新疆维吾尔族、哈萨克族人群原发性青光眼的致病基因和临床表型的关联研究

Glaucoma is polygenic disease that lead to optic nerve damage, which is considered to be the world's second blinding disease. The prevalence Of glaucoma in China is 0.68% . And the incidence can vary from countries to regions and races. Xinjiang is a multi-ethnic colony land . According to statistic data,the prevalence of PACG in POAG is 1.55%, 0.40% in Xinjiang , respectively. Among Disease-causing genes , MYOC, OPTN, WDR36 has been identified as the pathogenic gene of primary open-angle glaucoma. But less reports for angle closure glaucoma. For the first time, the project try to screen pathogenic genes : MYOC and the OPTN, WDR36 and susceptible gene : CALCRL，OPA1 within normal person and patients in the Xinjiang minorities. We use linkage analysis to investigate the associations between Genomic DNA phenotype and polymorphism with clinical phenotypes . We try to elucidate the correlation between variants, SNPs and primary glaucoma in two population. So far, there is no data on this. Finally, we hope to provide the evidences to prevent and treat blindness in Xinjiang ethnic minority areas.

青光眼是一种引起视神经损害的多基因遗传性疾病，被认为是世界第二大致盲眼病。不同类型青光眼发病率因国家和地区、种族的不同而有显著的差异。新疆地区原发性开角型青光眼（POAG）和原发性闭角型青光眼（PACG）患病率分别占0.40%、1.55%。随着基因遗传学的发展MYOC,OPTN，WDR36基因已被确认为原发性开角型青光眼的致病基因。而有关原发性闭角型青光眼的分子遗传学方面的研究甚少。本课题拟在新疆地区选择原发性青光眼的致病基因MYOC,OPTN，WDR36以及易感基因CALCRL，OPA1对两民族人群进行系统筛查，利用连锁分析等方法对上述基因组中DNA表型及DNA多态性与临床表型之间相关联性进行分析研究，探讨这些基因突变、SNPs及其构成的单体型与两民族原发性青光眼发病的相关性，为补充阐明青光眼的发病机制提供可能的科学依据。填补新疆地区原发性青光眼分子遗传学方面的空白。