title: High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma.
abstract: 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.
authors.affiliation: Department of Ophthalmology, College of Medicine, King Saud University, Ophthalmic Genetics Laboratory, Riyadh, Saudi Arabia. abuamero@gmail.com
authors.forename: Khaled K
authors.initials: KK
authors.lastname: Abu-Amero
authors.forename: Ali
authors.initials: A
authors.lastname: Hellani
authors.forename: Patrick
authors.initials: P
authors.lastname: Bender
authors.forename: George L
authors.initials: GL
authors.lastname: Spaeth
authors.forename: Jonathan
authors.initials: J
authors.lastname: Myers
authors.forename: L Jay
authors.initials: LJ
authors.lastname: Katz
authors.forename: Marlene
authors.initials: M
authors.lastname: Moster
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Bosley
mesh_terms: 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
chemical_list: D004247:DNA
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