原发性开角型青光眼致病基因的筛查  

Screening of pathogenic genes for primary open-angle glaucoma

作　　者：周瑾[1] 陈谨[1] 姚磊[1] 季丹[1] 蒋正轩[2] 刘君 叶龙玲 黄菊芳[4] 张毅 ZHOU Jin;CHEN Jin;YAO Lei(Anhui Medical College,Hefei 230601,Anhui)

机构地区：[1]安徽医学高等专科学校,安徽合肥230601 [2]安徽医科大学第二附属医院,安徽合肥230601 [3]合肥名人眼科医院,安徽合肥230001 [4]中南大学湘雅医学院生命科学院,湖南长沙410013 [5]金域医学检验中心,安徽合肥230001

出　　处：《安徽卫生职业技术学院学报》2020年第1期89-91,共3页Journal of Anhui Health Vocational & Technical College

基　　金：安徽省卫生厅重点项目(编号:KJ2017A690);2019年度高校学科(专业)拔尖人才学术资助项目(编号:gxgnfx2019104)

摘　　要：目的:筛查17例中国人群原发性开角型青光眼患者(POAG)404个眼科相关的致病基因。方法:收集2018年-2019年合肥名人眼科医院和安徽医科大学第二附属医院17例POAG患者标本,行眼科相关遗传眼病基因检测。结果:17例POAG患者中有12例检测到6个眼科候选基因位点的突变:BCOR基因Ser1668Cys杂合突变,CYP1B1基因Leu107Val杂合突变,HSF4基因Ser452fs杂合突变,RPGRIP1基因Leu282Phe杂合突变,OPA1基因Ser107Leu杂合突变,EYA1基因Gly224Val杂合突变,均为杂合突变。结论:推测这些杂合突变可能导致临床原发性开角型青光眼的发生,同时存在某些我们目前尚不知道的青光眼致病基因,或已知眼病相关致病基因并不能覆盖所有POAG患者。这有待长期检测,以期为基因治疗青光眼的进一步研究提供参考。Objective:To screen 404 possible pathogenic genes in a 17 patients with Primary open-angle glaucoma(POAG)in China.Methods:Samples of 17 POAG patients from Hefei Celebrity Ophthalmic hospital and Anhui Medical University Second Affiliated Hospital were1 collected for genetic testing of ophthalmology-related eye diseases.Results:Among of Seventeen POAG patients tested,12 of them have 6 ophthalmology-related gene loci mutations,such as Ser1668Cys heterozygous mutation of the BCOR,Leu107Val heterozygous mutation of the CYP1B1,Ser452fs heterozygous mutation of the HSF4,Leu282Phe heterozygous mutation of the RPGRIP1,Ser107Leu heterozygous mutation of the OPA1 and Gly224Val heterozygous mutation of the EYA1,respectively.Conclusion:It is speculated that there may be some glaucoma pathogenic genes that we do not know yet.It is known that ophthalmology-related pathogenic genes do not cover all glaucomas.The genetic monitoring of this glaucoma family is to be further studied in order to provide reference for further research on gene therapy for glaucoma.

关 键 词：原发性开角型青光眼 致病基因突变 多基因测序 

分 类 号：R775[医药卫生—眼科]