【摘要】 通过病例(对照研究探讨线粒体tRNA^Thr基因变异与2型糖尿病（type 2diabetes mellitus,T2DM）的关系。实验收集了752例T2DM患者和752例体检健康对照者,采用试剂盒法提取所有受试者外周血基因组DNA,通过聚合酶链式反应（PCR）扩增线粒体tRNA^Thr基因片段并进行DNA测序,运用软件比对分析测序结果,并对变异位点进行评估。通过序列比对分析得到10个线粒体tRNA^Thr基因位点变异,再对这10个变异位点进行tRNA二级结构分析和系统进化分析评估,结果发现线粒体tRNA^Thr G15927A变异破坏了tRNA^Thr反密码子茎上高度保守的碱基对序列（28C⁴2G）的稳定性,并可能通过改变tRNA^Thr二级结构引起线粒体功能障碍。最后,通过χ2检验发现该变异在T2DM患者组和对照组之间具有统计学差异。线粒体tRNA^Thr G15927A变异可能是T2DM的1个潜在风险因子。更多还原

【Abstract】 The relationshipbetween mitochondrial tRNA^Thr gene variants and type 2 diabetes mellitus（T2DM）was investigated through case-control study.752 unrelated T2DM patients and 752 healthy controls were involved in the study.The mitochondrial DNA（mtDNA）was extracted from peripheral blood separately and was analyzed by the polymerase chain reaction（PCR）and sequencing.The sequencing results were analyzed by software comparison and the mutation sites were evaluated.Mutational analysis identified 10 nucleotide changes in mitochondrial tRNA^Thr gene.Of these variant,the G15927A mutation unsteadied a highly conserved base pairing（28 C⁴2 G）in the anticodon stem of tRNA^Thr,through further eveluated.It suggested that G15927A variant altered structures of tRNA^Thr might cause mitochondrial dysfunction.Moreover,statistical analysis revealed an association between mtDNA G15927A variant and the incidence of T2DM.Our observations showed that mitochondrial tRNA^Thr G15927A variant may be a potential risk factor for T2DM.更多还原