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. 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 – u...
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Published in | Medical principles and practice Vol. 15; no. 2; pp. 102 - 105 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
Basel, Switzerland
01.01.2006
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Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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ISSN: | 1011-7571 1423-0151 |
DOI: | 10.1159/000090912 |