基因与基因组学幻灯片.pptVIP

SNP是人群中体现个体差异的最基本的遗传变异. 是疾病易感差异的遗传学基础. SNP is the most basic hereditary variation of the individual difference in the crowd. It is a hereditary foundation of susceptivity to disease among a crowd or individual 同时也是重要的遗传标记. It is the important genetic mark at the same time 复杂疾病的易感基因一般包含了一组微效基因,它不是决定疾病本身,而是对疾病的遗传易感性. The predisposing gene of complex disease generally includes a group of minor gene . it does not determine disease, but the Genetic susceptibility to disease 复杂疾病的发病取决于遗传因素的累加效应和与环境的相互作用 The morbidity of the complex disease depends on the accumulation effect of the hereditary factor and the interaction of hereditary factor and environment Thank you! * * 定义ＳＮＰ位点必须满足该位点的变异在人群中出现的频率大于１％ Define a SNP position must suffice the frequency of the variation of this position appears more than 1% in public １９９６年由麻省理工学院 Lande ES提出。 按核甘酸置换类型，ＳＮＰ包含有：According to the nucleus acid replacement type, SNP contains: G/A, C/T, G/T, A/C, A/T和 G/C. 是人类基因组内最为广泛的遗传变异，占ＤＮＡ多态性的９０％ It is the most widespread hereditary variation in the human genome, occupies 90% of DNA polymorphism ） SNP What is a SNP? 发生在基因内和调节区的SNP可影响基因功能。 In the inside of gene and regulation area,SNP may affect the gene function. 同时，SNP也是目前用于寻找疾病易感基因的重要遗传标记。 At the same time, SNP is also the important genetic marker uses in seeking for disease susceptibility gene at present 基因检测示例 example of gene detection 基因组学(Genomics) 是阐明基因组结构、结构与功能的关系以及基因与基因之间的相互作用的科学. Expounds the genome structure, relations between the structure and the function as well as interactions between the gene and the gene science. 主要内容包括： 结构基因组学 Structural genomics 功能基因组学 Functional genomics 比较基因组学 comparative genomics 随着基因组研究的深入，一系列基因组学也应运而生，如： 环境基因组学(enviromental genomics) 行为基因组学(behavioral genomics) 营养基因组学(nutritional genomics) 药物基因组学（pharmacogenomics) Duchenne肌营养不良症（假性肌肥大型） 白化病患者 21三体综合症患儿 （先天愚型） 唇裂与腭裂 第四节 基因组变异与人类疾病 1 单基因病 2 多基因病 3 获得性基因病 基因病分类 （