脆X相关失调症检测方法的研究进展

The detection methods for the fragile X-related disorders

脆性X相关失调症是一类由FMR1基因突变引起的失调症,包括脆X相关震颤/共济失调综合征(FXTAS)、脆性X相关原发性卵巢机能不全(FXPOI)、脆X综合征等。这些失调症绝大多数由FMR1基因5′末端(CGG)n重复片段异常扩增和异常甲基化导致的FMRP蛋白合成减少或缺失所致,尚无明确的临床诊断标准,一般依赖于医师个人评估,本文将对Southern blotting,PCR,蛋白检测等方法做出介绍,以期为临床医师提供参考。

Fragile X-related disorders are a group of disorders caused by mutations in the FMR1 gene,including fragile X-associated tremor/ataxia syndrome(FXTAS),fragile X-associated primary ovarian insufficiency(FXPOI),and fragile X syndrome.Most of these disorders are caused by instability of a CGG-repeat tract at the 5′end of the FMR1 transcript or abnormal methylation of the CpG residues in fanking region of FMR1 gene,these mutations will lead to the expression of FMPR reduced or silenced.There is no clear clinical diagnostic criteria yet,this article will introduce the detection methods as Southern blotting,PCR,protein detection,in order to provide reference for clinicians.