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

In English

Författare

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.

Publiceringsår

1994

Språk

Engelska

Sidor

1536-1538

Publikation/Tidskrift/Serie

The Lancet

Volym

343

Issue

8912

Dokumenttyp

Artikel i tidskrift

Förlag

Elsevier

Ämne

  • Medicinal Chemistry

Nyckelord

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

Status

Published

Forskningsgrupp

  • Family Medicine and Clinical Epidemiology
  • Clinical Chemistry, Malmö

ISBN/ISSN/Övrigt

  • ISSN: 1474-547X