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  1. Prevalence of prothrombin G20210A, factor V G1691A (Leiden), and methylenetetrahydrofolate reductase (MTHFR) C677T in seven different populations determined by multiplex allele-specific PCR.

    Article - En anglais

    Individuals belonging to six racial groups (African American, Asian Indian, Caucasian, Hispanic, Korean, Native American), and a seventh group comprised of referred patients with thrombosis were genotyped for the prothrombin G20210A mutation, the factor V G1691A (Leiden) mutation, and the methylenetetrahydrofolate reductase (MTHFR) C677T mutation by multiplexed allele-specific PCR.

    The prothrombin 20210A and factor V 1691A allele frequencies in the thrombosis patients, 3.2% and 9.5%, were significantly higher than those in the random Caucasians, 1.3% and 1.8%, (p=0.043 and p<0.001, respectively).

    The relative risk of venous thrombosis was determined to be 2.4-fold for carriers of the prothrombin 20210A allele (odds ratio=2.54 ; 95% confidence interval=0.94,6.82) and 4.5-fold for carriers of the factor V 1691A allele (odds ratio=5.06 ; 95% confidence interval=2.25,11.36).

    Among the seven populations, significant differences were observed in the MTHFR 677T allele distribution, however this mutation was not determined to be a risk factor for venous thrombosis in the patient group studied, either alone or in combination with the prothrombin 20210A and/or the factor V 1691A allele (s).

    Mots-clés Pascal : Thrombose, Veine, Facteur risque, Mutation, Facteur coagulation, Prothrombine, Gène, Facteur V Leiden, Résistance, Protéine C, Race, Caucasoïde, Négroïde, Mongoloïde, Methylenetetrahydrofolate reductase (NADPH), Oxidoreductases, Enzyme, Réaction chaîne polymérase, Multiplexage, Epidémiologie, Homme, Génotype, Appareil circulatoire pathologie, Vaisseau sanguin pathologie, Veine pathologie, Hémopathie, Coagulopathie, Maladie héréditaire, Génétique, Biologie moléculaire

    Mots-clés Pascal anglais : Thrombosis, Vein, Risk factor, Mutation, Coagulation factor, Prothrombin, Gene, Factor V Leiden, Resistance, Protein C, Race, Caucasoid, Negroid, Mongoloid, Methylenetetrahydrofolate reductase (NADPH), Oxidoreductases, Enzyme, Polymerase chain reaction, Multiplexing, Epidemiology, Human, Genotype, Cardiovascular disease, Vascular disease, Venous disease, Hemopathy, Coagulopathy, Genetic disease, Genetics, Molecular biology

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 99-0263156

    Code Inist : 002B12B03. Création : 16/11/1999.