郑州大学学报（医学版）2012，Vol.47Issue(5)：719-722,4.DOI:10.3969/j.issn.1671-6825.2012.05.039
亨廷顿舞蹈病3家系线粒体DNA编码区大片段缺失的检测
Detection of large-scale deletions of mtDNA coding region in three Huntington's disease pedigrees
姜榴茗 1陈蒙蒙 1肖海 2李晓文2
作者信息
- 1. 郑州大学临床医学系,郑州,450052
- 2. 郑州大学基础医学院细胞生物学与医学遗传学教研室,郑州,450001
- 折叠
摘要
Abstract
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.关键词
亨廷顿舞蹈病/线粒体DNA/编码区/大片段缺失Key words
Huntington' s disease/mtDNA/ coding region/ large-scale deletion分类
医药卫生引用本文复制引用
姜榴茗,陈蒙蒙,肖海,李晓文..亨廷顿舞蹈病3家系线粒体DNA编码区大片段缺失的检测[J].郑州大学学报（医学版）,2012,47(5):719-722,4.
