X连锁隐性遗传鱼鳞病基因突变研究进展  

Advances in the Research of X-Linked Recessive Ichthyosis Caused-gene Mutations

作　　者：席红利[1] 蒋玮莹[1] 

机构地区：[1]中山大学医学院医学遗传学教研室,广州510080

出　　处：《国际遗传学杂志》2008年第6期463-466,共4页International Journal of Genetics

基　　金：国家自然科学基金面上项目（30571025）

摘　　要：X连锁隐性遗传鱼鳞病（XLRI）是一种常见的遗传角化障碍性皮肤病，以皮肤干燥、大块状、深褐色鳞屑脱落为主要表现。皮肤以外的特征包括：角膜混浊和隐睾症等。1978年已经有研究阐述了类固醇硫酸酯酶（steroid sulfatase，STS）的缺陷与XLRI发生的内在关系。STS基因定位于Xp22．3。该区域逃避了X染色体失活，具有很高的缺失频率，约90％的患者存在STS基因的完全缺失。男性患者的诊断和携带者的筛查主要依赖于生化检测和遗传学分析。目前已经有很多关于XLRI病分子遗传学的研究。本文主要就X连锁隐性遗传性鱼鳞病基因突变特点和基因诊断作一综述。X-linked recessive ichthyosis （XLRI） is a genetic disorder of keratinization characterized by neurosis cutis and generalized desquamation of large, adherent, dark brown scales. Extracutaneous manifestations include corneal opacity and cryptorchidism. Since 1978, it has been known that a deficit in steroid sulphatase enzyme （STS） is responsible for XLRI. The STS gene has been mapped to XP22.3, the distal part of the short arm of the X chromosome. This region escapes X chromosome inactivation and has the highest ratio of chromosomal deletions. About 90% of patients have complete STS gene deletion. Diagnosis of male patients with X-linked ichthyosis and female carriers is based on biochemical and genetic analysis. Many studies about molecular genetics in XLRI have been performed. This review will summarize the advancement in the STS gene mutations and gene diagnosis of XLRI.

关 键 词：X连锁隐性遗传鱼鳞病 类固醇硫酸酯酶 基因缺失 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]