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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Suriyapperuma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CYP1B1基因的突变,可能与疾病严重程度有关。
The pathological mechanism of glaucoma is not very clear, generally considered genetic and glaucoma pathogenic genes can be mapped using a standard linkage analysis of glaucoma pedigrees consistent with Mendelian inheritance. Chongqing Zhongxian Lee and Li’s two glaucoma pedigrees, while the Third Military Medical University Daping Hospital and Sichuan Provincial People’s Hospital located on chromosome 2p15 ~ p16, with the international Suriyapperuma 2007 reported in adults with open-angle glaucoma GLC1H Site overlap, the location of the relationship with open angle glaucoma was first discovered in China. However, the two families were at an early age and were in serious condition. Haplotype analysis confirmed that both families share the same disease haplotype, suggesting that the disease site is from a common ancestor. Members of the Lee family there are still OPTN gene and CYP1B1 gene mutations, may be related to the severity of the disease.