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青光眼的分子遗传学研究进展
周晓敏
樊宁 [综述]
刘旭阳 [综述]
作者及单位信息
·
DOI： 10.3760/cma.j.issn.2095-0160.2015.03.016
Advances in molecular genetics of glaucoma
Zhou Xiaomin
Fan Ning
Liu Xuyang
Authors Info & Affiliations
Zhou Xiaomin
Ophthalmic Laboratory, West China Hospital, Sichuan University, Chengdu 610041, China
Fan Ning
Liu Xuyang
·
DOI： 10.3760/cma.j.issn.2095-0160.2015.03.016
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摘要

青光眼是主要致盲眼病，青光眼性视神经退行性病变的特征表现为视网膜神经节细胞(RGCs)凋亡、视神经萎缩和视野缺损，眼压升高是青光眼视神经结构和功能损害主要的危险因素。原发性开角型青光眼(POAG)、慢性闭角型青光眼(CACG)以及剥脱性青光眼(XFG)是全球范围常见的青光眼类型。青光眼受遗传因素、环境因素的共同影响，其中遗传因素在几种主要类型的青光眼发病中均发挥重要作用。近年来，随着人类遗传学研究的快速发展和研究技术的不断提高，人们对青光眼的发病基础有了更多的认识，在青光眼发病相关的基因研究方面取得了较大的进步，一些致病基因及其致病机制相继被揭示。本文中对POAG、CACG、XFG及其他类型青光眼的分子遗传学研究进展进行综述。

人类;青光眼/遗传学;突变;青光眼/病因学
ABSTRACT

Glaucoma is the most common cause of irreversible blindness worldwide.The major performances of glaucoma optic neuropathy are progressive loss of retinal ganglion cells (RGCs), specific visual field defect and optic atrophy induced by elevated intraocular pressure.Glaucoma primarily includes primary open angle glaucoma (POAG), chronic angle-closure glaucoma (CACG) and exfoliation glaucoma (XFG). Recent studies showed that genetic factor and environmental factor participate in the pathogenesis of glaucoma, and the contributions of genetic factor to glaucoma are widely concerned, and some disease-causing gene and their pathogenic mechanisms are sequentially announced.A comprehensive discussion of the advances in molecular genetics of glaucoma is included in this paper.

Humans;Glaucoma/genetics;Mutation;Glaucoma/etiology
Liu Xuyang, Email: mocdef.6ab213121uilx
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引用本文

周晓敏,樊宁,刘旭阳. 青光眼的分子遗传学研究进展[J]. 中华实验眼科杂志,2015,33(3)：263-269.

DOI:10.3760/cma.j.issn.2095-0160.2015.03.016

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青光眼是常见的不可逆性致盲眼病，包含多种类型，其中原发性开角型青光眼(primary open angle glaucoma，POAG)、原发性闭角型青光眼(primary angle-closure glaucoma，PACG)以及剥脱性青光眼(exfoliation glaucoma，XFG)较多见 [ 1 ]。遗传因素在大多数类型青光眼的发病机制中起重要作用，目前国内外关于青光眼的分子遗传研究已引起较多关注，特别是20世纪后期，随着基因组学及后基因组学的迅猛发展，一整套的序列和结构分析工具、注释工具、基因表达分析工具及专门的序列数据库软件的广泛应用，荧光标记核酸自动测序仪的普遍使用、全基因组关联研究(genome-wide association study，GWAS)、全外显子组测序、全基因组测序等新技术得到越来越多的应用，这为青光眼的分子遗传机制研究提供了新的方法学和途径。
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