全基因组外显子序发现逆向性痤疮的致病基因ncstn.pdf

目 录 英文缩略词表······························································································1 中文摘要······································································································3 英文摘要······································································································6 正文············································································································10 1.前言·········································································································10 1.1 遗传性疾病及遗传性皮肤病··························································10 1.2 逆向性痤疮概述··············································································12 1.3 逆向性痤疮的流行病学及病因遗传学··········································13 1.4 研究背景与研究目的······································································13 1.5 本课题研究思路··············································································15 2. 实验材料与方法···················································································16 2.1 研究对象························································································16 2.1.1 全基因组外显子测序研究对象···········································16 2.1.2 NCSTN 在其它家系(家系Ⅱ) 突变筛查研究对象················18 2.1.3NCSTN mRNA 表达研究研究对象·······································19 2.2 研究试剂························································································20 2.3 研究仪器························································································22 2.4 电子数据库和分析软件································································25 2.5 实验方法························································································27 2.5.1 样本资料的收集···································································27 2.5.2 全血标本采集························