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先天性无虹膜相关基因的研究进展 被引量：3

Research advances in gene study of congenital aniridia
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摘要 先天性无虹膜是一种严重的先天性眼部发育异常,其发病机制尚待阐明,遗传因素在其发病中起重要作用。PAX6是最早发现的与其致病有关的基因,近来又发现ABCB6、FOXC1、PITX2、FOXD3、FOXE3、CYP1B1、SOX2等基因的异常表达与先天性无虹膜的发病有关。本文就近年来发现的可能与先天性无虹膜发病相关的基因进行综述,以期为该病的临床诊治提供依据。 Congenital aniridia is a severe eye disease with abnormal development.The pathogenesis remains to be elucidated.Genetic factors play a leading role in it.PAX6 is the first gene associated with congenital aniridia to be reported.Later abnormal expression of ABCB6,FOXC1,PITX2,FOXE3,CYP1B1 and SOX2 gene were found to be closely associated with congenital aniridia.This article reviews the genes related to congenital aniridia to lay a foundation for the diagnosis and treatment of congenital aniridia.
作者 曾光群 刘昊天 张丁丁
机构地区 彭州市人民医院检验科 广雅中学 四川省人民医院健康管理中心
出处 《眼科新进展》 CAS 北大核心 2016年第1期84-88,共5页 Recent Advances in Ophthalmology
基金 国家自然科学基金资助(编号:81271049 81470667)~~
关键词 先天性无虹膜 分子遗传学 基因 congenital aniridia molecular genetics gene
分类号 R773.1 [医药卫生—眼科]
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眼科新进展
2016年 第1期

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