线粒体NDUFB6基因单核苷酸多态与2型糖尿病关系的研究  

The SNP study of mitochondrial NDUFB6 gene with type 2 diabetes

作　　者：吴刚[1] 苏建彬[1] 徐峰[1] 王晓华[1] 王雪琴[1] 

机构地区：[1]南通大学第二附属医院内分泌科,江苏南通226001

出　　处：《南京医科大学学报（自然科学版）》2013年第3期368-371,共4页Journal of Nanjing Medical University(Natural Sciences)

摘　　要：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(P<0.05)。结论:NDUFB6基因启动子的-1211C>T多态性可能与2型糖尿病的发病有关。Objective：To investigate the association of mitochondrial NDUFB5 gene with type 2 diabetes by single nuclcotide 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,PCR- sequencing was used in 192 type 2 diabetics and 192 normal controls for geno-typing. Results：A total of 5 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 （P 〈 0.05）. Conclusion：The NDUFB6 gene -1211C 〉 T polymorphism may associate with type 2 diabetics in Chinse.

关 键 词：NADH脱氢酶泛素1亚单位基因 单核苷酸多态性 2型糖尿病 

分 类 号：R587.1[医药卫生—内分泌]