中文摘要：

目的探讨线粒体基因组np16181～16193区基因变异与2型糖尿病（type 2 diabetes mellitus，T2DM）之间的关联。方法随机收集199例浙江地区2型糖尿病患者和205名正常对照，采用聚合酶链反应、基因直接测序检测该区域基因，同时分析变异与2型糖尿病及主要临床指标间的关联。结果发现np16181～16193区域为高度变异区，存在多种变异形式，考虑为基因多态性位点；在该区域发现有4种变异碱基排列形式仅存在于T2DM中；在np16181～16193区域中变异组餐后1h血糖明显高于未变异组（P〈0．05），而其余各生化指标差异无统计学意义（P〉0．05）。结论线粒体基因组np16181～16193区域引起的变异尚不能视为2型糖尿病的易感因素。

英文摘要：

Objective To investigate the association of the mitochondrial DNA region np16181-16193 variations with type 2 diabetes mellitus（T2DM）. Methods Blood samples of 199 unrelated T2DM patients and 205 normal controls were collected to detect the mitochondrial DNA region np16181-16193 variations by PCR and sequencing, and to analyze the association of the variations with the major clinical symptoms. Results The mitochondrial DNA np16181-16193 region is a hypervariable area, with several polymorphisms. Four types of np16181-16193 region variations were found only in T2DM. The 1-hour postprandial blood glucose （P1BG） in the T2DM individuals with np16181-16193 region variations was significantly higher than those without variations （P〈0.05）, while there was no significant difference in other biochemical parameters （P〉0.05）. Conclusion The mitochondrial DNA np16181-16193 variations could not be regarded as a risk factor for T2DM.