【摘要】 目的　探讨线粒体基因 (mtDNA) 12SrRNA 13 82、14 4 2位点及ND13 3 94、3 4 2 3位点突变与中国上海地区非肥胖 2型糖尿病的关系。方法　采用PCR SSCP及PCR产物直接测序等技术检测mtDNA 12SrRNA、ND1片段的突变情况。结果　 2 86例非肥胖 2型糖尿病患者在 12SrRNA 13 82位点有 6例存在A→C的点突变 ,14 4 2位点 8例存在G→A的点突变 ;2 42例非糖尿病对照组中 ,2例存在 13 82位点A→C ,1例存在 14 4 2位点G→A的点突变。 2 86例非肥胖 2型糖尿病和 2 42例非糖尿病对照组中 ,未发现ND13 3 94位点突变 ,而 3 4 2 3位点的突变率为 10 0 %。结论　 12SrRNA13 82、14 4 2位点突变可能增加糖尿病的易感性。mtDNAND13 4 2 3位点突变率为 10 0 % ,可能与人种有关 ;3 3 94位点不存在突变说明糖尿病的发生在线粒体遗传上存在一定的异质性更多还原

【Abstract】 ObjectiveTo assess whether the mutations at points 1382,1442 of mitochondrial 12S?rRNA a nd points 3394,3423 of ND1 gene are associated with type 2diabetes in Chinese no nobese diabetes.MethodsThe mitochondrial DNAs were analyzed by combination o f PCR-SSCP and PCR product direct sequencing technique.ResultsIn nonobese diabetes group(286 individuals),6 patient s were found with the mitochondrial DNA A→C mutations at point 1382,8 patients with A→C mutations at point 1442;in normal group (242 cases),2 patients were fo und with the mitochondrial DNA A→C mutations at point 1382,1 patient with A→C mutations at point 1442.In nonobese diabetes group and normal group,no mutation was found at point ND1 3394,while the mutation rate was 100% at point 3423.ConclusionMutations at 12S?rRNA points 1382 and 1442 are li kely to increase the susceptibility to diabetes.The mutation rate at mtDNA ND1 p oint 3423 is 100%,which is probably associated with the ethnic;no mutation at po int 3394 suggests that there is certain heterogeneity in mitochondrial heritage in the development of type 2 diabetes.更多还原