中国汉族人播散性浅表性光化性汗孔角化症的分子遗传学研究进展  

Advances in molecular genetics of disseminated superfacial actinic porokeratosis in Chinese Han population

作　　者：李秀玲 王秀丽 张国龙 Li Xiuling;Wang Xiuli;Zhang Guolong(Department of Dermatology,the Central Hospitol of Wuhan Tong]i Medical College,Huazhong University of Science and Technology,Wuhan 430000,China)

机构地区：[1]华中科技大学同济医学院附属武汉市中心医院皮肤科,武汉430000 [2]上海市皮肤病医院光医学治疗科,200443

出　　处：《国际遗传学杂志》2018年第6期530-535,544,共7页International Journal of Genetics

摘　　要：汗孔角化症是一种少见的呈常染色体显性遗传模式的慢性进行性角化不全性皮肤病,临床上可分为五型,其中以播散性浅表性光化性汗孔角化症最为常见。目前,已报道与播散性浅表性光化性汗孔角化症发病相关的基因有MVK、MVD、FDPS、SSH1、SART3、SLC17A9共6个,本文就其致病基因的发现过程、可能的致病机制,基因型与表型的关联性分析作一综述。Porokeratosis is a rare hereditary chronic progressive keratosis of the skin disease, it is autosomal dominant inheritance. In the five types of porokeratosis, disseminated superfacial actinic porokeratosis is the most common. At present, it has been reported that there are 6 genes related to the incidence of disseminated superficial actinic porokeratosis: MVK, MVD, FDPS, SSH1, SART3, and SLC17A9. This article reviews the discovery of its causative genes, possible pathogenic mechanisms, analysis of genotype-phenotype correlation.

关 键 词：播散性浅表性光化性汗孔角化症 基因 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]