Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes.

ABSTRACT:

Purpose

Primary open-angle glaucoma is a leading cause of blindness worldwide. We previously identified a region on chromosome 20p12 associated with juvenile-onset primary open-angle glaucoma (JOAG) that was designated GLC1K. The aim of this study is to refine the boundaries of the GLC1K region and to screen selected candidate genes located within the refined region for biologically significant mutations.

Methods

Four JOAG families (44 individuals) with linkage to GLC1K were used for this study. Informative single nucleotide polymorphism (SNP) markers located throughout the previously defined region were used for haplotype analysis. Four candidate genes within the refined region were screened for biologically significant mutations using direct genomic sequencing: bone morpho

SUBMITTER: Sud A 

PROVIDER: S-EPMC2480480 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature