摘要
目的:检测两个亨廷顿舞蹈病(HD)家系的IT15基因CAG重复序列[(CAG)n]。方法:采用PCR和测序分析方法检测两个家系28名成员(A家系为已确诊HD家系,B家系为疑似HD家系)和两名正常对照IT15基因的(CAG)n。结果:两名正常对照IT15基因的CAG拷贝数分别为17、18;A家系中患者CAG拷贝数大于50;B家系中患者CAG拷贝数为40～50。B家系通过基因检测确诊为HD家系,并检出一名症状前患者。结论:IT15基因(CAG)n检测是诊断HD简便、快捷和有效的方法。
Aim：To detect the （CAG）n of IT15 gene in 2 pedigrees of Huntington’s disease（HD）.Methods：PCR and sequencing technology were used to detect the copy number of CAG of IT15 gene in the 2 pedigrees（n=28） and 2 normal controls.Results：The number of CAG in IT15 gene from 2 normal controls was 17 and 18,that from pedigree A patients was above 50,and that from pedigree B patients was among 40～50.Pedigree B was diagnosed as HD pedigree,and an asymptomatic patient was found.Conclusion： Detecting the number of CAG of IT15 gene is a convenient, rapid,and available method to diagnose HD.
出处
《郑州大学学报（医学版）》
CAS
北大核心
2010年第6期936-939,共4页
Journal of Zhengzhou University(Medical Sciences)
基金
河南省教育厅自然科学研究计划基金资助项目2010A310010
郑州大学大学生创新基金资助项目
