High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma.
OBJECTIVE
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.
Abu-Amero
Khaled K
KK
Department of Ophthalmology, College of Medicine, King Saud University, Ophthalmic Genetics Laboratory, Riyadh, Saudi Arabia. abuamero@gmail.com
Hellani
Ali
A
Bender
Patrick
P
Spaeth
George L
GL
Myers
Jonathan
J
Katz
L Jay
LJ
Moster
Marlene
M
Bosley
Thomas M
TM
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D055028:Comparative Genomic Hybridization / Q000379:methods*; D004247:DNA / Q000032:analysis* / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged
D004247:DNA
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