先天性无虹膜症PAX6致病基因分析及其分子诊断研究  

A PAX6 Pathogenic Gene Analysis and Molecular Diagnosis of Congenital Aniridia

作　　者：魏谭伟 WEI Tan-wei(Department of Ophthalmology,Wuhan Puren Hospital,Wuhan 430081,Hubei,China)

机构地区：[1]武汉市普仁医院眼科,湖北武汉430081

出　　处：《医学信息》2022年第10期78-82,共5页Journal of Medical Information

摘　　要：先天性无虹膜症是一种眼部虹膜组织高度发育不良导致视功能严重异常的遗传病,其发病机制非常复杂,主要与调控虹膜发育的基因表达有关,其中最重要的调控基因是人类配对盒基因6(PAX6)。在眼部发育过程,PAX6由于各种原因发生基因突变导致表达异常,引起虹膜组织先天发育不良,导致无虹膜症的发生,严重影响人类视觉功能。随着分子生物学技术的发展,对于先天性无虹膜症致病基因PAX6的研究有很大的进展,本文对先天性无虹膜症的主要致病基因PAX6基因及其分子诊断方法作一综述,以期为先天性无虹膜症的基因靶向治疗提供理论基础。Congenital aniridia is a genetic disease with highly dysplasia of the iris tissue leading to severe abnormal visual function.The pathogenesis of congenital aniridia is very complex,mainly related to the expression of genes regulating iris development,among which the most important regulation gene is PAX6 gene.In the process of eye development,PAX6 gene mutation leads to abnormal expression due to various reasons,resulting in congenital dysplasia of iris tissue,which seriously affects human visual function.With the development of molecular biology technology,great progress has been made in the study of the pathogenic gene PAX6 of congenital aniridia.This paper reviews the main pathogenic gene PAX6 and its molecular diagnosis methods,providing a theoretical basis for gene targeted therapy of congenital aniridia.

关 键 词：先天性无虹膜症 PAX6基因 分子诊断 基因突变 

分 类 号：R773.1[医药卫生—眼科]