2型糖尿病侯选基因Neurod 1、Neurod 4和GPD 2的突变检测  

Detection of mutations of Neurod 1, Neurod 4, GPD 2 genes with type 2 diabetes mellitus

作　　者：孙卫华[1] 李果[1] 姜正文 骆天红[1] 黄薇 罗敏[1] 

机构地区：[1]上海第二医科大学瑞金医院上海市内分泌研究所,上海200025 [2]国家人类基因组南方研究中心

出　　处：《上海第二医科大学学报》2004年第2期101-104,共4页Acta Universitatis Medicinalis Secondae Shanghai

摘　　要：目的 研究侯选基因Neurod 1、Neurod 4和GPD2与2型糖尿病(2-DM)之间的关系。方法 采用双向测序和Polyphred软件,寻找单核苷酸多态性(SNP),对75～96份2-DM病人和75～96份正常人进行酶切、单管双向等位基因特异扩增和单碱基延伸反应进行基因分型及统计分析。结果 Neurod 1基因在中国2-DM病人中未找到SNPs,GPD 2基因找到1个 SNPs,Neurod 4基因找到6个SNPs。但基因分型研究未发现它们在2-DM病人和正常人之间有显著差异(P>0.05)。基因分型结果经测序检验均准确无误。结论 Neurod 1、Neurod 4和GPD 2基因与中国汉族人群2-DM无显著相关。Objective To determine the correlations between the three candidate genes, Neurod 1 , Neurod 4, GPD 2 in Chinese Han people with type 2 diabetes mellitus. Methods Single nucleotide polymorphisms (SNPs) were searched through sequencing by bi-directional and software polyphred. Genotyping was analysed by enzyme cutting, single-tube bi-directional allele specific amplification (SB-ASA) and Snap-shot between the normal people and 2-DM patients. Results In Chinese Han people Neurod 1 gene had no SNPs, GPD 2 had one SNPs and Neurod 4 gene had six SNPs, but there was no marked difference between the normal people and 2-DM patients (P >0. 05). Genotyping was quite right through sequencing. Conclusion Neurod 1 , Neurod 4 and GPD 2 genes have no correlations with Chinese Han people with type 2 diabetes mellitus.

关 键 词：2型糖尿病 侯选基因 Neurod1 Neurod4 GPD2 突变 检测 

分 类 号：R587.1[医药卫生—内分泌]