PAX6基因突变与先天性无虹膜症  

PAX6 Gene Mutation and Congenital Aniridia

作　　者：张盼[1] 寇瑶[1] 李国清[1] 杜柏均[1] 邵金辉[1] 田静[1] 

机构地区：[1]西北大学生命科学院,西安710061

出　　处：《基因组学与应用生物学》2016年第3期528-534,共7页Genomics and Applied Biology

基　　金：西北大学科研启动基金(批准号:PR13098)资助

摘　　要：先天性无虹膜症是一种罕见的人类眼部遗传病,通常由常染色体显性突变引起。主要表现为先天性虹膜缺失或者发育不全,伴随多种眼部异常。其致病基因为PAX6,是PAX家族的成员之一,1991年被定位克隆,从此揭示它对眼发育至关重要的调节作用。我们综述了PAX6蛋白在眼部发育过程中的作用及PAX6基因突变导致的一些眼发育异常,着重总结了先天性无虹膜症的临床表现、研究进展,并对PAX6基因突变数据库的相关数据进行了分析。Congenital aniridia was a rare human ocular genetic disease,and it usually caused by autosomal dominant mutation. The classical feature was congenital absence or hypoplasia of iris,with a variety of ocular anomalies. Congenital aniridia was caused by PAX6 mutation,which was a member of PAX gene family. Since PAX6 was positional cloned in 1991,its crucial regulatory role in eye development was revealed. This paper reviewed functions of PAX6 protein in eye development and some ocular disorders caused by PAX6 gene mutation. We mainly summarized the clinical manifestations and research progress of aniridia and analyzed the data from PAX6 Allelic Variant Database.

关 键 词：PAX6基因 基因突变 先天性无虹膜症 

分 类 号：R773.1[医药卫生—眼科]