我国角膜营养不良的基因研究现状  

Genetic studies of corneal dystrophies in China:current status

作　　者：李杨[1] 

机构地区：[1]首都医科大学附属北京同仁医院眼科中心,北京市眼科研究所,100005

出　　处：《眼科》2005年第3期204-205,共2页Ophthalmology in China

摘　　要：角膜营养不良是一组原发性、遗传性疾病。现代分子遗传学研究的发展使我们对角膜营养不良的认识产生了深远的影响,其在角膜营养不良的诊治中发挥了越来越重要的作用。角膜营养不良的基因研究可使我们从分子水平探讨其发病机理,明确角膜营养不良的诊断和分类。本文概述了近年来我国角膜营养不良分子遗传学的研究状况。Modern molecular genetics has had a profound effect on our understanding of corneal dystrophies,it also play a important role in the diagnosis and therapy of corneal dystrophies.Gene research of corneal dystrophies has made it possible exploring pathogenesis in molecular level,definitely diagnosing and classing of corneal dystrophies.Several groups did the BIGH3 gene mutation screening in many patients with corneal dystrophies from China and found two mutation 'hot spots' localized in amino acids:R124 and R555.One group performed molecular genetic analysis on the M1S1 gene in a Chinese family with gelatinous droplike corneal dystrophy and identified the compund heterzyous mutations including one novel heterozygous mutation Y184C.

关 键 词：角膜营养不良 基因 基因突变 

分 类 号：R772.21[医药卫生—眼科]