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NR 1-2/2004
SUPLEMENT
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Utrata
heterozygotyczności w markerze mikrosatelitarnym zlokalizowanym
w pobliżu genu metaloproteinazy u chorych z zespołem
pseudoeksfoliacji
Loss of heterozygosity at
microsatellite marker localised near the metalloproteinase gene
in patients with PEX syndrome
Renata Zalewska1, Zofia Mariak1,
Witold Pepiński2, Małgorzata Wojnar1, Ewa
Proniewska-Skrętek1, Małgorzata Skawrońska2,
Jerzy Janica2
1Z Kliniki Okulistyki Akademii Medycznej w
Białymstoku
Kierownik: dr hab. n. med. Zofia Mariak
2Z Zakładu Medycyny Sądowej Akademii Medycznej w
Białymstoku
Kierownik: prof. dr hab. n. med. Jerzy Janica |
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| Summary: |
Purpose: The aim of
the study was to evaluate the possible occurence 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).
Material and methods: 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 occurence of LOH at microsatellite marker
D7S820 with fluorescent multiplex PCR method.
Results: LOH was displayed in 44% specimens of
anterior capsule, 33% of iris specimen. In lens nucleus
and trabeculum specimen LOH did not occure.
Conclusions: The high frequency of LOH in PEX
patients at locus D7S820 suggests that genetic factors
may be involved in the ethiology and pathogenesis of PEX. |
| Słowa kluczowe: |
zespół pseudoeksfoliacji (PEX),
utrata heterozygotyczności (LOH), metaloproteinazy. |
| Key words: |
pseudoexfoliation syndrome,
loss of heterozygosity (LOH), metalloproteinases. |
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