Journalartikel

Jahr der Veröffentlichung: 2005

Seiten: 248-252

Zeitschrift: British Journal of Haematology

Bandnummer: 128

Heftnummer: 2

ISSN: 0007-1048

eISSN: 1365-2141

Open Access Status: Bronze

DOI Link: https://doi.org/10.1111/j.1365-2141.2004.05297.x

Verlag: Wiley

Abstract: 
The clinical significance of diminished protein Z in plasma is controversial. Studies in mice demonstrated that deficiency of protein Z dramatically increases the prothrombotic tendency of factor V Leiden mutation. This finding was confirmed by initial results in humans, indicating that thromboembolism in factor V Leiden patients with lowered protein Z level occurs earlier than in patients with normal protein Z levels. Consequently, the aim of our present study was to find out whether genetic alterations of protein Z were demonstrated in patients with factor V Leiden mutation and early onset of thromboembolic disease. DNA-sequencing of the protein Z gene was performed in two patients with factor V Leiden mutation, early onset of thromboembolism, and lowered protein Z levels. In both patients, R255H substitution of the protein Z gene was identified. Subsequently, the R255H substitution was also found in 12 of 132 additional patients. Patients presenting with the R255H substitution in addition to factor V Leiden mutation showed thromboembolic events more frequently than factor V Leiden patients without R255H substitution of the protein Z gene. In conclusion, R255H substitution of the protein Z gene seems to influence clinical symptoms of thromboembolism in factor V Leiden patients.

Harvard-Zitierstil: Kemkes-Matthes, B., Matthes, K., Souri, M., Koseki-Kuno, S. and Ichinose, A. (2005) R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation, British Journal of Haematology, 128(2), pp. 248-252. https://doi.org/10.1111/j.1365-2141.2004.05297.x

APA-Zitierstil: Kemkes-Matthes, B., Matthes, K., Souri, M., Koseki-Kuno, S., & Ichinose, A. (2005). R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation. British Journal of Haematology. 128(2), 248-252. https://doi.org/10.1111/j.1365-2141.2004.05297.x