蛋白激酶Cξ亚型基因及UrotensinⅡ基因中各有一个单核苷酸位点与中国北方汉族人群2型糖尿病相关  

The Association of Two Single Nucleotide Polymorphisms in PRKCZ and UTS2Respectively with Type2Diabetes in Han People of Northern China

作　　者：孙红霞[1] 杜玮南[1] 左瑾[1] 吴国栋[1] 史贵彬 沈岩[1] 强伯勤[1] 姚志建 杭建梅 王姮[1] 黄薇 陈竺 方福德[1] 

机构地区：[1]中国医学科学院中国协和医科大学基础医学研究所医学分子生物学国家重点实验室,北京100005

出　　处：《中国医学科学院学报》2002年第3期223-227,共5页Acta Academiae Medicinae Sinicae

基　　金：国家自然科学基金重大项目(39896200);国家高技术研究发展计划863重点项目基金(2001AA221161);国家重点基础性研究973项目基金(G1998051016);北京自然科学基金(7002026)资助

摘　　要：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 probe the candidate susceptibility gene (s)of type2diabetes in the formal mapping region,1p36.33-p36.23,in Han people of Northern China using single nucleotide polymor-phisms (SNPs).Methods 23SNPs located in10candidate genes in the mapping region were chosen from public SNP domain by bioinformatic methods and single base extension(SBE)method were used to genotype the loci in192sporadic type2diabetes patients and172normal individuals to perform case-control study.Results Among the23SNPs,8were found to be common in Chinese population.There were statistically different in the allele frequency of2SNP,rs436045in the protein kinase C/ξgene and rs228648in UrotensinⅡgene between case and control groups.Conclusions The two SNP may be associated with type2diabetes in Han people of China,which makes base for further study of the relation between the genes they located with type2diabetes.

关 键 词：慢白激酶Cζ亚型基因 UROTENSIN Ⅱ基因 中国 北方汉族人群 单核苷酸多态性标记 2型糖尿病 病例-对照关联分析 

分 类 号：R587.1[医药卫生—内分泌] Q987[医药卫生—内科学]