亨廷顿舞蹈病患者 mtDNA D环突变及编码区大片段缺失分析

摘要

Aim:To study the relationship between mtDNA D loop mutation ,large-scale deletions in mtDNA coding re-gion and Huntington ’ s disease ( HD) .Methods:PCR-agarose gel electrophoresis was used to detect mtDNA D loop muta-tion and large-scale deletion in mtDNA coding region of 8 HD patients,20 normal individuals from HD pedigrees , and 20 unrelated normal individuals .Results:None of the HD patients was found insert/deletion mutation in mtDNA D loop .And HVRⅠrs16061-rs16171 was the mutation cluster region .Large-scale deletion in mtDNA coding region was detected in 3 HD patients and 16 normal individuals from HD pedigrees .Conclusion: The insert/deletion mutation in mtDNA D loop and large-scale deletion of mtDNA coding region may not be the main reasons of HD .%目的：探讨人类mtDNA D环突变及编码区大片段缺失与亨廷顿舞蹈病的关系。方法：采用PCR-DNA测序技术对2个亨廷顿舞蹈病家系的8名患者、20名家系内正常人及20名无关健康个体的mtDNA D环高变区突变及编码区大片段缺失进行检测。结果：患者D环高变区未发现片段缺失/插入突变，高变区Ⅰ的rs16061～rs16171是核苷酸歧变的集中区域。3名患者和16名家系内正常人存在mtDNA编码区大片段缺失。结论：mtDNA D环调控序列的大片段缺失/插入突变及编码区大片段缺失可能不是亨廷顿舞蹈病发病机制中的主要因素。