A Novel Silent Substitution (C8516T) in Exon 9 of the Human PROC Gene.
10.3349/ymj.2001.42.3.364
- Author:
Kyung Soon SONG
1
;
Hyun Kyung KIM
;
Jae Woo SONG
;
Jong Rak CHOI
;
Young Sook PARK
Author Information
1. Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea. kssong@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Protein C deficiency;
silent mutation;
PROC gene;
thrombosis
- MeSH:
Case Report;
*Exons;
Human;
Male;
Middle Age;
*Mutation;
Protein C/*genetics;
Thrombosis/*genetics
- From:Yonsei Medical Journal
2001;42(3):364-366
- CountryRepublic of Korea
- Language:English
-
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.
