Positional mapping and molecular cloning of an adult-onset primary open angle glaucoma (POAG) gene

TL;DRAbstract

Glaucoma is a leading cause of blindness in virtually every country. This disease is usually asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Therefore, development of an accurate diagnostic test for presymptomatic detection of at risk individuals is an urgent requisition. The mapping, cloning and identification of novel mutations involved in the etiology of glaucoma would provide a significant opportunity for presymptomatic diagnosis, improved prognosis, and better understanding of the etiology of this blinding condition. During the course of this study, and by virtue of genetic linkage study, a new POAG locus (designated as GLC1G) was identified on 5q22.1. Mutation screening of 7 candidate genes from the GLC1G critical region (∼2-Mb between D5S1466 and D5S2051) revealed only one significant alteration in the WDR36 (WD40-Repeat 36) gene. Further screening of this gene in a total of 130 POAG families revealed 24

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