A genome-wide scan maps a novel autosomal dominant juvenile-onset open-angle glaucoma locus to 2p15-16.

ABSTRACT:

Purpose

To study the clinical features and to perform genetic linkage study in two large Chinese families with autosomal dominant juvenile-onset primary open-angle glaucoma (POAG).

Methods

Eighteen members of one Chinese family and 25 members of a second Chinese family with juvenile-onset primary open-angle glaucoma (POAG) were investigated. Thirteen members in one family and 14 members in the second family were diagnosed with juvenile-onset POAG. A genome-wide linkage scan was performed on one family using 411 short tandem repeat (STR) markers. Subsequent fine mapping was performed in the two study families using a modified fluorescent labeled M13 primer method.

Results

A whole genome-wide scan in one family showed linkage to chromosome 2p15-p16 with a two-point maxi

SUBMITTER: Lin Y 

PROVIDER: S-EPMC2324117 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature