2个亨廷顿舞蹈病家系动态突变及mtDNA D环高变区的检测

Dynamic mutation of huntingtin gene and detection of mtDNA D-loop hypervariable region in two huntington disease pedigrees

目的探讨mtDNA D环高变区突变与亨廷顿舞蹈病(HD)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。结果两家系正常人(CAG)n≤18次,患者n≥40次,mtDNA D环未见大片段缺失和插入。结论检测亨廷顿(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。

Objective To study the relationship between mitochondrial DNA（mtDNA） D-loop mutation and Huntington disease（HD）.Methods（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.Conclusion Big fragment＇s recombination in mtDNA control region maybe isn＇t the important factor in HD pathogenic mechanism.