Microsatellite instability and loss of heterozygosity in human pterygia
a University Hospital, Medical School,
University of Crete, Heraklion, Crete,
Greece Department of Virology, b Department of
Ophthalmology
Correspondence to: Professor D A Spandidos, Medical School, University of Crete, Heraklion 71409, Crete, Greece.
Accepted for publication 10 March 1997
AIMS/BACKGROUND
Pterygium is a common benign
lesion of the corneo-conjunctival limbus. Although environmental
factors, such as ultraviolet irradiation, have been suggested as the
main causative factor in the development of the disease, however, the
aetiopathology of pterygium remains obscure. In this study the
possibility of detecting genetic alterations in the microsatellite DNA
of the pterygium was investigated.
METHODS
Fifteen specimens were assessed for loss
of heterozygosity (LOH) and microsatellite instability (MI) by seven
microsatellite markers on four chromosomal arms.
RESULTS
Nine (60%) pterygia exhibited genetic
alterations. Eight specimens (53%) exhibited LOH, while two specimens
(13%) MI in at least one marker. 17q11.2-q21 is a commonly deleted
region, as the frequency of LOH at this region is significantly high
(47%).
CONCLUSION
This finding indicates the existence of
tumour suppressor genes in this region implicated in the disease
without excluding the presence of other tumour suppressor genes in the
other chromosomal regions that were examined. MI was apparent in only a
few specimens but it is indeed a detectable phenomenon, suggesting that
decreased fidelity in DNA replication and repair may be associated with the development of pterygium. Detection of LOH and MI, two events taking place in tumour cells or in premalignant cells, constitutes strong evidence that there must be transformed cells in the pterygial tissue and it should be considered to be a neoplastic benign lesion.
© 1997 by British Journal of Ophthalmology
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