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 reg ulatory influence over the coagulation cascade via the inhibition of factor s Va and Vma. Hereditary protein C deficiency is associated with an increas ed risk of thromboembolic disease. A multitude of families displaying prote in C (PROC) gene defects have been reported and a number of DNA sequence po lymorphisms are known to occur in the PROC gene. Pie have identified a prev iously undescribed silent substitution (C8516T) by direct DNA. sequencing i n a Korean patient with thrombosis and protein C deficiency. In addition, a rare T allelic frequency (0.016) was determined in 123 patients with acqui red or hereditary protein C deficiency.