全基因组外显子测序发现逆向性痤疮的致病基因ncstn

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1、目录英文缩略词表······························································································1中文摘要······································································································3英文摘要············································

2、··························································6正文············································································································101.前言···················································································

3、······················101.1遗传性疾病及遗传性皮肤病··························································101.2逆向性痤疮概述··············································································121.3逆向性痤疮的流行病学及病因遗传学··········································131.4研究背

4、景与研究目的······································································131.5本课题研究思路··············································································152.实验材料与方法·················································································

5、··162.1研究对象························································································162.1.1全基因组外显子测序研究对象···········································162.1.2NCSTN在其它家系(家系Ⅱ)突变筛查研究对象················182.1.3NCSTNmRNA表达研究研究对象··························

6、·············192.2研究试剂························································································202.3研究仪器························································································222.4电子数据库和分析软件····································

7、····························252.5实验方法························································································272.5.1样本资料的收集···································································272.5.2全血标本采集·······································

8、································272.5.3基因组DNA提取································································272.5.4基因组DNA电泳································································282.