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Factor V Kuwait: a novel mutation in the coagulation factor V gene discovered in Kuwait
Medical Principles and Practice. 2006; 15 (2): 102-106
en En | IMEMR | ID: emr-79520
Biblioteca responsable: EMRO
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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Índice: IMEMR Asunto principal: Haplotipos / Reacción en Cadena de la Polimerasa / Mutación Puntual / Trombosis de la Vena / Electroforesis en Gel de Agar Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Med. Princ. Pract. Año: 2006
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Índice: IMEMR Asunto principal: Haplotipos / Reacción en Cadena de la Polimerasa / Mutación Puntual / Trombosis de la Vena / Electroforesis en Gel de Agar Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Med. Princ. Pract. Año: 2006