BIGH3相关性角膜营养不良的分子遗传学研究进展  

Progress in the study of molecular genetics of BIGH3 related corneal dystrophy

作　　者：龙燕[1] 顾扬顺[1] 

机构地区：[1]浙江大学医学院附属第一医院眼科,杭州310000

出　　处：《眼科研究》2007年第12期986-988,共3页Chinese Ophthalmic Research

摘　　要：BIGH3相关性角膜营养不良是临床上一种较常见的致盲性遗传眼病,大多为单基因常染色体显性遗传。其防治的关键在于通过揭示更多BIGH3基因的突变位点及其相关发病机制,以提供准确的临床诊断和基因治疗。近年来的研究表明,位于BIGH3基因4、11、12、14号突变位点外显子上的突变类型可能通过改变其表达蛋白(KE蛋白)的结构、诱导凋亡、影响蛋白的黏附爬行功能等机制引起角膜异常蛋白沉积而致病。就目前国内外该病分子遗传学方面的研究做一简要综述。BIGH3 related corneal dystrophy is a leading blindness of hereditary eye disease, most of them are single-gene autosomal dominant inheritance. As the human eye ages, serious visual impairment often lead to corneal transplantation,but the disease may recrudesce after operation. Therefore to find out more causative gene mutations and interrelated pathogenesis can provide us a new method in diagnosis and potential therapy which is the key point in prevention and treatment of the disease. Recent research has shown that BIGH3 gene includes seventeen exons,and it has been identified to be the first nosogenetic gene, thereinto,the exons four, eleven, twelve and fourteen are the gene mutation hot spots. The gene mutation may induce abnormal protein structure,apoptosis,hindrance of cell adhesion and spreading which lead to protein deposits in the cornea. The researches about molecular genetics are summarized in the paper.

关 键 词：角膜营养不良 BIGH3基因 分子遗传学 

分 类 号：R772.21[医药卫生—眼科]