先天性角化不良症1例及其基因突变检测

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1、授予单位代码10089学号或申请号20153196中国图书分类号R75HebeiMedicalUniversity硕士学位论文专业学位先天性角化不良症1例及其基因突变检测研究生：彭丹丹导师：李玉平教授专业：皮肤病与性病学二级学院：河北医科大学第二医院2018年3月目录中文摘要············································································································1英文摘要·····

2、·······································································································2英文缩写············································································································4研究论文先天性角化不良症1例及其基因突变检测·················

3、···········5前言··············································································································5对象与方法··································································································6结果·························

4、·····················································································9附图············································································································12讨论························································

5、····················································14结论············································································································20参考文献······················································································

6、····················20综述先天性角化不良症的研究进展························································25致谢··················································································································36个人简历·······································

7、···································································37中文摘要先天性角化不良症1例及其基因突变检测摘要目的：探讨先天性角化不良症（DyskeratosisCongenita，DC）的临床表现及其可能的基因突变，进一步提高临床认识及诊断水平。方法：对我科门诊1例DC患者进行病史采集、体格检查、实验室检查及皮损处病理活检，为明确其是否存在热点基因突变或者新突变，对其家系行基因检测。经患者及其家属知情同意后抽取静脉血各5ml，采用

8、NGSPanel捕获测序（亚全外）的方法对6个热点基因（DKC1、TERT、TINF2、NPH2、NOP10、WRAP53）行基因突变检测。结果：1.患者女性，20岁，因颈部、前胸皮肤色素沉着、甲发育异常5年就诊。临床具有典型三联征：皮肤色素沉着、甲营养不良、黏膜白斑，伴头发稀少干枯，牙齿排列不整齐。2.血常规示红系及血小板减少，皮损处活检示：表皮轻度萎缩变薄，基底层色素稍增加及液化和空泡化改变，真皮浅层散在噬色