重庆原发性开角型青光眼家系相关致病基因研究

青光眼的病理机制并不十分清楚，普遍认为与遗传有关，对符合孟德尔遗传规律的青光眼家系使用标准的连锁分析进行研究可以定位青光眼致病基因。重庆忠县李氏和黎氏两个青光眼家系，同时被第三军医大学大坪医院和四川省人民医院定位于染色体2p15～p16，与2007年国际上Suriyappemma报告发生在成年人开角型青光眼的GLC1H位点重叠，该位点与开角型青光眼的关系在国内为首次发现。但这两个家系发病年龄早，病情严重。使用单体型分析证实两个家系共有相同的疾病单体型，提示该致病位点来自共同的祖先。李氏家系成员还存在OPTN基因和CYPIB1基因的突变，可能与疾病严重程度有关。

The study of disease-causative gene for primary open angle glaucoma pedigree in Chongqing

The pathogenesis of the primary open angle glaucoma （POAG） has not been understood completely, but the genetic factors been generally considered as an important role in POAG＇s development. Maping the disease-causative gene by linkage analysis at POAG family that consistent with Mendelian feature of autosomal dominant inheritance, two POAG families located in Chongqing Zhongxian county were studied at the same time by the Da-Ping Hospital of the third Military Medical College and Human Molecular Biology and Genetics Laboratory of Sichuan Provincial People＇s Hospital. The disease-causative gene for POAG at two families were mapped to chromosome 2p15-p16 that is overlapped by the Glaucoma 1, openangle, H （GLC1H） locus for adult-onset POAG by Suriyapperuma SP, etc, in 2007. The locus was first found in Chinese, but age of patients were younger and patient＇s conditions more serious. Haplotype analysis in these two families demonstrated that they shared the same disease haplotype, suggesting they have inherited the mutation from a common founder. Even more exists OPTN and CYPIB1 gene mutation at family Li. It was possiblly related to their severity phenotype.