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[Molecular biological analysis of hereditary thrombophilia--genetic characterization of protein S deficiency].
- Source :
-
[Rinsho ketsueki] The Japanese journal of clinical hematology [Rinsho Ketsueki] 1995 Apr; Vol. 36 (4), pp. 299-302. - Publication Year :
- 1995
-
Abstract
- Protein S is a plasma glycoprotein, which functions as a cofactor for activated protein C in the protein C pathway and also directly inhibits factors Va and Xa, independently of protein C. In plasma, protein S circulates as a free molecule (40%) or in a complex with C4b-binding protein (60%). Only a free protein S acts as an anticoagulant and its activity is lost by binding to C4b-binding protein. The physiological importance of protein S has been established by observations in patients with hereditary protein S deficiency who have an increased risk of developing thrombosis. Several previous studies reported that hereditary protein S deficiency was as common as protein C deficiency and that approximately 5% of hereditary thrombophilia was caused by protein S deficiency. But molecular biological analysis of protein S deficiency is not as advanced as protein C deficiency because the genetic characterization of protein S deficiency is limited by the presence of the inactive pseudogene that is highly homologous to the active true gene. Only a few previous studies have examined the genetic features of hereditary protein S deficiency. Further investigation is needed to characterize the pathophysiology and molecular basis of hereditary protein S deficiency.
Details
- Language :
- Japanese
- ISSN :
- 0485-1439
- Volume :
- 36
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- [Rinsho ketsueki] The Japanese journal of clinical hematology
- Publication Type :
- Academic Journal
- Accession number :
- 7783333