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


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.


CONCLUSIONS
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.
Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, Kuwait. mehrez@hsc.edu.kw
Mehrez M
MM
Jadaon
Ali A
AA
Dashti
Hend L
HL
Lewis
D018912:Arabs; D004587:Electrophoresis, Agar Gel; D005165:Factor V / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007730:Kuwait; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020246:Venous Thrombosis / Q000235:genetics*
D005165:Factor V