Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C

A Braun; B Müller; A A Rosche

doi:10.1007/BF02265279

Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C

Hum Genet. 1996 Feb;97(2):263-4. doi: 10.1007/BF02265279.

Authors

A Braun¹, B Müller, A A Rosche

Affiliation

¹ Dr. v. Haunersches Kinderspital, Department of Clinical Chemistry and Biochemistry, University of Munich, Germany.

PMID: 8566967
DOI: 10.1007/BF02265279

Abstract

The mutation G1691A (R506Q) in the human factor V gene is associated with the resistance to activated protein C (APC) that represents a major risk of development of venous thrombosis. A population study of 180 unrelated individuals from south Germany was performed. Examination of the allelic frequencies revealed a high prevalence of this disease-related mutation (Q506, FV Leiden). The heterozygosity rate was 7.8% with a confidence interval between 4% and 11%.

MeSH terms

Base Sequence
Factor V / genetics*
Gene Frequency*
Genetic Carrier Screening
Genetic Testing
Germany
Humans
Molecular Sequence Data
Point Mutation*
Protein C / physiology*
Thrombophlebitis / genetics

Substances

Protein C
factor V Leiden
Factor V