糖尿病定位区域D9s171中信号传导基因的多态研究
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The SNP detection of putative type 2-Diabetes susceptibility genes near marker D9s171 involved in insulin signaling pathway
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    摘要:

    目的:对2型糖尿病定位区域(D9s171)中参与信号传导基因进行单核苷酸多态(single nucleotide po1ymorphism,SNP)检测.方法:使用荧光标记的直接测序法,对D9s171区域4个可能参与胰岛素信号传导基因的启动子、外显子以及临近的内含子进行测序,确定这些基因在华东地区汉族人存在的SNP.结果:所测4个基因片段总长15 737个碱基,有14个SNP,高频、低频分别是11个和3个.结论:4个候选基因在华东地区汉族2型糖尿病患者中有SNP;通过对这些SNP基因分型可进一步确定4个基因中是否存在2型糖尿病的易感基因.

    Abstract:

    Objective:The aim of the study was to identify the single nucleotide polymorphisms (SNPs) on type 2-diabetes susceptibility genes located on chromosome 9 D9s171. Methods: Putative type 2-diabetes susceptibility genes were selected based on their known potential involvement in insulin signaling pathway. Sequences of proximal promoter, coding regions (including sequence near splicing site) of each of 4 susceptibility genes were amplified by polymerase chain reaction (PCR). The PCR was carved out using DNA samples from 9 normal controls and patients of 15 type 2-diabetic pedigrees, which had high NPL Scores on D9sl71. PCR products were subjected to the direct bi-directional sequencing, and the sequencing data were analyzed with software Polyphred. SNPs in these genes among type 2 diabetics were detected. Results: A total of 14 SNPs were identified for 4 susceptibility genes; there were 11 high frequency SNPs and 3 low frequency SNPs. Conclusion: SNPs were identified in 4 candidate genes from patients of type 2 diabetes in East China, and these results should be confirmed or rejected in large sample genotyping study and association study in the future.

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.糖尿病定位区域D9s171中信号传导基因的多态研究[J].南京医科大学学报(自然科学版),2005,(1):35-37

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  • 收稿日期:2004-03-22
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