直接检测IT15基因（CAG）n重复对亨廷顿氏病进行基因诊断  

Direct Detection of the Expanded CAG Kepeat in IT15 Gene for Molecular Diagnosis of Huntington'sDisease

作　　者：毛跃华[1] 周刚[1] 陈美珏[1] 任兆瑞[1] 曾溢滔[1] 王秀英[1] 许志大[1] 

机构地区：[1]上海市儿童医院,上海医学遗传研究所,徐州医学院附属医院

出　　处：《高技术通讯》1995年第5期1-6,共6页Chinese High Technology Letters

基　　金：863计划资助项目

摘　　要：应用巢式ＰＣＲ和变性聚丙烯酰胺凝胶电泳放射自显影鉴定ＩＴ１５基因（ＣＡＧ）ｎ串联重复序列拷贝数的技术，对４０名正常中国人以及徐州和浙江两大亨廷顿氏病（ＨＤ病）家系４６名家庭成员进行了分析。结果表明，正常一国人ＩＴ１５基困（ＣＡＧ）ｎ拷贝数为１６左右，而ＨＤ患者的突变基因（ＣＡＧ）ｎ拷贝数均大于４０，两者之间不重叠。对３８名ＨＤ病高风险者进行症状前分子诊断，揭示１１名家庭成员为ＨＤ基因的携带者，与家系调查和临床分析的结果相吻合。本文结果不仅证明ＩＴ１５基因的动态突变也是导致中国人ＨＤ病的遗传学基础，而且为ＨＤ病的基因诊断、遗传咨询和遗传保健提供了科学资料。We used nested PCR and denaturing polyacrylamide gel electrophoretic autoradiography to analyze thenormal and expanded alleles of the(CAG)n repeat in the IT15 gene in Chinese normal and Huntington(HD)chromosmes.A total of 40 normal controls as well as4 6 related members of two HD pedigrees fromXuzhou and Zhejiang,respectively, were studied.The results showed that the normal alleles containedapproximately 16 CAG repeat,while all the HD alleles had over 40 copies of(CAG)n and there was nooverlap between the normal and affected alleles. The presymptomatic diagnosis of 38 family members atrisk for HD disclosed that 11 subjects carried the affected alleles,which was in accordance with the pedigreeinvestigation and clinical analysis. All these results indicated that the dynamic mutations in IT15 gene wereresponsible for HD in the Chinese. They provide valuable data for HD molecular diagnosis,geneticcounselling and genetic health.

关 键 词：亨廷顿氏病 IT15基因 基因诊断 舞蹈病 

分 类 号：R742.204[医药卫生—神经病学与精神病学]