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目的 了解线粒体 t RNAL eu( UUR) nt32 43A→ G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 2型糖尿病的临床特征。方法 采用 PCR- RFL P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该突变的筛查。结果 在 2型糖尿病组中发现 3例该基因突变携带者 ,代表了被筛选人群的 0 .4%。此外 ,本研究还对近年来报道的与日本人 2型糖尿病相关的 ND1基因 nt3316 G→ A突变进行了筛查 ,在 2型糖尿病组中发现 16例(2 .2 % )突变携带者 ,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 (发病年龄 ,体重指数 ,胰岛素分泌功能 )比较亦无显著性差异。结论 mt3316位点 G→A突变可能仅为人群中的基因多态性
Objective To investigate the exact incidence of mitochondrial t RNAL eu (UUR) nt3243A → G mutation in Chinese type 2 diabetic patients and the clinical features of type 2 diabetes caused by this gene mutation. Methods A total of 716 randomly selected unrelated patients with type 2 diabetes were screened for this mutation using PCR-RFLP. Results In the type 2 diabetes group, 3 cases of this gene mutation carrier were found, representing 0.4% of the people screened. In addition, we also screen nt3316 G → A mutation of ND1 gene, which was reported in recent years in Japanese type 2 diabetes, and 16 (2.2%) mutation carriers were found in type 2 diabetes mellitus Among 181 normal controls, 5 cases of mutation carriers (2.7%) were found, and the incidence of mutation was not significantly different between the two groups. There was no significant difference in clinical features (age of onset, body mass index, insulin secretion) between type 2 diabetic patients with G → A mutation at mt3316 locus and type 2 diabetic patients without this mutation. Conclusion The G → A mutation at mt3316 site may only be the genetic polymorphism in the population