大疱性鱼鳞病样红皮病遗传学研究进展

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.%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.