Huntington病两家系基因分析  

Gene analysis of two families with Huntington disease

作　　者：林珉婷 甘世锐[2] 陈万金[2] 林毅[2] 王柠[2] 吴志英[2] 慕容慎行[2] 

机构地区：[1]福建省神经病学研究所,福州350005 [2]福建医科大学附属第一医院神经内科

出　　处：《中国现代神经疾病杂志》2008年第2期124-128,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：福建省高等学校科技创新团队研究计划(项目编号:FMU-RT002)

摘　　要：目的建立准确而快速的IT15基因胞嘧啶-腺嘌呤-鸟嘌呤(CAG)重复序列检测方法,并应用于Huntington病患者的基因诊断及症状前诊断。方法应用聚合酶链反应、聚丙烯酰胺凝胶电泳及DNA测序技术对Huntington病两家系中的15名成员进行IT15基因CAG重复数目的检测及分析。结果两家系中共计检出8名成员携带异常的IT15基因,其中2例先证者CAG重复序列存在异常扩增,1例(AⅡ4)出现Huntington病临床表现,其余5例尚未出现Huntington病临床症状与体征。结论IT15基因CAG重复序列的异常扩增是Huntington病的发病基础,应用上述检测方法对IT15基因CAG重复序列进行检测可对Huntington病患者进行准确的基因诊断及症状前诊断。Objective To establish an accurate and rapid method to detect the repeated cytosine-adenine-guanine （CAG） sequence in ITI5 gene for the genetic diagnosis and presymptomatic diagnosis of the patients with Huntington disease （HD）. Methods Polymerase chain reaction （PCR）, polyacrylamide gel electrophoresis （PAGE） and DNA sequencing were applied to detect and analyse the repeated CAG sequence in ITI5 gene of 15 members in 2 HD families. Results Eight members from 2 HD families carried abnormal ITI5 gene, among them, 2 probands with abnormally amplified repeated CAG sequence, one member （A Ⅱ 4） with HD symptom and 5 members without HD symptom. Conclusion Abnormal amplification of CAG in ITI5 gene is the pathogenic basis of HD. The above methods for determining repeated CAG sequence in ITI5 gene can be used as an accurate genetic diagnosis and presymptomatic diagnosis for HD.

关 键 词：亨廷顿病 重复序列 核酸 基因 遗传学技术 

分 类 号：R742.2[医药卫生—神经病学与精神病学] R596[医药卫生—临床医学]