先天性白内障的分子遗传学研究进展  

The molecular genetics progress of congenital cataract

作　　者：孙倩倩[1] 杨昭庆[1] 黄小琴[1] 

机构地区：[1]中国医学科学院北京协和医学院生物研究所遗传室,昆明650118

出　　处：《国际遗传学杂志》2012年第6期334-340,共7页International Journal of Genetics

摘　　要：先天性白内障（congenital cataract）是指在孕期或胎儿期由于各种因素使晶状体发育受到影响，是儿童致盲的首要原因之一。先天性白内障有明显的临床异质性和遗传异质性，一般与晶体蛋白基因、缝隙连接蛋白基因、转录因子基因及其他基因突变有关，常见的遗传方式有常染色体显性遗传、常染色体隐性遗传和性染色体连锁遗传，其中以常染色体显性遗传最为常见。近几年先天性白内障的分子遗传学水平有了新的突破，此文就其研究进展进行综述。Congenital cataract, defined as abnormal development of crystalline lens, is caused by various factors during pregnancy. It is one of the major causes of blindness in children. Congenital cata- ract is usually hereditary. The autosomal dominant inheritance with complete penetrance is the most impor- tant type. Autosomal recessive and X-linked inheritances are also frequently seen. In the development of congenital cataract, genetic factors are very important, which has obviously phenotypical and genotypical heterogeneities. The objective of this review is to discuss the progress in the molecular genetics of congeni- tal cataracts, including the mutations of structural proteins in the lens, transcription factors, and some other genes.

关 键 词：先天性白内障 晶状体 基因突变 异质性 

分 类 号：R776.1[医药卫生—眼科]