Objective To investigate the association of two SNPs, 14783T/C and 15235A/G in Cyt b coding region of mitochondrial DNA(mtDNA),with type 2 diabetes(T2DM) and with T2DM complicated with hypertension or obesity. Methods The genetic polymorphism of two coding region SNPs, 14783T/C and 15235A/ G, of Cyt b gene were detected by PCR and restriction-fragment length polymorphism(RFLP) in 153 unrelated T2DM patients and 198 matched healthy blood donors. Results The frequency distributions of mtDNA 14783T/ C in case and control are 60.1% and 59.1%(χ 2 =0.039,P=0.844), in the subgroup with obesity are 61.3% and 59.0%(χ 2 =0.089,P=0.766) and in the subgroup with hypertension are 62.5% and 58.8%(χ 2 =0.207,P= 0.649). The frequency distributions of mtDNA 15235A/G in case and control are 2.6% and 4.0%(χ 2 =0.532,P=0.466), in the subgroup with hypertension are 3.6% and 2.1%(χ 2 =0.318,P=0.573) and in the subgroup with obesity are 2.6% and 2.6%(χ 2 =0.002,P=0.968). Conclusion There may be no association in polymorphisms of the mtDNA 14783 T/C and 15235 A/G with China Dalian region T2DM patients and with those complicated with hypertension or obesity.

我院于2003年12月-2008年12月收治老年2型糖尿病人发生低血糖69例,现报告如下. 一、临床资料 1.对象 所有病例均为糖尿病专科门诊及住院病人,符合WHO(1999)糖尿病 断标准,均为2型糖尿病人.

目的:探讨线粒体DNA 3537A/G、5351A/G位点突变与中国北方人群2型糖尿病发生之间的关系.方法:全部对象均来自大连市,2型糖尿病患者包括大连地区2型糖尿病家系调查收集的患者61例,大连市中心医院内分泌科收治的患者497例及国家"95"攻关"中老年糖尿病普查"大连地区散发患者56例.另选国家"95"攻关"中老年糖尿病普查"中糖耐量正常的344人作为正常对照.在614例2型糖尿病患者和334名非糖尿病对照群体中检测线粒体DNA 3537A/G、5351A/G位点的突变情况.在测序基础上,从线粒体DNA中排序选择2个有较高可能性与2型糖尿病相关的候选SNP,然后使用限制性片断长度多态性聚合酶链反应技术进行基因分型.结果:线粒体DNA 3537A/G、5351A/G在2型糖尿病患者中的突变频率分别为2.0%和2.6%,在对照人群中则分别为2.1%和4.2%,两者之间的差异无显著性意义(P＞0.05).按照体质量指数和血压进行分层之后,发现5351A/G在肥胖的2型糖尿病患者中突变频率为1.61%,在肥胖的对照中频率为15.38%,两者之间的差异具有显著性意义(P_(Fisher)=0.02,OR=2.76);但是A 3537G在各组中的差异无显著性意义(P＞0.05).结论:线粒体DNA ND2基因5351A/G可能与中国北方人群中2型糖尿病发病风险相关.

Mitochondria is the production site of energy in cells.Mitochondrial DNA(mtDNA) encodes 37 genes including 13 protein genes participating in the respiratory chain of mitochondria,2 for rRNA,and 22 for tRNA.It has been known that one of important causes of some inherent diseases and multifactor diseases might be related to the mutations of mitochondrial DNA.This review introduces not only mitochondrial genomics,mtDNA disease models,the clinical features of mtDNA diseases,but also the research progress in therapy and prevention of mtDNA diseases.

线粒体是使细胞能量生成的场所,线粒体基因组(mitochondrial DNA,mtDNA)编码参与线粒体呼吸链的13个蛋白亚基,2个rRNA和22个tRNA.mtDNA突变是引起多因素疾病和部分遗传疾病的重要原因之一,本文介绍线粒体基因组学、mtDNA疾病模型,mtDNA突变导致心血管疾病等的临床特征及其治疗和预防的研究进展.