单核苷酸多态性分析技术在2型糖尿病易感基因研究中的应用特点  

Single nucleotide polymorphism analysis applied to research susceptible genes of type 2 diabetes

作　　者：杨春香[1] 史进方[1] 顾国浩[1] 

机构地区：[1]苏州大学附属第一医院检验科(江苏省临床免疫学重点实验室),江苏省苏州市215006

出　　处：《中国组织工程研究与临床康复》2007年第13期2559-2562,共4页Journal of Clinical Rehabilitative Tissue Engineering Research

基　　金：江苏省临床免疫学重点实验室基金资助项目(200319)~~

摘　　要：目的:总结单核苷酸多态性分析技术在2型糖尿病易感基因研究中的应用成果。资料来源:应用计算机检索2000-01/2006-10Pubmed数据库与2型糖尿病易感基因相关的文献,检索词“type2diabetes,susceptibility gene”,并限定语种为“English”。同时检索2000-01/2006-10CNKI数据库相关文献,检索词“SNP,检测方法”,并限定语种为中文。同时手工检索相关书籍。资料选择:主要纳取实用性强和技术较新的单核苷酸多态性检测方法以及其在2型糖尿病易感基因研究中的具体应用。排除重复文献。资料提炼:对选择的文献进一步查找全文,共提炼出28篇文章进行综述,其中8篇中文文献,20篇英文文献。资料综合:2型糖尿病属于复杂遗传病,探索其基因基础,可为新的治疗方案提供资料。单核苷酸多态性分析技术可观察2型糖尿病与特殊的等位基因、基因型以及单倍体之间的关系,在研究易感基因方面有重要作用。而目前常用的单核苷酸多态性分析技术有:直接测序技术、限制性片段长度多态性分析技术、TaqMan探针技术、质谱分析法、基因芯片技术、分子信标技术、变性高效液相色谱技术、连接酶检测反应技术和多靶点液相芯片法技术等。结论:单核苷酸多态性分析技术作为易感基因研究的新技术,其应用日益广泛和深入。人们已发现一些基因的单核苷酸多态性位点的多态性可能与2型糖尿病的发生密切相关。所以,如何选择合适的单核苷酸多态性分析技术对糖尿病的易感基因进行深入研究是至关重要的。OBJECTIVE： To review the advanced development of single nucleotide polymorphism （SNP） analysis technology, which is applied to research susceptible gene of type 2 diabetes mellitus （T2DM）. DATA SOURCES： A computer-based search of English article about T2DM susceptible gene published from January 2000 to October 2006 was conducted in Pubmed by using the key words of “type 2 diabetes, susceptibility gene”. Meanwhile, CNKI was searched for relevant Chinese articles from January 2000 to October 2006 with the key words of “SNP, detection method”, and related books were retrieved manually. STUDY SELECTION： Articles related to the new and useful technology for SNP analysis and using in the investigation of T2DM susceptible gene were collected. Repetitive studies were excluded. DATA EXTRACTION： All the data were looked up for full-texts, a total of 28 articles were reviewed, including 8 Chinese articles and 20 English articles, DATA SYNTHESIS： T2DM has multifactorial inheritance, and investigation the basis of the genetic traits of T2DM could lead to the identification of new therapeutic targets. Analysis of SNP plays important role on investigating the relationship between T2DM status and particular alleles, genotype or haplotype, and on studying the susceptible gene, Currently, the analysis of SNP includes the techniques of direct sequence, restriction fragment length polymorphism, TaqMan probe, mass spectrometry, gene chip, molecule beacon, high performance liquid chromatogram, ligase response detection, multitarget liquid phase chip and so on. CONCLUSION： SNP analysis technology is a new technology to research susceptible gene, and its application is more and more extensive. We have already found a number of genes and polymorphisms are significantly associated with T2DM. So, how to choose the appropriate SNP analysis technology is critical to the success of studying the susceptible gene of T2DM.

关 键 词：2型糖尿病 单核苷酸多态性 检测技术 

分 类 号：R342.43[医药卫生—基础医学]