中国麻风皮肤病杂志 ›› 2017, Vol. 33 ›› Issue (6): 381-384.

• 综述 • 上一篇    

大疱性鱼鳞病样红皮病遗传学研究进展

陈平姣1  李常兴2  曾抗1  张锡宝3   

  1. 1南方医科大学南方医院皮肤科，广东广州,510515
    2东莞市第六人民医院，广东东莞,523008
    3广州医科大学皮肤病研究所/广州市皮肤病防治所，广东广州,510095
  • 出版日期:2017-06-15 发布日期:2018-12-19
  • 通讯作者: 曾抗，E-mail：npfkzk@163.com 张锡宝， E-mail: zxibao@126.com

Update of the genetics of bullous congenital ichthyosiform erythroderma

CHEN Pingjiao1, LI Changxing2, ZENG Kang1, ZHANG Xibao3.   

  1. 1. Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China; 2. Department of Dermatology, Dongguan Sixth People's Hospital, Dongguan, 523008, China; 3. Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, 510095, China
  • Online:2017-06-15 Published:2018-12-19
  • Contact: ZENG Kang, E-mail: npfkzk@163.com ZHANG Xibao, E-mail: zxibao@126.com

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摘要： 先天性大疱性鱼鳞病样红皮病（BCIE）属于常染色体显性遗传性疾病，主要由KRT1和KRT10基因突变引起。近年来对BCIE的基因遗传学研究取得了很大进展，本文就该病的遗传模式、遗传学研究策略和研究进展进行了综述。

关键词: 先天性大疱性鱼鳞病样红皮病, 遗传学, 角蛋白1和10, 基因突变

Abstract: Bullous congenital ichthyosiform erythroderma (BCIE) is an autosomal dominant inherited disease and the mutations of KRT1 and KRT10 are the key in the pathogenesis of the  disease. Studies on the genetics of BCIE have been developed in recent years. In this review, we summarize the patterns, strategies and the update progress of the genetic researches on BCIE.

Key words: bullous congenital ichthyosiform erythroderma, genetics, keratin1and keratin10, gene mutation