| Autor: |
F. H. Herrmann, B. Maak, P. Heuchel, L. Kochhan |
| Rok vydání: |
2008 |
| Předmět: |
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| Zdroj: |
37th Hemophilia Symposium ISBN: 9783540735342 |
| DOI: |
10.1007/978-3-540-73535-9_40 |
| Popis: |
Resistance to activated protein C (APC resistance) was identified as the cause of familial thrombophilia by Dahlback et al. in 1993 [4]. Only one year later the underlying genetic defect of the APC resistance has been demonstrated by Bertina and colleagues [1]. APC resistance is the result of the point mutation G 1691 A within exon 10 of the factor V gene. This mutation was named as factor V mutation “Leiden” and results in an exchange of the amino acid arginine (R) to glutamine (Q) at position 506 of the factor V protein. The altered factor V molecule is resistant to cleavage by activated protein C. As a consequence, factor V acts as a procoagulant and a thrombotic tendency results. Homozygosity for the 1691 A allele carries a markedly increased risk (80–100 fold) for venous thromboembolism and in the heterozygous state the risk is 7–10 fold greater than in normal subjects. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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