脆性X综合征基因的快速直接筛查法  

A rapid method for direct screening the gene of fragile X syndrome

作　　者：朱宁宁[1] 范钰[1] 沈岩[1] 吴冠芸[1] 

机构地区：[1]中国医学科学院基础医学研究所,北京100005

出　　处：《中华医学检验杂志》1996年第2期89-91,共3页

基　　金：国家自然科学基金;美国中华医学基金资助

摘　　要：目的建立一种简便易行、可以快速筛查脆性 X 综合征突变基因的方法。方法用聚合酶链反应(PCR)扩增 FMR-1基因中 CGG 三核苷酸重复序列。通过测定样品中 CGG 重复序列的拷贝数判断 FMR-1基因是否正常、或处于前突变状态(携带者),从而对临床可疑病例进行快速筛查。结果在正常人中可扩出含20～30个 CGG 拷贝的片段;携带者可扩出50～100个拷贝;患者由于 CGG 拷贝数大于200而难以扩出。不能扩增的样品经 Southern 杂交法检测证实为脆性 X 综合征患者。结论这种方法可以快速、简便地从可疑人群中确定正常人与携带者,在脆性 X 综合征群体筛查中有实际应用价值。Objective To develop a simple method for rapid screening the gene of fragile X(Fra χ)syndrome(FMR-1).Methods The(CGG)n in the FMR-1 gene was amplified repeats by PCR. According to the number of trinucleotide repeat determined,the normal,premutant and affected pa- tients could be differentiated.Results The results showed that 20～30 and 50～100(CGG)n repeats were successfully amplified in normal and carriers of Fra X respectively,while the(CGG)n repeats of affected patients which were more than 200 copies could be checked further by Southern blot.Conclu- sions This is a rapid and simple method to identify normal and carrier from suspected individuals and to screen Fra X patients.

关 键 词：脆性X综合征 FMR-1基因 筛查法 

分 类 号：R596.04[医药卫生—内科学]