常染色体显性遗传视网膜色素变性的相关基因研究概况  

Progess of gene researches on autosoma dominant retinitis pigmentosa

作　　者：庄文娟[1] 盛迅伦 

机构地区：[1]中国宁夏医学院附属医院眼科,750004 [2]中国山东省青岛市经济技术开发区第一人民医院眼科,266555

出　　处：《国际眼科杂志》2004年第5期868-872,共5页International Eye Science

基　　金：中国国家自然科学基金资助(No.30260113)

摘　　要：视网膜色素变性(retinitispigmentosa,RP)是一种发病机制尚未完全明确的遗传性疾病,其在遗传和表型上具有较大的异质性。其中常染色体显性遗传视网膜色素变性(autosomadominantretinitpigmentosa,ADRP)占RP的20%～25%,目前发现至少有19个致病基因,其中11个已被克隆。本文将就ADRP的相关致病基因的研究进展作一综述。Retinitis pigmentosa (RP) is a common genetic form of retinal degeneration, but its pathogenesis is not completely clear. It is highly heterogeneous both genetically and phenotypically. Approximately 20%-25% RP is autosoma dominant retinitis pigmentosa. At present 19 genes causing autosoma dominant retinitis pigmentosa have been identified. In these genes, 11 genes have been cloned. This article reviews the newest progress of the virulence gene researches on ADRP.·

关 键 词：视网膜色素变性 常染色体显性遗传 ADRP 致病基因 相关基因 研究概况 遗传性疾病 异质性 

分 类 号：R774.1[医药卫生—眼科]