【摘要】 目的对中国北方汉族人群2型糖尿病候选易感基因蛋白激酶Cξ亚型(PRKCZ)内的单核苷酸多态性(singlenucleotidepolymorphismSNP)标记进行群体相关分析及连锁不平衡linkagedisequilibriumLD分析,寻找疾病相关单体型。方法通过生物信息学方法在公共SNP数据库中查找PRKCZ基因中的SNP位点,用单碱基延伸反应(singlebaseextensionSBE)法对北方汉族散发2型糖尿病患者173例及对照组152例进行分型及病例-对照关联分析和LD分析,构建SNP单体型区段(haplotypeblock)。结果PRKCZ基因中有多个SNP位点与疾病相关,它们在病例组和对照组构成不同的haplotypeblock结构。由5个SNP位点组成的单体型频率在两组人群间存在显著差异。结论PRKCZ基因内由5个SNP位点组成的单体型可能和中国北方汉族人2型糖尿病相关,进一步从统计学角度证实了PRKCZ基因为该人群疾病易感基因。更多还原

【Abstract】 Objective To search for the disease-associated haplotype in the PRKCZ gene,a susceptibility gene for type2diabetes in Han population of North China,by case-control study and linkage disequilibrium(LD)analysis using single nucleotide polymorphisms (SNPs).Methods SNPs located in the PRKCZ gene were chosen from public SNP domain by bioinformatic methods and single base extension(SBE)method was used to genotype the loci in173sporadic type2diabetes patients and152normal individuals to perform case-control study and LD analysis.Haplotype block were constructed in these populations.Results Several SNPs in the PRKCZ gene were found to be associated with the disease.The SNPs formed different haplotype block pattern in case and control groups.The frequencies of the haplotypes formed by5SNPs were statistically different between the two groups.Conclusion The haplotype formed by5SNPs in the PRKCZ gene may be associated with type2diabetes in Han population of China,which is confirmed from statistics to be a susceptibility gene for the disease.更多还原