WDR36 Gene Alterations and Glaucoma

摘要

Disclosed herein is the mapping of a new adult-onset primary open-angle glaucoma (POAG) locus on 5q22.1 (GLC1G) and identification of its defective gene. Mutation screening of 7 candidate genes from the GLC1G critical region identified the WDR36 (WD40-Repeat 36) gene. Methods of detection, prognosis and diagnosis of the presence or absence of glaucoma or of an increased risk of glaucoma are described, in which a sample is tested for the presence of glaucoma-causing alterations or glaucoma-susceptibility alteration in the GLC1G locus on chromosome band 5q22.1, such as in the WDR36 gene.