Yonsei Med J.  2001 Jun;42(3):364-366. 10.3349/ymj.2001.42.3.364.

A Novel Silent Substitution (C8516T) in Exon 9 of the Human PROC Gene

• Song KS
• Kim HK
• Song JW
• Choi JR
• Park YS

• KMID: 720637
• DOI: http://doi.org/10.3349/ymj.2001.42.3.364

Abstract

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.

Keyword

Protein C deficiency; silent mutation; PROC gene; thrombosis

MeSH Terms

Case Report
*Exons
Human
Male
Middle Age
*Mutation
Protein C/*genetics
Thrombosis/*genetics