A Frequent Thrombomodulin Amino Acid Dimorphism Is not Associated with Thrombophilia

P A van der Velden; T Krommenhoek-Van Es; C F Allaart; R M Bertina; P H Reitsma

doi:10.1055/s-0038-1648181

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1991; 65(05): 511-513
DOI: 10.1055/s-0038-1648181

Original Article

Schattauer GmbH Stuttgart

A Frequent Thrombomodulin Amino Acid Dimorphism Is not Associated with Thrombophilia

P A van der Velden

The Hemostasis and Thrombosis Research Unit, Department of Hematology, University Medical Center Leiden, The Netherlands

,

T Krommenhoek-Van Es

The Hemostasis and Thrombosis Research Unit, Department of Hematology, University Medical Center Leiden, The Netherlands

,

C F Allaart

The Hemostasis and Thrombosis Research Unit, Department of Hematology, University Medical Center Leiden, The Netherlands

,

R M Bertina

The Hemostasis and Thrombosis Research Unit, Department of Hematology, University Medical Center Leiden, The Netherlands

,

P H Reitsma

The Hemostasis and Thrombosis Research Unit, Department of Hematology, University Medical Center Leiden, The Netherlands

› Institutsangaben

Abstract

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Summary

We report a C/T dimorphism in the thrombomodulin (TM) gene that predicts an Ala⁴⁵⁵ → Val replacement in the sixth EGF-like domain of TM. This dimorphism has allelic frequencies of 82 (Ala) and 18% (Val) in a normal population. In a group of protein C deficient patients and in a group of subjects with unexplained thrombophilia the allelic frequencies were found to be the same as in the normal population. This indicates that with respect to thrombophilia the dimorphism is essentially neutral.

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Referenzen

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