DNA的修复和转座.pptVIP

单倍型：位于染色体上某一区域的一组相关联的SNP等位位点。相邻SNP的等位位点倾向于以一个整体遗传给后代。 基因编码区SNP(cSNP) 同义基因编码区SNP 不影响蛋白质的氨基酸序列。 非同义基因编码区SNP，导致生物性状改变的直接原因。 基因调控区SNP(pSNP) 基因间随机非编码区SNP(rSNP) 2.7.2 SNP的检测技术 基因芯片技术 短的核苷酸探针在和互补的目的片段进行杂交时，完全匹配和有错配两种情况下，根据杂交复合体稳定性的不同而将SNPs位点检测出来 （差异越大，检测的特异性越好） Taqman技术 分子导标技术 焦磷酸测序法 DNA聚合酶在一种dNTP的存在下进行引物延伸反应，而引物的成功延伸将伴随焦磷酸的释放，焦磷酸在荧光素酶的存在下能引发化学发光反应，通过发光计的实时监测来达到检测目的。 2.7.3 SNP的应用 人类单倍型图的绘制 描述人类常见的遗传多态性模式和染色体上具有成组紧密关联SNP的区，为精确定位复杂疾病的易感基因提供重要信息。 SNP与疾病易感基因的相关性分析 指导用药与药物设计 * * Transposons that mobilize via DNA are found in both prokaryotes and eukaryotes. Each bacterial transposon carries gene(s) that code for the enzyme activities required for its own transposition, although it may also require ancillary functions of the genome in which it resides (such as DNA polymerase or DNA gyrase). Comparable systems exist in eukaryotes, although their enzymatic functions are not so well characterized. A genome may contain both functional and nonfunctional (defective) elements. Often the majority of elements in a eukaryotic genome are defective, and have lost the ability to transpose independently, although they may still be recognized as substrates for transposition by the enzymes produced by functional transposons (for review see 164). A eukaryotic genome contains a large number and variety of transposons. The fly genome has 50 types of transposon, with a total of several hundred individual elements. * * * * 2.5.2.3 Excision repair system 切除修复系统 碱基切除修复系统 核苷酸切除修复系统 碱基切除修复系统 识别受损核酸位点的糖苷水解酶，能特异性切除受损核苷酸上的N-β-糖苷键，在DNA链上形成AP位点； AP核酸内切酶切开受损核苷酸的糖苷-磷酸键，移去包括AP位点核苷酸在内的小片段DNA； 一类DNA糖苷水解酶只对应于某一特定类型的损伤。 糖苷水解酶 核苷酸切除修复系统 当DNA链上相应位置的核苷酸发生损伤，导致双链之间无法形成氢键，则由此系统负责修复。 Unlike base excision repair, the nucleotide excision repair enzymes do not recognize any particular lesion. Rather, this system works by recognizing distortions（扭曲，变形） to the shape of the double helix, such as those caused by a thymine dimer or by the presence of