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

作者信息

Jadaon Mehrez M, Dashti Ali A, Lewis Hend L

机构信息

Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, Kuwait.

出版信息

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

DOI:10.1159/000090912
PMID:16484835
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.

摘要

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