Huntington舞蹈病━家系的IT15基因诊断  

IT15 gene diagnosis in a pedigree of Huntingdon disease

作　　者：徐伟[1] 刘慧[1] 黄韧[1] 李灼日[1] 

机构地区：[1]湖南省人民医院临床医学研究所,湖南长沙410005

出　　处：《中国现代医学杂志》2008年第19期2832-2834,共3页China Journal of Modern Medicine

摘　　要：目的从分子水平探讨Huntington舞蹈病(HD)的发病机制,明确亨廷顿病家系基因突变情况,从而为该家系的基因诊断和遗传咨询提供科学依据。方法应用巢式PCR、琼脂糖凝胶电泳等方法,在分子水平上检测IT15基因中(CAG)n的扩增片断长度,对一家族性HD家系中的患者、HD症前高风险成员及正常家庭成员进行基因诊断。结果正常成员显示1条扩增区带,约100bp;HD患者除有1条正常扩增片断(约100bp)外,还有一异常的长约200bp的扩增片断;HD症前高风险成员中检出2个HD基因携带者,扩增片断与患者完全相同。结论应用该方法可以对HD进行准确的基因诊断,为临床HD高风险者的检出及随后的产前诊断提供了一种简便、易行的检测方法,同时也证明IT15基因的动态突变是导致该家系中亨廷顿病发生的遗传基础。[Objective] To investigate the possible molecular mechanism of Huntington disease, so as to provide guidelines for genetic diagnosis and advisory for this disease. [Methods] By using nest PCR amplification and agarose gel electrophoresis technique,we tested CAG repeats of the IT15 gene for patients, members at high risk and 2 healthy spouses in a HD family. [Results] Two patients and two members at high risk were found to amplify two specific sections, while healthy spouses and 5 other members at high risk were found to amplify only one specific section in the HD family. [Conclusions] The method used in this study can diagnose HD accurately, which supply a simple and easy way for the gene diagnosis for HD members at high risk and prenatal diagnosis. In addition, these findings suggest that dynamatic mutation in IT15 gene responsible for the genetic defect in Chinese HD patients.

关 键 词：HUNTINGTON舞蹈病 三核苷酸重复 IT15基因 基因诊断 

分 类 号：R742.2[医药卫生—神经病学与精神病学]