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

ABSTRACT

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 2p1S-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 fiom a common founder.Even more exists OPTN and CYP1B1 gene mutation at family Li.It was possiblly related to their severity phenotype.