Factor V Kuwait: a novel mutation in the coagulation factor V gene discovered in Kuwait

Med Princ Pract. 2006;15(2):102-5. doi: 10.1159/000090912.

Abstract

Objective: It was the aim of this study to report a new point mutation in the clotting factor V gene in the general Arab population.

Subjects and methods: The HR2 haplotype was tested in 288 Arabs living in Kuwait--188 patients with venous thromboembolic disorders (VTE) and 100 healthy subjects--using polymerase chain reaction and restriction fragment length polymorphism techniques. The presence of the new mutation was verified by DNA sequencing.

Results: Two (1.06%) VTE patients had guanine instead of the wild-type adenine at nucleotide number 3935 (A3935G) of the factor V gene. This mutation caused a histidine to arginine change in amino acid number 1254 of the factor V molecule. The new mutation is termed 'factor V Kuwait' (His1254Arg) and was absent in the 100 healthy subjects.

Conclusion: It appears that factor V Kuwait could be a risk factor for developing VTE in Arabs. A larger study is needed to confirm this observation.

MeSH terms

  • Arabs
  • Electrophoresis, Agar Gel
  • Factor V / genetics*
  • Haplotypes
  • Humans
  • Kuwait
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Venous Thrombosis / genetics*

Substances

  • Factor V