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目的 研究2型糖尿病患者中线粒体t RNAL eu( UUR)基因32 4 3A/ G突变和NADH脱氢酶亚单位1基因(ND1)基因3316 G/ A突变的发生频率及其与2型糖尿病的相关性。方法 应用聚合酶链反应及限制性片段长度多态性技术检测2 2 5例中国云南2型糖尿病患者和195名无糖尿病家族史的健康对照者有无32 4 3A/ G突变和3316 G/ A突变,并经DNA直接测序确证。结果 2型糖尿病患者中3316 G/ A突变者5例(2 .2 2 % ) ,195例对照者中突变者2例(1.0 3% ) ,突变发生率在两组间差异无统计学意义(P=0 .4 5 76 ) ;两组中无线粒体32 4 3A/ G突变。结论 线粒体t RNALeu( UUR) 基因32 4 3A/ G突变在中国云南2型糖尿病人群中发生频率低,可能不是云南人群中2型糖尿病的常见病因。线粒体ND1基因3316 G/ 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 frequency of the 32 4 3A / G mutation of mitochondrial t RNAL eu (UUR) gene and the 3316 G / A mutation of NADH dehydrogenase subunit 1 (ND1) gene in type 2 diabetic patients and its relationship with type 2 diabetes mellitus Sex. Methods Polymerase chain reaction and restriction fragment length polymorphism were used to detect the presence or absence of 32 4 3A / G mutation and 3316 G / A in 195 healthy people with type 2 diabetes and 195 non-diabetic family history in Yunnan, China. Mutation, and confirmed by DNA direct sequencing. Results In type 2 diabetic patients, there were 5 cases (2.22%) of 3316 G / A mutation and 2 cases (1.03%) mutation in 195 cases. There was no significant difference in the incidence of mutation among the two groups P = 0 .4 5 76). There was no mitochondrial 32 4 3A / G mutation in both groups. Conclusion The 32 4 3A / G mutation of mitochondrial t RNALeu (UUR) gene is less frequent in type 2 diabetes in Yunnan, China and may not be the common cause of type 2 diabetes in Yunnan population. The 3316 G / A mutation of the mitochondrial ND1 gene may be only the normal polymorphism of the mitochondrial genome in the population. Other genetic, environmental and intrauterine factors need further study.