包括脆性X综合征（FXS），这是由CGG三核苷酸重复扩增引起的最常见的X连锁智力障碍。受影响个体（全突变，FM）的CGG重复次数大于200次，而正常个体和前突变（PM）携带者的CGG重复次数分别为6 - 54次和55 - 200次。只有FM个体与该基因的甲基化相关。作者在已知的35个DNA样本（15个正常样本、2个PM样本和18个FM样本）上测试了该检测方法，并对宋卡纳卡林医院转诊进行FXS筛查的60名男性进行了前瞻性研究。此外，作者还对2例产前病例进行了测试。所有结果均与CGG重复序列的PCR和/或Southern印迹分析结果一致。作者得出结论，MS-PCR为FXS的甲基化检测提供了一种准确的方法。