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Activated protein C resistance caused by a common factor V mutation has a single origin

Zöller, Bengt LU ; Hillarp, Andreas LU and Dahlbäck, Björn LU (1997) In Thrombosis Research 85(3). p.43-237
Abstract

A point mutation (FV:R506Q) in the human coagulation factor V gene is associated with resistance to activated protein C and life-long increased risk of venous thrombosis. The mutation is common in populations of Caucasian origin but virtually absent among other populations. In this study of 140 healthy Swedish volunteers and 110 homozygotes for the FV:R506Q mutation, we determined the allele frequencies of the FV:R506Q mutation and four other dimorphisms, C/T at nucleotide positions 2298 and 2325, and A/G at nucleotide positions 2379 and 2391. Manifest linkage disequilibrium was found between the FV:R506Q mutation and the four different dimorphisms. The finding of a single FV:R506Q haplotype in all homozygotes constitutes strong... (More)

A point mutation (FV:R506Q) in the human coagulation factor V gene is associated with resistance to activated protein C and life-long increased risk of venous thrombosis. The mutation is common in populations of Caucasian origin but virtually absent among other populations. In this study of 140 healthy Swedish volunteers and 110 homozygotes for the FV:R506Q mutation, we determined the allele frequencies of the FV:R506Q mutation and four other dimorphisms, C/T at nucleotide positions 2298 and 2325, and A/G at nucleotide positions 2379 and 2391. Manifest linkage disequilibrium was found between the FV:R506Q mutation and the four different dimorphisms. The finding of a single FV:R506Q haplotype in all homozygotes constitutes strong evidence of a common ancestor of Swedish individuals with the FV:R506Q mutation.

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organization
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published
subject
keywords
Adult, Aged, Base Sequence, Exons, Factor V, Female, Genotype, Humans, Male, Middle Aged, Molecular Sequence Data, Point Mutation, Protein C, Restriction Mapping, Sweden, Journal Article, Research Support, Non-U.S. Gov't
in
Thrombosis Research
volume
85
issue
3
pages
7 pages
publisher
Elsevier Ltd
external identifiers
  • scopus:0031079750
ISSN
0049-3848
language
English
LU publication?
yes
id
446b042e-da24-4f43-9e47-ce3ba0712491
date added to LUP
2017-10-19 16:27:00
date last changed
2017-11-29 12:01:00
@article{446b042e-da24-4f43-9e47-ce3ba0712491,
  abstract     = {<p>A point mutation (FV:R506Q) in the human coagulation factor V gene is associated with resistance to activated protein C and life-long increased risk of venous thrombosis. The mutation is common in populations of Caucasian origin but virtually absent among other populations. In this study of 140 healthy Swedish volunteers and 110 homozygotes for the FV:R506Q mutation, we determined the allele frequencies of the FV:R506Q mutation and four other dimorphisms, C/T at nucleotide positions 2298 and 2325, and A/G at nucleotide positions 2379 and 2391. Manifest linkage disequilibrium was found between the FV:R506Q mutation and the four different dimorphisms. The finding of a single FV:R506Q haplotype in all homozygotes constitutes strong evidence of a common ancestor of Swedish individuals with the FV:R506Q mutation.</p>},
  author       = {Zöller, Bengt and Hillarp, Andreas and Dahlbäck, Björn},
  issn         = {0049-3848},
  keyword      = {Adult,Aged,Base Sequence,Exons,Factor V,Female,Genotype,Humans,Male,Middle Aged,Molecular Sequence Data,Point Mutation,Protein C,Restriction Mapping,Sweden,Journal Article,Research Support, Non-U.S. Gov't},
  language     = {eng},
  month        = {02},
  number       = {3},
  pages        = {43--237},
  publisher    = {Elsevier Ltd},
  series       = {Thrombosis Research},
  title        = {Activated protein C resistance caused by a common factor V mutation has a single origin},
  volume       = {85},
  year         = {1997},
}