原发性开角型青光眼（POAG）是青光眼中最常见的一种类型, 常与病理性眼压升高相关，并造成不可逆转的视觉损害。POAG具有明确的遗传倾向，但迄今为止3个已知基因（MYOC,OPTN,WDR36）仅能解释不到10%的患者的发病。GLC1C是一个被多个POAG家系定位、尚未找到致病基因的候选位点，该区域内的基因与POAG的联系仍有待明确和验证。本研究小组在上海南汇地区采集到一个POAG家系,经过前期的连锁分析定位于3p12-q26，覆盖了GLC1C位点；进而又对该家系的核心成员进行了全基因组外显子测序。本课题拟通过整合外显子测序和连锁分析的结果，对该区域内的候选基因进行层层筛选，逐步缩小候选基因的范围，最终确定与该家系表型完全共分离的致病基因及其突变；在此基础上拟用另外23个POAG家系和400例POAG患者对候选基因进行验证，以评价该基因与开角型青光眼的联系，为青光眼诊断和治疗提供新的思路。

Primary open angle glaucoma (POAG) is the most common form of glaucoma, frequently associated with elevated intra ocular pressure (IOP) and causing irreversible vision loss. Glaucoma is a genetically heterogeneous disorder. Only a small proportion of causative genes were known so far. Mutations in the three known POAG genes(MYOC, OPTN and WDR36)account for no more than 10% of all POAG patients. GLC1C was identified as a POAG locus by several families. However, the disease causing gene within that locus has not been found yet. Candidate genes located at that area are waiting to be validated. Our group collected a POAG pedigree at Nanhui area in Shanghai. In the previous studies, we mapped the gene to 3p12-q26（D3S3681-D3S1565）which was overlapped with GLC1C. Furthermore, we did exome sequence on six core members of this family. We plan to analyze the results on the basis of linkage study and exome sequence, narrow down the locus, screen the candidate genes step by step and eventually indentify the gene whose mutation completely segregates with the disease. Moreover, the gene will be validated in additional independent 23 POAG families and 400 sporadic POAG cases, in order to evaluate the contribution of the gene to POAG and provide new clues for diagnosis and treatment of glaucoma.