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. 2009 Aug 15:15:1594-8.

High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma

Khaled K Abu-Amero  1 , Ali Hellani, Patrick Bender, George L Spaeth, Jonathan Myers, L Jay Katz, Marlene Moster, Thomas M Bosley
Affiliations

High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma

Khaled K Abu-Amero et al. Mol Vis. .

Abstract

Purpose: To determine whether patients with isolated primary open-angle glaucoma (POAG) have evidence of chromosomal copy number alterations.

Methods: Twenty-seven Caucasian and African-American POAG patients and 12 ethnically matched controls were carefully screened for possible glaucoma and tested for chromosomal copy number alterations using high resolution array comparative genomic hybridization.

Results: No POAG patient had evidence of chromosomal copy number alterations when compared to normal ethnically matched controls. Additionally, there was no evidence of somatic mosaicism in any tested POAG patient.

Conclusions: Chromosomal deletions and/or duplications were not detected in POAG patients as compared to controls. Other chromosomal imbalances such as translocations, inversions, and some ploidies cannot be detected by current array comparative genomic hybridization technology, and other nuclear genetic, mitochondrial abnormalities, or epigenetic factors cannot be excluded as a possible contributing factor to POAG pathogenesis.

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Figures

Figure 1
Figure 1
Array CGH result for internal control. As an internal quality control for the array CGH procedure, control DNA was hybridized against POAG DNA of the opposite sex (ratio of +1 with regard to chromosome X for XX POAG and XY control).
Figure 2
Figure 2
Array CGH results for POAG patients versus controls. Chromosomes shown were chosen randomly as representative of all chromosomes and in all POAG patients tested. In the image, A indicates Chromosome 1; B indicates Chromosome 13; C indicates Chromosome 15; and D indicates Chromosome 18. When control DNA was hybridized against POAG DNA, a signal ratio of zero (0) was obtained, indicating the absence of chromosomal copy number alterations.
See this image and copyright information in PMC

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