先天性角化不良与端粒酶、端粒相关基因的研究进展  

Telomerase and telomere in dyskeratosis congenita

作　　者：刘香[1] 邓伟平[2] 

机构地区：[1]南方医科大学,广州510515 [2]广东省人民医院皮肤科,广州510080

出　　处：《国际皮肤性病学杂志》2011年第2期100-102,共3页International Journal of Dermatology and Venereology

基　　金：广东省科技计划基金

摘　　要：先天性角化不良是一种具有遗传异质性的皮肤遗传病,其临床特征为黏膜白斑、甲营养不良、皮肤异色症、骨髓衰竭、肿瘤易感性以及其他系统损害.目前研究表明,其发病与端粒的长度缩短相关.端粒酶组分的基因突变可导致端粒酶活性的降低,使端粒缩短.概述引起端粒酶活性降低、端粒缩短的端粒酶组分的多个相关基因的研究进展,进一步阐明先天性角化不良的发病机制.Dyskeratosis congenita （DC） is a rare skin disorder with heterogeneity, which is characterized by mucosal leukoplakia, nail dystrophy, abnormal skin pigmentation, bone marrow failure, cancer predisposition and other system damage. Currently, it is revealed that the pathogenesis of DC is related to the shortening of telomere length. Gene mutation of telomerase complex may result in a decline in telomerase activity and shortening of telomere length. This paper presents the advances in researches of telomerase complex genes responsible for reduction in telomerase activity and shortening of telomerase length, which may facilitate further elucidation of DC pathogenesis.

关 键 词：角化不良 先天性 端粒 基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]