Human Genetics

, Volume 97, Issue 2, pp 263–264 | Cite as

Population study of the G1691A mutation (R506% FV Leiden) in the human factor V gene that is associated with resistance to activated protein C

  • A. Braun
  • B. Müller
  • A. A. Rosche
DNA Variants

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%.

Keywords

Confidence Interval Internal Medicine Allelic Frequency Metabolic Disease Venous Thrombosis 

References

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • A. Braun
    • 1
  • B. Müller
    • 2
  • A. A. Rosche
    • 1
  1. 1.Dr. v. Haunersches Kinderspital, Department of Clinical Chemistry and BiochemistryUniversity of MunichGermany
  2. 2.Kinderpoliklinik, Department of Pediatric GeneticsUniversity of MunichGermany

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