Molekulargenetische Methoden zur Diagnostik von hereditären Gerinnungsstörungen

R. Schwaab; H.-H. Brackmann; J. Oldenburg

doi:10.1055/s-0038-1660358

Hämostaseologie, Inhaltsverzeichnis

Hamostaseologie 1994; 14(04): 149-158
DOI: 10.1055/s-0038-1660358

Übersichtsarbeiten/Review Articles

Schattauer GmbH

Molekulargenetische Methoden zur Diagnostik von hereditären Gerinnungsstörungen

R. Schwaab

¹Institut für Experimentelle Hämatologie und Transfusionsmedizin (Direktor: Prof. Dr. med. Peter Hanfland), Universität Bonn

,

H.-H. Brackmann

¹Institut für Experimentelle Hämatologie und Transfusionsmedizin (Direktor: Prof. Dr. med. Peter Hanfland), Universität Bonn

,

J. Oldenburg

¹Institut für Experimentelle Hämatologie und Transfusionsmedizin (Direktor: Prof. Dr. med. Peter Hanfland), Universität Bonn

› Institutsangaben

Abstract

Zusammenfassung

Innerhalb dieser Übersicht sollen Direktsequenzierung, Voruntersuchungsmethoden und spezifische Mutationstests für die molekulargenetische Diagnostik von hereditären Gerinnungsstörungen vorgestellt und deren unterschiedliche Einsatzmöglichkeiten diskutiert werden. Wenn eine familienspezifische Mutation gefunden ist, kann allen Angehörigen eine direkte Überträgerdiagnostik angeboten werden. Da in vielen betroffenen Familien die für die Erkrankung ursächliche Mutation nicht bekannt ist, werden die Prinzipien der indirekten Überträgerdiagnostik ebenfalls vorgestellt.

Schlüsselwörter

Gerinnungsstörungen - Mutation - Polymorphismus - spezifische Mutationsnachweismethoden - Voruntersuchungsmethoden - Überträgerdiagnostik

Volltext

Referenzen

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