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

Zöller, Bengt LU and Dahlbäck, Björn LU (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.
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author
organization
publishing date
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
1536 - 1538
publisher
Elsevier
external identifiers
  • Scopus:0028291210
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
http://www.sciencedirect.com/science/article/pii/S0140673694929408
date added to LUP
2013-05-14 15:58:07
date last changed
2016-04-16 12:08:35
@misc{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},
  keyword      = {gentic linkage,factor V,point mutation,protein S deficiency,venous thromboembolism},
  language     = {eng},
  number       = {8912},
  pages        = {1536--1538},
  publisher    = {ARRAY(0xc0e9fb8)},
  series       = {The Lancet},
  title        = {Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis},
  volume       = {343},
  year         = {1994},
}