线粒体NDUFB6基因单核苷酸多态与2型糖尿病关系的研究
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The SNP study of mitochondrial NDUFB6 gene with type 2 diabetes
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    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。

    Abstract:

    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,PCR-sequencing 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 (P < 0.05). Conclusion:The NDUFB6 gene -1211C > T polymorphism may associate with type 2 diabetics in Chinse.

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吴 刚,苏建彬,徐 峰,王晓华,王雪琴.线粒体NDUFB6基因单核苷酸多态与2型糖尿病关系的研究[J].南京医科大学学报(自然科学版),2013,(3):368-371

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  • 收稿日期:2012-10-19
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  • 在线发布日期: 2013-06-04
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