原发性先天性青光眼的分子遗传学研究新进展  

Recent advances in molecular genetics of primary congenital glaucoma

作　　者：李茅[1] 陈晓明[1] 夏庆杰[1] 

机构地区：[1]610041,四川成都,四川大学华西医院眼科

出　　处：《眼科新进展》2003年第1期67-70,共4页Recent Advances in Ophthalmology

摘　　要：原发性先天性青光眼 (primary congenital glauco-ma,PCG)是一种遗传性致盲眼病。其防治关键在于揭示PCG致病基因 ,实现基因诊断和治疗。近年来的分子遗传学研究确定 CYP1B1基因为 PCG致病基因之一。本文对CYP1B1基因突变及其遗传特点作一综述 。Primary congenital glaucoma (PCG) is a blind leading hereditary disease .To find out the PCG causative genes so that the gene diagnosis and therapy can be carried out is the key point in its prevention and treatment. Recently, CYP1B1 gene has been identified to be one of the PCG causative genes in recent researches. The CYP1B1 gene mutations and its hereditary features are reviewed as a reference for further researches.

关 键 词：原发性先天性青光眼 分子遗传学 PCG 致病基因 基因诊断 治疗 综述 

分 类 号：R775.2[医药卫生—眼科]