脆性X综合征的分子诊断学研究进展  

Advance in the Molecular Diagnosis Research of Fragile X Syndrome

作　　者：白永杰[1,2,3] 易咏红[1,2,3] 龙跃生[1,2,3] 

机构地区：[1]广州医学院第二附属医院,510260 [2]广州医学院神经科学研究所,510260 [3]广东省教育厅重点实验室

出　　处：《国际遗传学杂志》2008年第2期115-119,共5页International Journal of Genetics

基　　金：基金项目：国家自然科学基金资助项目（30370504）

摘　　要：脆性X综合征是发生遗传性智力低下的主要原因之一，其分子基础被认为是由定位在染色体Xq27．3的FMRl基因5＇-UTR的（CGG）。动态突变所引起。仅仅当（CGG）。重复超过一定的界限（全突变）时，才表现出其临床表型。脆性X综合征复杂的分子遗传学病理机制和独特的遗传方式为其实验室诊断和遗传咨询带来了极大的困难。目前对于脆性X综合征的诊断，主要依赖于实验室检查。该文就细胞遗传学、Southern印迹杂交、聚合酶链反应（PCR）、RT-PCR和免疫组化分析等方法进行综述，以期更好的指导临床诊断和遗传咨询。Fragile X syndrome （FXS） is one of the most prevalent cause of inherited mental retardation. The underling molecular alteration consists of a CGG-repeat dynamic mutation in the 5 ＇untranslated region within the FMR1 gene, which is located in the telomeric region of the long arm of the X chromosome, Xq27. 3. The phenotype is only apparent that the threshold in the number of repeats has been exceeded （full mutation）. Its complex molecular genetics of pathogenesis and its unusual pattern of inheritance pose an extraordinary challenge for its diagnostic evaluation in the laboratory and for the genetic counseling of affected families. This review summarizes currently available procedures for the diagnostic evaluation of the FRAXA syndrome, including cytogenetic, Southern-blot, polymerase chain reaction （PCR）, reverse transcription PCR （RT-PCR）, and immunohistochemical analyses.

关 键 词：脆性X综合征 分子诊断学 实验室诊断 细胞遗传学 

分 类 号：R[医药卫生]