中文摘要：

目的：为了了解青光眼的可能致病基因,我们对一青光眼大家系致病基因进行了筛查研究。方法：采集外周血和绘制家系图,提取患者全基因组DNA,PCR扩增目的基因MYOC,CYP1B1,OPTN,WDR36的外显子并鉴定,测序后进行数据分析,与数据库中相应参考序列进行比对。通过基于目标区域捕获技术的眼科基因定制芯片对家系样本进行了测序分析,希望能鉴定该家系的致病基因或发现新的致病位点。结果：对该家系进行已知青光眼候选基因MYOC,CYP1B1,WDR36,OPTN测序分析及目标区域捕获技术的眼科基因定制芯片分析,并经家系内其他患者及正常成员测序验证,排除了已知青光眼候选基因突变,仅发现了5个多态性位点。结论：青光眼属多基因遗传疾病,已知致病基因并不能覆盖所有青光眼,推测可能存在某些我们目前尚不知道的青光眼致病基因,本青光眼家系的致病基因有待进一步研究。

英文摘要：

AIM：To study a large glaucoma family by screening the disease- causing genes in order to understand the pathogenesis mechanism of glaucoma.METHODS：The diagnosis of glaucoma family was made by ophthalmological examination;peripheral blood was collected and the pedigree map was drawn.The genome DNA of the patients was extracted.The exons of MYOC,CYP1B1,OPTN,and WDR36 were amplified by PCR and sequenced.The data were analyzed by comparing the corresponding reference sequence in the database.Based on the target gene region capture technology,ophthalmic chip was used for further analysis.We were hoping to identify disease gene of the family or discover the new pathogenic site.RESULTS：Among all exons of MYOC,CYP1B1,OPTN,and WDR36,was no mutation gene identified as the disease causing gene,excluded most known candidate gene mutation of glaucoma and found 5 suspicious sites by the ophthalmic chip.CONCLUSION：Glaucoma is a polygenic disease,the known glaucoma-causing genes may not be involved the pathogenesis of the glaucoma in this family.Further studies are needed to identify the molecular basis of this family with glaucoma.