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目的 为了解线粒体tRNALeu(UUR) nt32 4 3A G突变和ND 1基因nt3316GA突变在中国人 2型糖尿病人群中的精确发病率及该基因突变所导致的II型糖尿病的临床特征。方法 我们采用PCR RFLP技术对 716例随机抽取的无亲缘关系的 2型糖尿病患者进行了突变的筛查。结果 在 2型糖尿病组中发现 3例 (0 4 % )该基因突变携带者 ,并在先证者一级亲属中又发现 4例携带该突变的2型糖尿病患者。比较mt32 4 3A G突变阳性的 2型糖尿病患者与mt32 4 3A G突变阴性的 2型糖尿病患者的临床特点后发现mt32 4 3A G突变阳性的 2型糖尿病患者具有以下特征 :1) 发病早 (38 0± 10 1vs 5 3 4± 10 0岁 ,P <0 0 0 1) ;2 ) 体重减轻 (BMI,19 5± 2 0vs 2 4 9± 10 9kg/m2 ,P <0 0 0 0 1) ;3) 胰岛素分泌能力下降 (OGTT试验胰岛素曲线下面积 ,2 94 6± 16 47 2vs74 6 9± 6 6 47 7,P <0 0 1)。在 2型糖尿病组中发现ND1基因nt3316G A突变16例 (2 2 % ) ,在 181例正常对照组中发现 5例突变携带者 (2 7% ) ,突变的发生率在两组间无显著性差异。携带mt3316位点G A突变的 2型糖尿病组与无该突变的 2型糖尿病组之间的临床特点亦无显著差异。结论 线粒体tRNALeu(UUR) nt32 4 3A G突变在中国人 2型糖尿病人群中的发病率为 0 4
Objective To understand the precise incidence of mitochondrial tRNALeu (UUR) nt32 4 3A G mutation and ND 1 nt3316GA mutation in Chinese population with type 2 diabetes mellitus and the clinical characteristics of type 2 diabetes caused by this gene mutation. Methods We used PCR RFLP to screen for 716 randomly selected unrelated patients with type 2 diabetes. Results In the type 2 diabetes group, 3 cases (0 4%) of the mutation carriers were found, and in the first degree relatives of the probands, 4 cases of type 2 diabetes patients were found. Comparison of the clinical features of type 2 diabetic patients with mt32 4 3A G mutation positive and type 2 diabetic patients with mt32 4 3A G mutation revealed that patients with type 2 diabetes who are positive for the mt32 4 3A G mutation have the following characteristics: 0 ± 10 1 vs 5 34 ± 10 0 years old, P <0.01); 2) body weight loss (BMI, 19 5 ± 20 vs 249 ± 109 kg / m2, P <0 0 01); 3) Decreased insulin secretion (area under the curve of insulin in OGTT test, 2 94 6 ± 16 47 2 vs 74 6 9 ± 6 6 47 7, P <0.01). In type 2 diabetes group, nt3316G A mutation of ND1 gene was found in 16 cases (22%), and in 181 cases of normal control group, 5 cases were found to be mutation carriers (27%). The incidence of mutation was not significantly different between the two groups difference. There was no significant difference in the clinical features between type 2 diabetic patients carrying the G A mutation at mt3316 site and type 2 diabetic patients without this mutation. Conclusions The incidence of mitochondrial tRNALeu (UUR) nt32 4 3A G mutation in Chinese population with type 2 diabetes mellitus is 0 4