Molekulargenetische Methoden zur Diagnostik von hereditären Gerinnungsstörungen

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

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