浙江汉族人群线粒体DNA ND1基因G3316A突变与2型糖尿病

目的：研究与日本人2型糖尿病（type 2 diabetes mellitus,T2DM）相关的线粒体DNA（mitochondria DNA,mtDNA）ND1基因G3316A突变在浙江汉族T2DM人群中的发生率及其临床意义。方法：采用PCR产物直接测序法对浙江籍汉族人群中无血缘关系的315名T2DM患者及158名正常对照的外周血mtDNA进行检测,并用DNASTAR和Antheprot 5.0软件分析突变位点。结果：在T2DM患者中检测到6例（占1.90%）G3316A突变,对照组中发现3例（占1.90%）突变,突变发生率在两组间差异无显著性（P＆gt;0.05）。携带G3316A位点突变的T2DM组与无该突变的T2DM组之间的临床特点（发病年龄、体重指数和血糖水平等）比较差异亦无显著性。蛋白二级结构中α-螺旋、β-折叠、β-转角和不规则卷曲的构成比没有发生改变。结论：线粒体DNA ND1基因G3316A突变可能与浙江汉族人群T2DM的发生无关,仅为人群中的基因多态性。

Study on mitochondrial DNA ND1 gene G3316A mutation of and type 2 diabetes mellitus in the Han nationality in Zhejiang

Objective： To study the frequency and the clinical significance of mutation mitochondria DNA （mtDNA） NADH dehydrogenase subunit 1 （ND1） gene point G3316A associated with Japanese type 2 diabetes mellitus （T2DM） in Chinese Han Nationaliyt population in Zhejiang province. Methods：Direct sequencing of PCR products was applied to study G3316A mutation in blood corpuscle mtDNA in 315 T2DM patients without relation of consenouinity and 158 normal controls from Zhejiang province. The mutation was analyzed with DNASTAR and Antheprot 5.0 softwares. Results： G3316A mutation was found in 6 （1.90%） of 315 cases with T2DM and 3 （1.90%） of 158 healthy controls, Therefore,the frequency of the mutation had no different between patients and controls （P 〉0.05）. Moreover, clinical characteristics,such as age of onset of diabetes, BMI, and blood sugar levels were not different between T2DM patients with the G3316A mutation and those without it. The proportion of α-Helix,β-Sheet,β-Turn and Coil in the N.D1 protein secondary structure did not change. Conclusion： G3316A mutation was a gene polymorphism of mtDNA and unrelated to the pathogenesis of T2DM in Zhejiang Han population.