遗传性先天性白内障相关的基因突变和机制的研究进展  

Research Progress of Genetic Mutation and Mechanism of Hereditary Congenital Cataract

作　　者：杨家翼 邢怡桥[1] YANG Jiayi;XING Yiqiao(Eye Center,Renmin Hospital of Wuhan University,Wuhan 430060,China)

机构地区：[1]武汉大学人民医院眼科中心,武汉430060

出　　处：《医学综述》2018年第23期4640-4646,共7页Medical Recapitulate

摘　　要：遗传性先天性白内障是一种常见的儿童疾病,是儿童致盲和弱视的一个重要原因。遗传性先天性白内障的种类较多,具有明显的遗传异质性,且表型多样。目前遗传性先天性白内障主要分为常染色体显性遗传,常染色体隐性遗传和X连锁遗传三大类。近年来,对遗传性先天性白内障发病机制的研究有了很大进展,不断有新的致病基因被发现。目前的许多研究表明,某些基因改变导致相关晶状体内蛋白的结构及功能异常与先天性白内障的形成密切相关。Congenital cataract is a common childhood disease,and it′s an important cause of blindness and amblyopia in children.There are many kinds of hereditary congenital cataracts with obvious genetic heterogeneity and diverse phenotypes.Hereditary congenital cataract can be divided into three major types of autosomal dominant inheritance,autosomal recessive inheritance and X-linked inheritance.In recent years,great progress has been made in the study of the pathogenesis of hereditary congenital cataract,and new pathogenic genes have been discovered.At present,many studies have shown that changes of some genes leading to structural and functional abnormalities of proteins in lens are closely related to the formation of congenital cataract.

关 键 词：遗传性先天性白内障 基因突变 晶状体蛋白α 膜嵌入蛋白 同源盒基因 

分 类 号：R776.1[医药卫生—眼科]