Skip to main content

Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.

Publication ,  Journal Article
Zöller, B; Svensson, PJ; He, X; Dahlbäck, B
Published in: J Clin Invest
December 1994

Resistance to activated protein C (APC) is the most prevalent inherited cause of venous thrombosis. The APC resistance phenotype is associated with a single point mutation in the factor V gene, changing Arg506 in the APC cleavage site to a Gln. We have investigated 50 Swedish families with inherited APC resistance for this mutation and found it to be present in 47 of them. Perfect cosegregation between a low APC ratio and the presence of mutation was seen in 40 families. In seven families, the co-segregation was not perfect as 12 out of 57 APC-resistant family members were found to lack the mutation. Moreover, in three families with APC resistance, the factor V gene mutation was not found, suggesting another still unidentified cause of inherited APC resistance. Of 308 investigated families members, 146 were normal, 144 heterozygotes, and 18 homozygotes for the factor V gene mutation and there were significant differences in thrombosis-free survival curves between these groups. By age 33 yr, 8% of normals, 20% of heterozygotes, and 40% of homozygotes had had manifestation of venous thrombosis.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

December 1994

Volume

94

Issue

6

Start / End Page

2521 / 2524

Location

United States

Related Subject Headings

  • Thrombophlebitis
  • Sweden
  • Survival Analysis
  • Risk Factors
  • Protein C
  • Point Mutation
  • Molecular Sequence Data
  • Male
  • Immunology
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Zöller, B., Svensson, P. J., He, X., & Dahlbäck, B. (1994). Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest, 94(6), 2521–2524. https://doi.org/10.1172/JCI117623
Zöller, B., P. J. Svensson, X. He, and B. Dahlbäck. “Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.J Clin Invest 94, no. 6 (December 1994): 2521–24. https://doi.org/10.1172/JCI117623.
Zöller, B., et al. “Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C.J Clin Invest, vol. 94, no. 6, Dec. 1994, pp. 2521–24. Pubmed, doi:10.1172/JCI117623.

Published In

J Clin Invest

DOI

ISSN

0021-9738

Publication Date

December 1994

Volume

94

Issue

6

Start / End Page

2521 / 2524

Location

United States

Related Subject Headings

  • Thrombophlebitis
  • Sweden
  • Survival Analysis
  • Risk Factors
  • Protein C
  • Point Mutation
  • Molecular Sequence Data
  • Male
  • Immunology
  • Humans