Pa. Robinson et al., YEAST ARTIFICIAL CHROMOSOME CLONING AND CHROMOSOMAL LOCALIZATION OF THE ABUNDANT ODONTOGENIC KERATOCYST PROTEIN ELAFIN, Archives of oral biology, 41(5), 1996, pp. 445-452
An imbalance in human leucocyte elastase (HLE) activity is widely reco
gnized to play an important pathological role in a number of human dis
eases. An earlier report has described greater transcription of elafin
, an endogenous inhibitor of HLE, in epithelia of odontogenic keratocy
sts of the jaw than in normal oral mucosa. The elafin gene was now loc
alized to chromosome 20q11.2-13.1 using a combination of somatic cell-
hybrid panel screening and fluorescence in situ hybridization using a
biotinylated DNA probe prepared from isolated yeast artificial chromos
omes. No other positive fluorescent signals were observed. This elimin
ates the elafin gene as a candidate gene for naevoid basal-cell carcin
oma syndrome, as the gene for this syndrome localizes to chromosome 9q
23.1-31. The elafin yeast artificial chromosome DNA is to be subcloned
to identify polymorphic microsatellite markers that will establish wh
ether this gene is frequently amplified in oral neoplastic tissue. Cop
yright (C) 1996 Elsevier Science Ltd.