Molekularbiologie des von-Willebrand-Faktors

D. J. Mancuso; J. E. Sadler

doi:10.1055/s-0038-1655261

Hämostaseologie, Table of Contents

Hamostaseologie 1989; 09(03): 122-129
DOI: 10.1055/s-0038-1655261

Originalarbeiten

Schattauer GmbH

Molekularbiologie des von-Willebrand-Faktors

D. J. Mancuso

¹Howard Hughes Medical Institute; Department für Medizin und Department für Biochemie und molekulare Biophysik; Washington University Medical School, St. Louis (USA)

,

J. E. Sadler

¹Howard Hughes Medical Institute; Department für Medizin und Department für Biochemie und molekulare Biophysik; Washington University Medical School, St. Louis (USA)

› Author Affiliations

Abstract

Zusammenfassung

Die letzten Jahre haben schnelle Fortschritte in unserem Verständnis der Molekularbiologie des von-Willebrand-Faktors (vWF) gebracht. Es wurde die komplette cDNA-Sequenz des vWF des Menschen bestimmt und die Intron/Exon-Organisation des vWF-Gens und ein Pseudogen charakterisiert. Die Strukturen dieser Gene haben interessante Folgerungen für ihre Evolution. Der aktive rekombinante vWF wurde in Zellkulturen exprimiert. Es wurden mehrere Restriktionsfragmentlangen Polymorphismen (RFLP) des vWF-Gens mitgeteilt und Gendeletionen charakterisiert, die eine schwere von-Willebrand-Erkrankung (vWD) verursachen. Neue Technologien für die Analyse von DNS-Sequenzen werden eine schnelle Aufklärung der molekularen Grundlagen der vWD-Varianten gestatten.

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References

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