Abstract
Resistance to activated protein C (APC) is a major cause of familial thrombophilia, and can be corrected by an anticoagulant activity expressed by purified factor V. We investigated linkage between APC resistance and the factor V gene in a large kindred with familial thrombophilia. Restriction fragment length polymorphisms in exon 13 of the factor V gene were informative in 14 family members. The 100% linkage between factor V gene polymorphism and APC resistance strongly suggested a factor V gene mutation as a cause of APC resistance. A point mutation changing Arg506 in the APC cleavage site to a Gln was found in APC resistant individuals. These results suggest factor V gene mutation to be the most common genetic cause of thrombophilia.
Original language | English |
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Pages (from-to) | 1536-1538 |
Number of pages | 3 |
Journal | The Lancet |
Volume | 343 |
Issue number | 8912 |
Publication status | Published - 1994 |
Subject classification (UKÄ)
- Medicinal Chemistry
Free keywords
- gentic linkage
- factor V
- point mutation
- protein S deficiency
- venous thromboembolism