Factor V Kuwait: a novel mutation in the coagulation factor V gene discovered in Kuwait
Medical Principles and Practice. 2006; 15 (2): 102-106
in English
| IMEMR
| ID: emr-79520
ABSTRACT
It was the aim of this study to report a new point mutation in the clotting factor V gene in the general Arab population. 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. 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. 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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Haplotypes
/
Polymerase Chain Reaction
/
Point Mutation
/
Venous Thrombosis
/
Electrophoresis, Agar Gel
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Med. Princ. Pract.
Year:
2006
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