糖尿病定位区域D9s171中信号传导基因的多态研究  

The SNP detection of putative type 2-Diabetes susceptibility genes near marker D9s171 involved in insulin signaling pathway

作　　者：吴刚[1] 王耀槐[1] 王雪芹[1] 陈金锋[1] 金艳[1] 

机构地区：[1]南通医学院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）》2005年第1期35-37,共3页Journal of Nanjing Medical University(Natural Sciences)

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(singlenucleotidepolymorphism,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15737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。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 carried out using DNA samples from 9 normal controls and patients of 15 type 2-diabetic pedigrees, which had high NPL Scores on D9s171. 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.

关 键 词：2型糖尿病 基因 单核苷酸多态 

分 类 号：R587.1[医药卫生—内分泌]