一种经济的脆性X综合征的PCR检测法  

A economical method to analyze FraX by PCR assay

作　　者：蔡燕娜 李秀珍 华亮 邝璐 韩宁 

机构地区：[1]广州市妇女儿童医疗中心内分泌代谢科,510623

出　　处：《国际医药卫生导报》2011年第16期2028-2030,共3页International Medicine and Health Guidance News

摘　　要：目的建立一种经济的用于脆性x综合征临床大面积筛查的简便的检测方法。方法同时用加入betaine作为PCR增强剂的扩增体系和用PfxAmpTaq酶Enhance扩增体系检测脆性x综合征（FraX）FMR-1基因，检N（CGG）n重复数的多少，对脆性x综合征可疑病人进行筛查。结果扩增目的片段为237—372bp，样本未见扩增片段的为脆性x综合征患者。样本可见明显扩增片段的为正常人。在不明原因的智力低下的儿童中筛查出3例脆性x综合征患者。两种方法对FMR-1基因的CGG重复序列扩增效果均较好。结论用加入betaine扩增体系更经济可应用于临床大批量的标本筛查。Objective To establish a simple and economical method to diagnose fragile X syndrome （FraX） by analyzing the FMR-1 gene mutation. Methods On the basis of PCR, the crowd with normal phenotype was screened and detected by PfxAmpTaq enzyme and betaine at the same time. Results 3 case of FraX were found among the hypophrenia children induced by unknown reasons. Improved PCR condition could increase the efficiency of amplification FMR-1 gene. Conclusion It is a more economical method to use amplification added with betaine to test FraX.

关 键 词：脆性X综合征 FMR-1基因 筛查 

分 类 号：R72[医药卫生—儿科] R4[医药卫生—临床医学]