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.
Song
K S
KS
Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea. kssong@yumc.yonsei.ac.kr
Kim
H K
HK
Song
J W
JW
Choi
J R
JR
Park
Y S
YS
D005091:Exons; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011486:Protein C / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics*
D011486:Protein C