Loss of heterozygosity at microsatellite marker localised near the metalloproteinase gene in patients with PEX syndrome
Zalewska, R.; Mariak, Z.; Pepiński, W.; Wojnar, M.łg.; Proniewska-Skretek, E.; Skawrońska, M.łg.; Janica, J.
Klinika Oczna 106(1-2(Suppl): 153-154
2004
ISSN/ISBN: 0023-2157 PMID: 15510480 Document Number: 567134
The aim of the study was to evaluate the possible occurrence of loss of heterozygosity (LOH) at microsatellite marker localised near the area for metalloproteinase gene in the anterior capsule, lens nucleus, iris and trabeculum samples taken from patients with pseudoexfoliation syndrome (PEX). In our study we examined 19 patients (12 women and 7 men) with PEX syndrome who underwent surgical treatment for glaucoma, cataract or both at the same time. The mean age was 75.5 +/- 4.7, range 64-86. Specimens of the iris, anterior capsule, trabeculum and lens nucleus were taken to evaluate the possible occurrence of LOH at microsatellite marker D7S820 with fluorescent multiplex PCR method. LOH was displayed in 44% specimens of anterior capsule, 33% of iris specimen. In lens nucleus and trabeculum specimen LOH did not occur. The high frequency of LOH in PEX patients at locus D7S820 suggests that genetic factors may be involved in the etiology and pathogenesis of PEX.