摘要目的两个线粒体突变3243A→G和3316G→A已经被报道发现在糖尿病患者中,本研究旨在调查这个可能的糖尿病相关区域3116→3353在中国人二型糖尿病中的角色. 方法应用聚合酶链反应,直接的DNA测序,限制性长度片段多态性和等位特异聚合酶链反应等方法筛查277个二型糖尿病患者和241个正常对照的线粒体目的基因区域.对检出的序列改变进行Fisher精确统计分析,并应用RNA折叠软件mfold预测16S rRNA基因区域的变异所引起的最小自由能二级结构改变以确定其功能意义.结果检出4个同质体碱基取代:3200T→C, 3206C→T, 3290T→C and 3316G→A .其中3200T→C 只出现在患者中,另外三个在患者和正常人中均有检出,统计分析显示其频率的不同无显著意义.3200T→C和3206C→T位于16S rRNA,为该研究首次检出,前者引起了最小自由能二级结构模型的极大改变,而后者几乎没有引起结构变化.结论本结果建议3200T→C与二型糖尿病的发展相关,而其他几种变异的影响是中性的.不同于日本人的研究,3316C→T与二型糖尿病无关.

abstractsObjective To investigate the role of a potential diabetes-related mitochondrial region, w hich includes two previously reported mutations, 3243AG and 3316GA, in Chine se patients with adult-onset type 2 diabetes.Methods A total of 277 patients and 241 normal subjects were recruited for the study. M itochondrial nt 3116-3353, which spans the 16S rRNA, tRNAleu(UUR) and the NADH dehydrogenase 1 gene, were detected using polymerase chain reaction (PCR), direct DNA sequencing, PCR-restriction fragment length p olymorphism and allele-specific PCR. Variants were analyzed by two-tailed Fis her exact test. The function of the variants in 16S rRNA were predicted for mi nimal free energy secondary structures by RNA folding software mfold version 3.