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目的:研究北京地区汉族人群中线粒体DNA(m itochondrial DNA,m tDNA)多位点突变频率与2型糖尿病之间的相关性。方法:采用直接PCR、PCR-限制性片段长度多态性(restriction fragm ent length polymorph ism,RFLP)、PCR-时相温度梯度凝胶电泳(temporal temperature grad ient gel electrophoresis,TTGE)法筛查m tDNA 4977片段缺失、线粒体tRNALeu(UUR)A3243G突变和m tDNA T14577C突变。结果:在250例2型糖尿病患者及142例健康对照外周血基因组总DNA中,未发现m tDNA 4977缺失、线粒体tRNALeu(UUR)A3243G突变及m tDNA T14577C突变。结论:m tDNA 4977缺失、线粒体tRNALeu(UUR)A3243G突变及m tDNA T14577C突变在外周血中没有检出,采用常规PCR法检测2型糖尿病患者外周血线粒体DNA突变具有较大的局限性。
AIM: To investigate the association between the frequency of mtDNA polymorphisms and type 2 diabetes mellitus in Chinese Han population in Beijing. Methods: m tDNA was screened by direct PCR, restriction fragment length polymorphism (RFLP) and temporal temperature gradient electrophoresis (TTGE) 4977 deletion, mitochondrial tRNALeu (UUR) A3243G mutation and m tDNA T14577C mutation. Results: The m tDNA 4977 deletion, mitochondrial tRNALeu (UUR) A3243G mutation and m tDNA T14577C mutation were not found in the total DNA of peripheral blood of 250 type 2 diabetic patients and 142 healthy controls. Conclusion: mtDNA 4977 deletion, mitochondrial tRNALeu (UUR) A3243G mutation and m tDNA T14577C mutation are not detected in peripheral blood. There is a great limitation to detect mitochondrial DNA mutations in peripheral blood of patients with type 2 diabetes by conventional PCR.