A novel silent substitution (C8516T) in exon 9 of the human PROC gene.

Protein C is a vitamin K dependent serine protease zymogen, which has a regulatory influence over the coagulation cascade via the inhibition of factors Va and VIIIa. Hereditary protein C deficiency is associated with an increased risk of thromboembolic disease. A multitude of families displaying protein C (PROC) gene defects have been reported, and a number of DNA sequence polymorphisms are known to occur in the PROC gene. We have identified a previously undescribed silent substitution (C8516T) by direct DNA sequencing in a Korean patient with thrombosis and protein C deficiency. In addition, a rare T allelic frequency (0.016) was determined in 123 patients with acquired or hereditary protein C deficiency.