Elsevier

The Lancet

Volume 343, Issue 8912, 18 June 1994, Pages 1536-1538
The Lancet

Short reports
Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis

https://doi.org/10.1016/S0140-6736(94)92940-8Get rights and content

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.

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