人类与医学遗传学10疾病基因组学-2015.ppt

策——精神分裂症　与创造力　——　患者的一些特点 Jaye： 孤独症儿童的主要表现是社会交往障碍、语言交流障碍 、刻板重复行为及狭窄兴趣； 爱因斯坦 孩提时不合群、不太会讲话，许多研究者坚持认为爱因斯坦患有孤独症； 牛顿也有一些孤独症表现，牛顿50岁的时候精神失常；但是，孤独症也可能与超常智力有关。 * 下面我们来解释如何追踪导致许多疾病发生的突变； * * * 这里第二阶段不仅是为了验证初筛阶段的结果，主要是想跟初筛阶段数据合并分析增加研究效力。所以选择了8230个SNP。 * Here I present the most significant associated SNPs identified by our GWAS on Chr1, 5, 6, which shows that there are several risk factors involved in the pathogenesis of psoriasis vulgaris in Chinese population. . * * 全球 * * * * 35 cycles amplification * Purpose: Graphic support to explain Solexa technology. Details: There are 2 market unique features to the Solexa technology for genome analysis = template clusters (in the flow cell) and reversibly terminated, individually fluorescently labeled nucleotides for Sequencing by Synthesis. The steps for sequencing by synthesis supported by this slide are: Hybridize sequencing primer (complimentary to terminal adaptor) Add polymerase and all 4 dNTPs Each dNTP is individually fluoerscently labeled and is reversibly blocked at the 3’ hydroxyl The 3’ block ensures only a single base addition. Once the single base addition occurs the clusters can be excited by a laser and the color of the added base can be imaged and determined. For every cluster, in cycle 1, the first base is added turning the entire cluster the color of the base. In the example shown in this cartoon at “T” is added, turning this cluster “green”. Once the first base has been imaged and determined, the fluorescent label is cleaved and 3’ blocking group is removed, regenerating a 3’-OH and enabling extension. Add polymerase and all 4 dNTPs and single base extension will occur for the second base in the template (in this cartoon the 2nd base is a “G”) The clusters can be excited by a laser and the color of the 2nd base is imaged and determined (in this cartoon the cluster color would be “blue”) Repeating this process allow us to step-wise determine the sequence of the original template. Conclusion: Explanation of te