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目的采用单核苷酸多态性(singlenucleotidepolymorphism,SNP)标记,在以往中国北方汉族人群2型糖尿病相关基因定位区域(1p36.33-p36.23)内寻找疾病易感基因位点。方法通过生物信息学方法在公共SNP数据库中查找定位区域内10个候选基因中的23个SNP位点,用单碱基延伸反应(singlebaseextension,SBE)法对北方汉族人群散发2型糖尿病患者(192例)及对照组(172例)进行分型及病例-对照关联分析。结果23个SNP位点中有8个为中国北方人群常见SNP位点;对病例组和对照组分型分析显示,位于蛋白激酶Cξ亚型(PRKCZ)基因中的一个位点(rs436045)及urotensinⅡ(UTS2)基因中的一个位点(rs228648),其等位基因频率在两组的差异具有统计学意义(P<0.05)。结论上述两个SNP位点可能和中国北方汉族人群2型糖尿病相关,以上结果为进一步研究上述两个位点所在的基因与2型糖尿病的关系提供了理论依据。
Objective To detect single nucleotide polymorphisms (SNPs) in susceptible loci of type 2 diabetes-related genes (1p36.33-p36.23) in Chinese Han population in the past. Methods Twenty-three SNPs of ten candidate genes were searched in the public SNP database by bioinformatics methods. The single base extension (SBE) method was used to detect the SNPs in type 2 diabetic patients (192 Cases) and control group (172 cases) were typed and case-control association analysis. Results Eight of the 23 SNPs were common SNP loci in northern China. Analysis of the genotypes of the case group and the control group showed that one locus (rs436045) and urotensin Ⅱ (Rs228648) in the UTS2 gene. The frequency of allele in the two groups was statistically significant (P <0.05). Conclusion The above two SNPs may be related to type 2 diabetes in Han population of northern China. These results provide theoretical basis for further study on the relationship between the two loci and type 2 diabetes.