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目的:通过对线粒体基因NDUFB6[NADH dehydrogenase(ubiquinone)1 beta subcomplex]进行单核苷酸多态性(single nucleotide polymorphism,SNP)的检测,对高频率SNP进行基因分型,研究NDUFB6基因与2型糖尿病的相关性.方法:使用PCR+测序方法,以15个2型糖尿病患者和9个正常人为样本,对NDUFB6基因的启动子、外显子以及临近的内含子进行测序以确定该基因的SNP;对高频率的SNP,仍使用PCR+测序方法分别在192个2型糖尿病患者与正常人中进行基因分型.结果:总共发现NDUFB6基因的6个SNP,其中3个SNP出现频率较高.NDUFB6基因启动子的1个SNP(-1211C>T)在2型糖尿病人群与正常人群有显著差异(PT多态性可能与2型糖尿病的发病有关.“,”Objective:To investigate the association of mitochondrial NDUFB6 gene with type 2 diabetes by single nucleotide polymorphism(SNP) detection and genotyping.Methods:Sequences of coding regions(including sequence near splicing site) of NDUFB6 gene was detected by PCR-sequencing in 15 type 2 diabetics and 9 normal controls.To high frequency SNPs,PCRsequencing was used in 192 type 2 diabetics and 192 normal controls for geno-typing.Results:A total of 6 SNPs were identified for NDUFB6 gene;there were 3 high frequency SNPs and 3 low frequency SNPs.One SNP(-1211C>T) located in the promoter region of NDUFB6 had significant difference of genotype distribution between type 2 diabetics and controls(PT polymorphism may associate with type 2 diabetics in Chinse.