Dok5基因3'非编码区(3'UTR)的多态性与我国汉族2型糖尿病关系的初步研究  

Preliminary study on correlation between SNP in 3'-untranslated region (3'UTR) of Dok5 gene and type 2 diabetes in Chinese Han population

作　　者：刘雪梅[1] 朱丽媛[2] 安芳[1] 朱惠娟[3] 彭小忠[2] 潘慧[3] 

机构地区：[1]河北北方学院,河北张家口075000 [2]中国医学科学院北京协和医学院基础学院医学分子生物学国家重点实验室,北京100005 [3]中国医学科学院北京协和医院,北京100730

出　　处：《中国卫生检验杂志》2014年第14期2051-2053,共3页Chinese Journal of Health Laboratory Technology

摘　　要：目的在胞浆接头蛋白Dok5基因3'非编码区(3'UTR)筛查与我国汉族2型糖尿病(T2DM)相关的单核苷酸多态性(SNP)。方法从493例T2DM患者及573例健康体检者外周血中提取DNA,特异性扩增Dok5基因3'UTR并进行测序,分析筛查出的SNPs的等位基因及基因型频率。结果共检测到4种SNPs,分别为rs2842(G>A)、rs2841(G>A)、rs15899(T>C)及rs2843(C>G),只有rs2841的等位基因及基因型频率在两组间差异有统计学意义(P<0.01)。结论在Dok5基因3'UTR区鉴定出4个SNPs位点,其中rs2841可能是我国汉族2型糖尿病的功能性易感位点。Objective To investigate the association of single nucleotide polymorphisms （SNP） in 3＇- untranslated region of cytoplasmic adapter protein Dok5 gene with type 2 diabetes mellitus （T2DM） in Chinese Han population. Methods DNA was extracted from peripheral blood of 493 T2DM patients and 573 healthy controls for specific amplification and sequencing of 3 UTR of Dok5 gene, then the allele and genotype frequencies of the screened SNPs were analyzed. Results Four SNPs including rs2842 （ G 〉 A）, rs2841 （ G 〉 A）, rs15899 （ T 〉 C） and rs2843 （ C 〉 G） were identified. Only allele and genotype frequency of rs2841 had significant statistical differences between T2DM group and healthy control group （P 〈 0.01 ）. Conclusion Four SNPs were detected in 3UTR of Dok5 gene, and rs2841 maybe the functional susceptibility site for type 2 diabetes in Chinese Han population.

关 键 词：2型糖尿病 DOK5 单核苷酸多态性 等位基因 基因型 

分 类 号：R587.1[医药卫生—内分泌]