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

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Author

Summary, in English

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.

Publishing year

1994

Language

English

Pages

1536-1538

Publication/Series

The Lancet

Volume

343

Issue

8912

Document type

Journal article

Publisher

Elsevier

Topic

  • Medicinal Chemistry

Keywords

  • gentic linkage
  • factor V
  • point mutation
  • protein S deficiency
  • venous thromboembolism

Status

Published

Research group

  • Family Medicine and Clinical Epidemiology
  • Clinical Chemistry, Malmö

ISBN/ISSN/Other

  • ISSN: 1474-547X