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Prevalence of a 23bp endothelial protein C receptor gene insertion in the Irish population



Prevalence of a 23bp endothelial protein C receptor gene insertion in the Irish population



Blood 98(11 Part 2): 81b, November 16



The clinical importance of the protein C pathway is illustrated by the array of associated dysfunctions that result in thrombosis. The endothelial cell protein C receptor (EPCR) is a significant component of this pathway and functions as an anticoagulant factor by positively influencing the rate of protein C activation. A 23bp insertion in exon 3 of the EPCR gene has previously been detected by double gradient DGGE in an Italian population. The insertion duplicates the 23 bases preceding the insertion point and is a possible risk factor for thrombosis. In order to investigate whether this insertion is associated with thrombosis in the Irish population, 251 venous thrombosis, 111 stroke and 27 pulmonary embolism patient DNA samples were screened for carriership. 262 individuals with a negative personal and family history of thrombosis were used as a control group for the study. Screening was carried out by PCR amplification of exon 3 of the EPCR gene, followed by gel electrophoresis and PCR fragment size determination. A patient DNA sample carrying the insertion was used as a positive control. The insertion was not detected in any of the samples screened. Thus it can be concluded that this 23bp EPCR insertion is not present at a significant level in the Irish population and as yet, is not a proven risk factor for thrombosis.

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Accession: 035548130

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