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KMID : 0311120010420030364
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Yonsei Medical Journal
2001 Volume.42 No. 3 p.364 ~ p.366
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A Novel Silent Substitution (C8516T) in Exon 9 of the Human PROC Gene
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Kyung Soon Song
Hyun Kyung Kim/Jae Woo Song/Jong Rak Choi/Young Sook Park
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Abstract
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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.
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KEYWORD
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Protein C deficiency, silent mutation, PROC gene, thrombosis,
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