摘要
目的：研究中国云南2型糖尿病人群中线粒体tRNA~(Leu(UUR))基因nt3243A／G突变和ND-1基因nt3316G／A突变的发生频率及其与2型糖尿病的相关性。寻求准确、快速、简易的临床糖尿病基因诊断技术。对象及方法：随机选择225例中国云南2型糖尿病患者和195例无糖尿病家族史的健康对照者作为研究对象。通过聚合酶链反应及限制性片断长度多态性分析(PCR-RFLP)检测tRNA~(Leu(UUR))基因3243A／G突变和ND-1基因3316G／A突变，并经DNA直接测序确证。结果：225例2型糖尿病患者及195例对照者中无一人携带线粒体3243A／G突变；225例2型糖尿病患者中检出线粒体3316G／A突变5例(2.22％)，195例对照者中检出该突变2例(1.03％)，突变的发生率在两组间无显著性差异(P=0.4576)；上述结果经PCR-直接测序得到证实。结论：线粒体tRNA~(Leu(UUR))基因3243A／G突变在中国云南2型糖尿病人群中发生频率低，可能不是中国(特别是云南)人群中2型糖尿病的常见病因。线粒体ND-1基因3316G／A突变可能仅为人群中线粒体基因组的正常多态。其他的遗传、环境及子宫内因素需要进一步研究。
Objective: To investigate the prevalence of the must prevalent mitochondrial DNA mutation at position 3243(A / G) and the prevalence of the mitochondrial DNA mutation at position 3316(G / A) in Chinese patients with type 2 diabetes mellitus and to establish the approaches for genetic diagnosis of this subtype of diabetes during routine daily clinical practice. Subjects and Methods: We randomly examined 225 unrelated Chinese patients with type 2 diabetes and 195 nondiabetic control individuals without family history of diabetes. The presence of mt 3243 and 3316 mutations was determined by polymerase chain reaction amplification and restriction fragment length polymorphism (PCR/RFLP). Finally, mutant mtDNA was confirmed by DNA sequencing. Results: The mitochondrial DNA mutation at position 3243 was not found in any of the patients and controls. The mitochondrial DNA mutation at position 3316 was found in 5 of 225 ( 2.22 %) patients with type 2 diabetes, and this mutation was found in 2 of 195 ( 1.03 %) control
individuals. Therefore the frequency of the mutation was not different between patients and controls. Above results were identified by DNA sequencing. Conclusions: Our results suggest that the prevalence of the mitochondrial tRNALeu(UUR) gene at position 3243 (A / G) mutation was exactly very low
and it may not a major cause of type 2 diabetic patients in China. The mitochondrial ND-1 gene at position 3316(G/A) mutation may be a polymorphism unrelated to diabetes in China. The role of other genetic, environmental and intrauterine factors needs further investigation.
引文
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