基因诊断着色性干皮病二例  

Two cases of xeroderma pigmentosum diagnosed by gene diagnosis

作　　者：刘腾[1] 刘文斌[1] 杨秀敏[1] 魏爱华[1] LIU Teng;LIU Wen-bin;YANG Xiu-min(Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China)

机构地区：[1]首都医科大学附属北京同仁医院皮肤科,北京100730

出　　处：《实用皮肤病学杂志》2019年第2期112-114,116,共4页Journal of Practical Dermatology

摘　　要：总结报告2例经基因检测分型的着色性干皮病患者(分别为着色性干皮病C组和变异组)及其4种基因变异,其中2种为新变异:POLH基因c.1403delC(p.P468Qfs*3)移码突变和c.592G>A(p.E198K)错义突变。该研究结果丰富了人类基因突变数据库,为着色性干皮病的基因诊断和遗传咨询提供了重要信息。Two cases of Chinese patients with xeroderma pigmentosum(XP) with novel mutations diagnosed by gene test were reported, which belonged to XPC and XPV respectively. Four mutations were identified, two of which were novel frame shift mutation of c.1403 delC(p.P468 Qfs~*3) and missense mutation of c.592 G>A(p.E198 K) in POLH. These results enrich the human gene mutation database and will be useful for the genetic testing and genetic counseling of XP patients.

关 键 词：着色性干皮病 基因诊断 基因突变 

分 类 号：R758.58[医药卫生—皮肤病学与性病学]