脊髓小脑性共济失调2型的分子遗传学诊断及临床分析  

Molecular Genetic Diagnosis and Clinical Analysis of Characteristics of Spinocerebellar Ataxia Type 2

作　　者：王进[1] 李桂冰[1] 罗曼[1] 王栋慧[1] 

机构地区：[1]广西医科大学第一附属医院老年神经内科,530021

出　　处：《中国临床神经科学》2009年第1期12-15,共4页Chinese Journal of Clinical Neurosciences

基　　金：广西自然科学基金资助项目(桂科自0339049);广西研究生教育创新计划资助课题(2007105981002M14)

摘　　要：目的:研究分析脊髓小脑性共济失调2型(SCA2)的分子遗传学诊断、应用以及临床表现特征。方法:对来自广西地区临床诊断为SCA的1个家系2例患者和8名"健康"家系成员,以及35名正常对照人员,通过聚合酶链式反应、琼脂糖电泳等技术检测SCA2基因位点内CAG三核苷酸重复扩增次数,并对异常等位基因片段进行DNA测序。结果:我国广西正常人群SCA2等位基因CAG重复数为20～29次,1家系中2例患者与1例症状前患者存在SCA2(CAG)n扩展突变,拷贝数分别为42、45、55次。结论:首次发现广西SCA2,利用分子遗传学分析可进行SCA2基因诊断,为症状前诊断及遗传咨询提供依据。Aim:To study the molecular genetic diagnosis and clinical characteristics of spinocerebellar ataxia type 2(SCA2).Methods:This study includes 2 patients with autosomal dominant SCA from 1 family, 8 healthy individuals from the SCA family and 35 normal controls.The SCA2(CAG)n mutations were detected by polymerase chain reaction and agarose electrophoresis.The abnormal allele fragments were sequenced by sequencing machine.Results:Normal alleles of SCA2 were found to have 20 to 29 CAG repeats.Two SCA patients a...

关 键 词：脊髓小脑性共济失调 基因突变 三核苷酸重复 

分 类 号：R744.7[医药卫生—神经病学与精神病学]