摘要
目的:研究线粒体DNA(mtDNA)编码区大片段缺失与亨廷顿舞蹈病(HD)之间的关系。方法:采用PCR对3个HD家系中的10名患者和26名正常人的mtDNA编码区大片段缺失进行检测。结果:共6名患者和16名正常人存在mtDNA编码区大片段缺失,其中1名患者存在多重缺失,6名正常人存在多重缺失。结论:未发现mtDNA编码区大片段缺失与HD有特异相关性。
Aim： To investigate the relationship between large-scale deletions of the mtDNA coding region and Huntington’s disease（HD）.Methods：PCR was used to detect large-scale deletions of the mtDNA coding region among 10 HD patients and 26 normal individuals from three HD pedigrees.Results：Six patients and 16 normal individuals from three HD pedigrees had large-scale deletions of the mtDNA coding region,in which 1 patient and 6 normal individuals had multiple deletions.Conclusion：There is no obvious relation between HD and the large-scale deletions of the mtDNA coding region.
出处
《郑州大学学报（医学版）》
CAS
北大核心
2012年第5期719-722,共4页
Journal of Zhengzhou University(Medical Sciences)
