Homozygous G20210A Transition in the Prothrombin Gene Associated with Severe Venous Thrombotic Disease: Two Cases in a French Family

Christophe Zawadzki; Valérie Gaveriaux; Nathalie Trillot; Anne Bauters; Annie Watel; Martine Alhenc-Gelas; Claude Preudhomme; Brigitte Jude

doi:10.1055/s-0037-1615406

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1998; 80(06): 1027-1028
DOI: 10.1055/s-0037-1615406

Letters to the Editor

Schattauer GmbH

Homozygous G20210A Transition in the Prothrombin Gene Associated with Severe Venous Thrombotic Disease: Two Cases in a French Family

Christophe Zawadzki

¹Laboratoire d’Hématologie, Hôpital Cardiologique, Centre Hospitalier Régional et Universitaire, Lille, France

,

Valérie Gaveriaux

¹Laboratoire d’Hématologie, Hôpital Cardiologique, Centre Hospitalier Régional et Universitaire, Lille, France

,

Nathalie Trillot

¹Laboratoire d’Hématologie, Hôpital Cardiologique, Centre Hospitalier Régional et Universitaire, Lille, France

,

Anne Bauters

¹Laboratoire d’Hématologie, Hôpital Cardiologique, Centre Hospitalier Régional et Universitaire, Lille, France

,

Annie Watel

¹Laboratoire d’Hématologie, Hôpital Cardiologique, Centre Hospitalier Régional et Universitaire, Lille, France

,

Martine Alhenc-Gelas

²Unité INSERM 428, Hôpital Broussais, Paris, France

,

Claude Preudhomme

¹Laboratoire d’Hématologie, Hôpital Cardiologique, Centre Hospitalier Régional et Universitaire, Lille, France

,

Brigitte Jude

¹Laboratoire d’Hématologie, Hôpital Cardiologique, Centre Hospitalier Régional et Universitaire, Lille, France

› Author Affiliations

Abstract

Full Text

References

References
1 Poort S, Rosendaal F, Reitsma P, Bertina R. A common genetic variation in the 3‘-unrelated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-703.
2 Cooper P, Beauchamps N, Daly M, Bayliss I, Peake I, Markis M, Preston F. The prothrombin 20210 G→A variant is associated with increased levels of prothrombin and increased incidence of venous thrombosis. Thromb Haemost 1997; suppl: 379.
3 Corral J, Gonzalez-Conejero R, Lozano M, Rivera J, Heras I, Vicente V. The venous thrombosis risk factor 20210A allele of the prothrombin gene is not a major risk factor for arterial thrombotic disease. Brit J Haematol 1997; 99: 304-7.
4 Brown K, Luddington R, Williamson D, Baker P, Baglin T. Risk of venous thromboembolism associated region of the prothrombin gene. Brit J Haematol 1997; 98: 907-9.
5 Doggen C, Visser T, Bertina R, Manger Ctas V, Rosendaal F. Prothrombin 20210 G→A as a moderate risk factor for myocardial infarction. Thromb Haemost 1997; suppl: 379.
6 Arruda V, Annichino-Bizzacchi J, Gonçalves M, Costa F. Prevalence of the prothrombin gene variant (nt20210A) in venous thrombosis and arterial disease. Thromb Haemost 1997; 78: 1430-3.
7 Howard T, Marusa M, Channell C, Duncan A. A patient homozygous for a mutation in the prothrombin gene 3‘-untranslated region associated with massive thrombosis. Blood Coagul Fibrinolysis 1997; 8: 316-9.
8 Bertina R, Koeleman R, Koster T, Rosendaal F, Dirven R, De Ronde H, Van der Velden P, Reitsma P. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
9 Frosst P, Blom H, Milos R, Goyette P, Sheppard C, Matthews R, Boers G, den Heijer M, Kluijtmans L, Van den Heuvel L, Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet 1995; 10: 111-3.
10 Laurell C. Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Anal Biochem 1966; 15: 45-52.