应用多聚酶链式反应快速分析FMR-1基因突变

为了建立一种在先天性智力低下患儿中快速分析脆性X综合征智力低下基因1(Fragile X mental retardation gene 1.FMR-1)突变的方法，对先天性智力低下儿童进行脆性X综合征的大面积筛查和诊断，应用复式多聚酶链式反应一次性扩增FMR-1基因的(CGG)n的重复区，分析CGG重复序列的大小，判断FMR-1基因状态(正常、突变前、突变后)，对脆性X综合征可疑患儿快速筛查，在113倒不明原因的先天性智力低下患儿中，分析有脆性X综合征携带者(FMR-1基因前突变者)7例(2男5女)，脆性X综合征患者(FMR-1基因突变者)5例，应用多聚酶链式反应可以对脆性X综合征可疑患儿进行大面积初筛，确定携带者和患者。

Analysis of FMR-1 Gene Mutation by PCR Assay

To establish a rapid method for screening and diagnosing fragile x syndrome among mentally retarded children by analyzing the FMR-1 gene mutation. The trinucleotide repeats (CGG) n in the FMR-1 gene was amplified by PCR and affected patients could be examined, according to analysis of the numbers of trinucleotide repeats determined the FMR-1 gene (the normal, premutation and mutation ). 7 carries (2 male and 5 female ) and 5 full mutation patients were examined in 113 cases with congenital mentally retarded children. The PCR method could be used to screen and diagnosis of fragile x syndrome.