一种新发现的线粒体DNA大片段缺失与衰老的关系初探

目的 在人外周血细胞中筛选新的线粒体DNA（mtDNA）大片段缺失突变，探讨mtDNA尤其在片段缺失突变与衰老的关系。方法 以人外周血细胞DNA为模板，进行聚合酶链反应（PCR）扩增，产物克隆、测序。用PCR半定量方法测定1条长达13．1kb的mtDNA缺失突变，＜60岁组和≥60岁组突变型与野生型的比例，差异有显著性。结论 该突变以前未见报道，可能是一种与衰老有关的缺失突变。

Preliminary study of a new deletion of mitochondria DNA fragment in human peripheral blood cells and its relation to the aging

Objective　To screen a new deletion in mitochondria(mtDNA) fragment in human peripheral blood cells, and study the relationship between the mtDNA deletion and the aging. 　Methods　 DNA extracted from human peripheral blood cells was used as PCR templates. The PCR products were cloned and sequenced. Semi-quantitative PCR was also used in detecting the ratio of deleted mtDNA to wild type mtDNA. 　Results　 There was a 13.1 kb mtDNA deleted in human peripheral blood cells, and the deletion ratio between ＜60 age group and ≥60 age group was significantly different. 　Conclusions　 To our knowledge,this deletion has not been reported before and was the longest deleted fragment in human mitochondrial genome and it might be an aging-related deletion mutation.