原发性开角型青光眼大家系遗传眼病多基因测序结果分析  

Analysis of Multiple Gene Sequencing Results of Primary Open-Angle Glaucoma with Hereditary Ophthalmopathy

作　　者：周瑾[1] 姚磊[1] 刘君 叶龙玲 张毅 陈谨[1] Zhou Jin;Yao Lei;Liu Jun;Ye Longling;Zhang Yi;Chen Jin(Anhui Medical College,Hefei 230601,China;Hefei Mingren Eye Hospital,Hefei 230601,China;Jinyu Medical Inspection Center,Hefei 230601,China)

机构地区：[1]安徽医学高等专科学校,合肥230601 [2]合肥名人眼科医院,合肥230601 [3]金域医学检验中心,合肥230601

出　　处：《大理大学学报》2021年第2期67-71,共5页Journal of Dali University

基　　金：安徽省卫生厅科研基金项目(KJ2017A690);安徽省教育厅高校优秀拔尖人才培育项目(gxgnfx201904)。

摘　　要：目的:筛查中国原发性开角型青光眼(primary open-angle glaucoma,POAG)家系可能致病基因404个。方法:收集合肥名人眼科医院1个POAG家系共9例标本,行眼科相关遗传眼病基因检测。结果:检测到患者和部分成员(患者女儿)有相同的两个杂合突变,即RPGRIP1基因的Leu282Phe杂合突变和OPA1基因的Ser107Leu杂合突变。但只有患者是青光眼,其女儿(9岁)未发病。结论:推测可能存在某些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青光眼。此青光眼家系的致病基因有待长期监测,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 family of primary open-angle glaucoma(POAG)in China.Methods:A total of 9 samples were collected from a POAG family in Hefei Mingren Eye Hospital,and genetic testing for ophthalmologyrelated genetic eye diseases was performed.Results:The patient and some members(patient’s daughter)were found to have the same two heterozygous mutations,namely the Leu282 Phe heterozygous mutation of the RPGRIP1 gene and the Ser107 Leu heterozygous mutation of the OPA1 gene.However,only the patient was with glaucoma,and his daughter(9 years old)did not have the symptoms.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 glaucoma.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：多基因测序 开角型青光眼 突变 

分 类 号：R775[医药卫生—眼科]