【摘要】 目的采用单核苷酸多态性(SNP)标记,在以往所发现的中国汉族2型糖尿病相关基因定位区域(20q13)内寻找疾病易感基因位点。方法选取70例散发糖尿病病人及其正常配偶作为研究对象,通过生物信息学方法在公共SNP数据库中查找定位区域内11个候选基因的21个SNP位点,用等位基因专一性实时PCR方法进行分型,并做病例—配偶对照关联分析。结果21个SNP中有8个在中国人群中为常见SNP位点。病例—配偶对照关联分析结果显示,PRex1基因的SNP位点rs3936192的等位基因频率在2型糖尿病组和正常对照组间有显著性差异(P=0.0280)。结论上述SNP位点可能与中国汉族2型糖尿病相关,为进一步研究这一位点所在的基因与2型糖尿病的关系提供了理论依据。更多还原

【Abstract】 ObjectiveTo probe candidate genes of type 2 diabetes in the chromosome 20q13 which is highly associated with the disease in our former studies.MethodsTwenty-one SNP sites located in 11 candidate genes were chosen from public SNP domain by bioinformatic methods, and the allele-specific real-time PCR method was used to genotype the locations in 70 sporadic type 2 diabetes patients and their normal spouse to perform case-spouse control study(CSCS). Association studies were carried out using different statistical analyses.ResultsAmong the 21 SNPs, 8 were high frequency SNP in the Chinese population and 13 were not. SNP genotyping and association study showed a significant difference (P=0.028) in the allelic frequency of rs3936192 in PRex1 gene between type 2 diabetes patients and normal spouse.ConclusionThe SNP may be associated with type 2 diabetes in the Han Chinese, which lays the basis for further study of the relation between the localized gene with type 2 diabetes.更多还原