title: Loss of heterozygosity in patients with pseudoexfoliation syndrome.
abstract: OBJECTIVE
  The purpose of the study was to evaluate the possible occurrence of loss of heterozygosity (LOH) in the anterior capsule, lens nucleus, iris, and trabeculum samples taken from patients with pseudoexfoliation syndrome (PEX). Loss of heterozygosity in a microsatellite marker locus indicates that the neighboring gene may be inactivated. Previous attempts to find a gene defect that might be responsible for pseudoexfoliation glaucoma have been unsuccessful.
  
  
  METHODS
  Specimens of the anterior capsule, the lens nucleus, the iris, the trabeculum, and reference blood samples were collected from 19 PEX patients. Fluorescent multiplex PCR was used to amplify the microsatellite markers located on chromosomes 2, 4, 7, 12, 18, 19, and 21.
  
  
  RESULTS
  LOH was found in 58% of the iris specimens and 50% of the anterior capsule specimens collected from PEX patients. The highest incidence of LOH was observed at the marker D7S820.
  
  
  CONCLUSIONS
  It is possible, that genetic factors may be involved in the etiology and pathogenesis of PEX.
authors.affiliation: Department of Ophthalmology, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Renata
authors.initials: R
authors.lastname: Zalewska
authors.forename: Witold
authors.initials: W
authors.lastname: Pepinski
authors.forename: Danuta
authors.initials: D
authors.lastname: Smolenska-Janica
authors.forename: Zofia
authors.initials: Z
authors.lastname: Mariak
authors.forename: Ewa
authors.initials: E
authors.lastname: Proniewska-Skretek
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Skawronska
authors.forename: Jerzy
authors.initials: J
authors.lastname: Janica
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002387:Cataract Extraction; D002877:Chromosomes, Human / Q000235:genetics*; D004247:DNA / Q000032:analysis; D017889:Exfoliation Syndrome / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D017353:Gene Deletion; D005901:Glaucoma / Q000601:surgery; D006801:Humans; D007498:Iris / Q000503:physiopathology; D007903:Lens Capsule, Crystalline / Q000503:physiopathology; D007907:Lens Nucleus, Crystalline / Q000503:physiopathology; D019656:Loss of Heterozygosity / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D014129:Trabecular Meshwork / Q000503:physiopathology; D014130:Trabeculectomy
chemical_list: D004247:DNA