基础医学与临床 ›› 2011, Vol. 31 ›› Issue (1): 37-40.

• 研究论文 • 上一篇    下一篇

2个亨廷顿舞蹈病家系动态突变及mtDNA D环高变区的检测

李新伟1,刘建新2,黄月丽1,陈晓蕾2,陈辉2,李晓文2   

  1. 1. 河南省漯河医学高等专科学校2. 郑州大学基础医学院
  • 收稿日期:2010-02-24 修回日期:2010-04-18 出版日期:2011-01-05 发布日期:2011-01-05
  • 通讯作者: 李晓文

Dynamic Mutation of IT15 gene and Detection of mtDNA D-loop Hypervariable Region in Two HD pedigrees

LI Xin-wei 1,LIU Jian-xin 2,HUANG Yue-li 2,CHEN Xiao-lei 2,CHEN Hui 2,LI Xiao-wen 3   

  1. 1. Luohe Medical College2. 3. College of Basic Medical Sciences ,Zhengzhou University
  • Received:2010-02-24 Revised:2010-04-18 Online:2011-01-05 Published:2011-01-05
  • Contact: LI Xiao-wen

摘要: 目的 探讨mtDNA D环高变区突变与亨廷顿舞蹈病的关系。方法 PCR-DNA测序法检测2个HD家系(CAG)n重复序列、mtDNA D环高变区大片段缺失或插入突变。结果 2家系正常人(CAG)n≤18次,患者n≥40次,mtDNA D环未见大片段缺失和插入。结论 检测IT15基因(CAG)n可准确、快速诊断HD;mtDNA调控区大片段重组可能不是HD发病机制中的重要因素。

关键词: 亨廷顿舞蹈病, 三核苷酸, mtDNA, D环

Abstract: Objects To study the relationship between the mitochondrial DNA (mtDNA) D-loop mutation and Huntington Disease. Methords (CAG)n repeat size and mtDNA D-loop fragment deletion or insertion were detected by PCR-DNA sequencing in two HD pedigree. Results normal individuals (CAG)n≤18 times, patient’s abnormal n≥40 times. There were no fragment deletion and insertion in the mitochondrial control region. Conclusions: Big fragment’s recombination in mtDNA control region maybe isn’t the important factor in HD pathogenic mechanism.

中图分类号: