线粒体基因组np16181～16193区基因变异与2型糖尿病的关联研究

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1 h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.

Association study on the mitochondrial genome region np16181-16193 variation with type 2 diabetes mellitus

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 mitoehondrial DNA region np16181-16193 variations by PCR and sequencing, and to analyze the association of the variations with the major clinical symptoms. Results The mitoehondrial 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.