Investigation for the genetic factor of glaucoma in another viewpoint: an analysis of possible involvement of copy number variation (CNV) in genome

为检测原发性开角型青光眼（primary open-angle glaucoma，POAG）发病的基因组拷贝数变异（genomic copy number variation，CNV），对34个POAG家系的44名成员进行了基因芯片检测。在所发现的1195个CNV位点中，有8个（6个缺失位点和2个重复位点）是新的或非常罕见的，被认为是改变基因剂量的。缺失位点有7个基因，重复位点有5个基因。这12个基因可能通过基因拷贝数的异常增加或减少引起POAG。

To detect the genomic copy number variation(s) (CNV) which affect the onset of primary open-angle glaucoma (POAG), 44 members from 34 families with the disease were subjected to the microarray assay. Of 1195 CNV loci found, 8 (6 sites of deletion and 2 of duplication) of patients-specific ones were novel or very rare and considered to change the dosage of gene. Deletion loci contained 7 genes and duplication ones 5 genes. These 12 genes possibly cause POAG by the abnormal increase or decrease of gene copy number.