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目的探讨线粒体NADH脱氢酶1(ND1)基因nt3434A→G突变与糖尿病的关系。方法运用PCR-RFLP技术在糖尿病组(216例)和正常对照组(203例)中筛查线粒体ND1基因nt3434A→G突变,并分析其家系的突变特点和临床特征。结果在糖尿病组中发现1例nt3434A→G突变者,而正常对照组中未发现,两组间突变频率差异无统计学意义。携带nt3434A→G突变的糖尿病患者胰岛素水平稍低,体质量指数低,伴高乳酸血症,家系中其妹和女儿携带nt3434位点突变且伴高乳酸血症,但糖耐量正常。结论线粒体ND1基因nt3434A→G突变与糖尿病的发病风险增高是否相关值得进一步研究.
Objective To investigate the relationship between mitochondrial NADH dehydrogenase 1 (ND1) gene nt3434A → G mutation and diabetes mellitus. Methods The mitochondrial ND1 gene nt3434A → G mutation was screened by PCR-RFLP in diabetic group (216 cases) and normal control group (203 cases). The mutation characteristics and clinical features of the ND3 gene were analyzed. Results One case of nt3434A → G mutation was found in the diabetic group, while no mutation was found in the normal control group. There was no significant difference in the mutation frequency between the two groups. Diabetic patients with nt3434A → G mutations had slightly lower insulin levels and lower body mass index with hyperlactia. Their sister and daughter had nt3434 site mutations and hyperlactic acidosis with normal glucose tolerance. Conclusion Whether the relationship between nt3434A → G mutation of mitochondrial ND1 gene and the risk of diabetes mellitus is worth further research.