BIGH3基因与人角膜营养不良  

BIGH3 and corneal dystrophy

作　　者：葛红岩[1] 刘平[1] 

机构地区：[1]哈尔滨医科大学第一临床医学院眼科医院,中国黑龙江省哈尔滨市150001

出　　处：《国际眼科杂志》2006年第6期1386-1389,共4页International Eye Science

摘　　要：BIGH3基因突变有关的角膜营养不良现今已是角膜营养不良最常见的遗传学致病因素。在临床上,BIGH3基因突变主要导致两大类角膜营养不良,一类是颗粒状角膜营养不良,另一类是格子状角膜营养不良。阅读了大量关于BIGH3基因导致的角膜营养不良文献,现从BIGH3的发现、表达产物、基因突变位点、导致临床角膜营养不良的分型及可能致病原因做一详细综述。Nowadays, BIGH3 gene mutation related corneal dystrophy is the most common etiological factor leading to corneal dystrophy in genetics. Clinically, BIGH3 gene mutation primarily causes two types of corneal dystrophy, namely, granular corneal dystrophy and lattice corneal dystrophy. After comprehensive literature review about BIGH3 gene related corneal dystrophy, this article will focus on the discussion of the discovery of BI GH3 gene, the gene product and the sites of mutation. The clinical classification and the potential causes of corneal dystrophy will also be explored.

关 键 词：BIGH3 角膜营养不良 角膜上皮蛋白 

分 类 号：R772.21[医药卫生—眼科]