SNPs功能学研究理论策略和实践博导论坛讲课文档.pptVIP

SNPs功能学研究理论策略和实践博导论坛;提 纲;DNA Structure;Human Genome Project ;基因突变;基因突变;基因突变;单核苷酸多态性;单核苷酸多态性;单核苷酸多态性;单核苷酸多态性;单核苷酸多态性;单核苷酸多态性;单核苷酸多态性;标签SNPs（TagSNPs）;SNP1 (locus 1);标签SNPs（TagSNPs）;提 纲;问题;基因选择;基因选择;基因选择;Apoptosis Pathway;Base Excision Repair Pathway;Folate Metabolism Pathway; ;基因选择;多态性位点选择;多态性位点选择;多态性位点选择;基因选择的总结;一、基于候选基因研究： 疾病发病机制假说 Environment-gene Interaction;实验室研究;实验室研究;实验室研究;SNPs相关数据库;SNPs相关数据库;研究设计和统计分析;Case-Control Study;Case-Control Study;Case-Control Study;Cancer;Cohort Study;Susceptibility: Diet, Metabolism, DNA damage Repair…;Case-Case Study;研究设计和统计分析;研究设计和统计分析;提 纲;Promoter and Gene Transcription;Date;基本概念;基本概念;Study Strategy of SNPs Functions within Promoter Region;背景;背景;主要研究方法;研究方案;EMSA;超级EMSA;EMSA原理;DNase I 足迹试验;Principle of the DNase I foot-printing assay;Principle of the DNaseI foot-printing assay;一般研究步骤;研究实例一 MDM2基因启动子区SNPs功能学研究;启动子的确定;Date;标签SNPs的确定及关联性研究;8个标签SNPs与膀胱癌发生危险性的关联性研究;Gene structure of MDM2, and the location of eight tagging SNPs identified by Haploview software. Three promoters are shown by arrows. ;假说的提出;研究方案及主要结果;生物信息学软件预测结果;研究方案及主要结果;Reconstructed LD plot among 13 MDM2 SNPs in 100 southern Chinese control subjects by the Haploview software. The value among each diamond represents the pairwise correlation between SNPs (measured by D’) defined by the upper left and the upper right sides of the diamond. The diamond without a number corresponds to D’ = 1. Shading represents the magnitude and significance of pairwise. ;报告基因试验结果;C1797G多态性与膀胱癌组织MDM2 mRNA表达水平关系（RT-PCR）;Date;研究实例二 RUNX3标签SNPs与 膀胱癌遗传易感性研究;RUNX3 基本信息;RUNX3 的定位、结构特点;TagSNPs选择;Significance of each tagSNPs. Associations of tagSNPs are indicated by negative base-10 logarithm of the P values for each allele. Point above the dotted line represents tagSNP association found to be significant at the P = 0.05 level.;rs760805分层分析;10个tagSNPs单倍型分析;SNPs之间交互作用研究;Interaction dendrogram: The colors indicate the type of interactions. Red denotes a high degree of interaction, o