原发性肌张力障碍患者脊髓小脑性共济失调1～3型基因突变的研究  

Study on the gene mutation of spinocerebellar ataxia types 1～3 in patients with primary dystonia

作　　者：李桂冰[1] 王进[1] 

机构地区：[1]广西医科大学附属第一医院神经内科,南宁市530021

出　　处：《临床神经病学杂志》2008年第5期324-325,共2页Journal of Clinical Neurology

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项目(2007105981002M14)

摘　　要：目的研究原发性肌张力障碍患者脊髓小脑性共济失调(SCA)1～3型基因的突变。方法采用聚合酶链反应(PCR)方法对一家父子2例原发性肌张力障碍患者及其21名家系健康成员SCA1～3型基因CAG重复数进行检测。结果2例原发性肌张力障碍患者SCA3基因突变,其异常等位基因的CAG重复数为80和75;SCA1、SCA2基因无突变。家系健康成员SCA1～3基因均无突变。结论原发性肌张力障碍患者有SCA3基因突变;其可能与原发性肌张力障碍的发病有关。Objective To study the gene mutation of the spinocerebellar ataxia(SCA) types 1～3 in the patients with primary dystonia.Methods The CAG triplet repeat expansion of SCA1～3 were detected with the polymerase chain reaction(PCR) in two patients with primary dystonia(father and son) and their 21 health family members.Results The two patients with primary dystonia were found to have the gene mutation of SCA3,the CAG repeat were 80 and 75 respectively.The gene mutations of SCA1,2 were not found in the two patients...

关 键 词：原发性肌张力障碍 脊髓小脑性共济失调 CAG重复 

分 类 号：R746[医药卫生—神经病学与精神病学]