脆性X综合征的分子遗传学研究进展  

Progress of Molecular Genetics Study on Fragile X Syndrome

作　　者：周海燕[1] 陈勇[1] 倪斌[1] 

机构地区：[1]湖南省计划生育研究所现代优生技术湖南省重点实验室,中国湖南长沙410005

出　　处：《生命科学研究》2005年第S1期43-47,共5页Life Science Research

基　　金：湖南省科技计划项目(科技攻关04sk3031)

摘　　要：脆性X综合征是常见的遗传性智力低下性疾病,其发病率高,临床表现复杂,遗传规律独特,对脆性X 综合征的发病机理和脆性X综合征筛查与诊断方法等方面的一些研究进展进行了综述.Fragile X syndrome represents the most common cause of inherited retardation. It is caused by a dynamic mutation and the mechanism responsible for the characteristic expansion of the trinucleotide repeat involved in the pathogenesis of the fragile X syndrome which is still largely unclear. Due to the highly variable phenotype, clinical diagnosis is complicated. The molecular mechnism of screening and diagnosis of fragile X syndrome are reviewed.

关 键 词：脆性X综合征 FMR-1基因 基因诊断 

分 类 号：R749.99[医药卫生—神经病学与精神病学]