摘要
原发性先天性青光眼(primarycongenitalglaucoma,PCG)是儿童致盲的主要疾病之一,其发病机制尚不清楚。遗传因素在PCG的发病中起重要作用。应用分子遗传学方法对PCG的相关基因CYP1B1、MYOC、LTBP2及FOXC1等进行了研究,但尚未发现确切的致病基因。现对PCG的研究技术以及相关基因的筛查作一综述。
Primary congenital glaucoma (PCG) children, but its pathogenesis has remained unclear. is one of the major diseases causing blindness in Genetic factors play an important role in the pathogenesis of PCG. Molecular genetics of candidate genes such as CYPIB1, MYOC, LTBP2 and FOXC1 has so far been explored, but no disease-causing gene has been identified. Molecular genetic research on PCG including candidate gene screening and research strategies are reviewed here.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2016年第2期256-260,共5页
Chinese Journal of Medical Genetics
基金
国家自然科学基金(81470667,81271049)
关键词
原发性先天性青光眼
遗传因素
致病基因
Primary congenital glaucoma
Genetic factor
Disease-causing gene