Variations in the WDR36 gene in German patients with normal tension glaucoma.

ABSTRACT:

Purpose

To determine the prevalence of WDR36 sequence variants in a cohort of German patients with normal tension glaucoma.

Methods

All of the 23 coding exons and flanking introns of the WDR36 gene were amplified by PCR from genomic DNA and subjected to denaturing high performance liquid chromatography. Samples with aberrant profiles were sequenced. In addition, restriction fragment length polymorphism analysis was performed in order to identify previously described nucleotide changes.

Results

This study identified 11 nucleotide changes in the WDR36 gene that lead to predicted amino acid substitutions. Previously reported disease-causing mutations were found in 4% of patients (4/112) whereas sequence variants previously classified as disease-susceptibility mutations w

SUBMITTER: Weisschuh N 

PROVIDER: S-EPMC2765470 | biostudies-literature | 2007 May

REPOSITORIES: biostudies-literature