一原发性开角型青光眼家系相关致病基因的筛查  

Screening of pathogenic genes in a pedigree with primary open-angle glaucoma

作　　者：陈迪 吴越 徐瓅 彭程[1] 李琳 郭文毅[1] Chen Di;Wu Yue;Xu Li;Peng Cheng;Li Lin;Guo Wenyi(Department of Ophthalmology,The Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology,Shanghai 210011,China)

机构地区：[1]上海交通大学医学院附属第九人民医院眼科上海市眼眶病眼肿瘤重点实验室

出　　处：《临床眼科杂志》2019年第4期289-293,共5页Journal of Clinical Ophthalmology

基　　金：国家自然科学基金面上项目(81670845);上海市重点实验室资助(资助号:17DZ2260100)

摘　　要：目的探索一原发性开角型青光眼(POAG)家系的遗传学致病机制。方法按照POAG诊断标准对该家系所有成员进行患病状况调查和家系图绘制。抽取家系成员外周静脉血,提取基因组DNA,并对DNA样本进行全外显子测序和Sanger测序。结果通过筛查发现,GNAT1基因c.G819T.p.K273N突变在POAG家系6例患者中,5例发生突变;8例正常人中,7例未发生突变。结论GNAT1基因c.G819T.p.K273N突变与POAG家系青光眼患病相关性较高,可能为POAG的潜在致病基因。Objective Investigate the genetic pathogenesis in a pedigree with primary open-angle glaucoma(POAG).Methods All members of the family were investigated, and the pedigree chart was drawn according to the diagnostic criteria of POAG. In order to screen out potential pathogenic genes associated with POAG, peripheral venous blood were collected from all family members, DNA were extracted and sent for whole exome sequencing and Sanger sequencing. Results We found that c.G819 T. p.K273 N mutation of the GNAT1 gene was present in 5 of 6 POAG patients, but not in 7 of 8 normal controls. Conclusions The c.G819 T.p.K273 N mutation of the GNAT1 gene is associated with the presence of glaucoma in this POAG pedigree, thus it may be a potential pathogenic gene of POAG.

关 键 词：原发性开角型青光眼 基因突变 

分 类 号：R775[医药卫生—眼科]