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

Authors

Khaled K Abu-Amero, King Saud University, Riyadh, Saudi ArabiaFollow
Ali Hellani, PGD Laboratory, Saad Specialist Hospital, Al-Khobar, Saudi ArabiaFollow
Patrick Bender, National Institutes of Mental Health, Rochville, MD
George L. Spaeth, Wills Eye Institute/Jefferson Medical CollegeFollow
Jonathan Myers, Wills Eye Hospital, Thomas Jefferson UniversityFollow
L Jay Katz, Wills Eye Hospital, Thomas Jefferson UniversityFollow
Marlene Moster, Wills Eye Hospital, Thomas Jefferson UniversityFollow
Thomas M Bosley, Cooper University Hospital, Camden, NJ

Document Type

Article

Publication Date

1-1-2009

Comments

This article has been peer reviewed. It was published in: Molecular vision

2009 Aug 15;15:1594-8.

The published version is available at PMID: 196932941. Copyright © Molecular Vision

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.

Recommended Citation

Abu-Amero, Khaled K; Hellani, Ali; Bender, Patrick; Spaeth, George L.; Myers, Jonathan; Katz, L Jay; Moster, Marlene; and Bosley, Thomas M, "High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma." (2009). Wills Eye Hospital Papers. Paper 27.
https://jdc.jefferson.edu/willsfp/27

PubMed ID

19693294