脆性X综合征的筛查及基因诊断

目的：建立一种简便快速初步筛查脆性X综合征智力缺陷基因FMR－1突变的方法。方法：采用套式PCR技术对新生儿及婴幼儿的足跟血X染色体上基因FMR－1CGG重复序列进行扩增，通过以其拷贝数的鉴定筛查其突变型。结果：共筛查5200全新生儿和婴幼儿，查出1例男婴患者，其母亲是携带者。结论：套式PCR能简便快速地初筛出人群中携带者和可疑患者，对脆性X综合征的早期诊断和产前诊断有应用价值。

Frangile X syndrome:gene testing and population screening

Objective:To invent a simple and rapid way for primary screening the mutation of FMR-1 gene(fraX mental retardation-lgene).Methods:the Nested-PCR technology was employed to amplify a CGG repeat sequence at the 5'end of the FMR-1 gene on X chromosome in heel-blood of the new-borns and infants,and the mutation of the gene was screened out according to CGG copies.The Results:5200 babies was examined and a fragile X syndrome baby was diagnosed,hismother is a fragile X carrier.The Conclusion:the Nested-PCR can be used for population screening fragile X carriers and diagnosis of suspicious individuals in a simple and rapid way,so it is valuable for early diagnosis and prenatal diagnosis of fragile X syndrome.