Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis
(1994) In The Lancet 343(8912). p.1536-1538- 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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1894775
- author
- Zöller, Bengt LU and Dahlbäck, Björn LU
- organization
- publishing date
- 1994
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- gentic linkage, factor V, point mutation, protein S deficiency, venous thromboembolism
- in
- The Lancet
- volume
- 343
- issue
- 8912
- pages
- 3 pages
- publisher
- Elsevier
- external identifiers
-
- scopus:0028291210
- pmid:7911873
- ISSN
- 1474-547X
- language
- English
- LU publication?
- yes
- id
- c33ca7f8-9858-4cde-a6a7-3f927ab55a53 (old id 1894775)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/7911873
- date added to LUP
- 2016-04-04 14:08:11
- date last changed
- 2021-10-03 04:48:38
@article{c33ca7f8-9858-4cde-a6a7-3f927ab55a53, 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.}}, author = {{Zöller, Bengt and Dahlbäck, Björn}}, issn = {{1474-547X}}, keywords = {{gentic linkage; factor V; point mutation; protein S deficiency; venous thromboembolism}}, language = {{eng}}, number = {{8912}}, pages = {{1536--1538}}, publisher = {{Elsevier}}, series = {{The Lancet}}, title = {{Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis}}, url = {{http://www.ncbi.nlm.nih.gov/pubmed/7911873}}, volume = {{343}}, year = {{1994}}, }