Molekularbiologische Grundlagen und Diagnostik der Hämophilie A

Zusammenfassung

Die Entwicklungen auf dem Gebiet der DNA-Technologie ermöglichen heute den routinemäßigen Einsatz der Genanalyse zur Identifikation von Überträgerinnen der Hämophilie A sowie zur pränatalen Diagnose. Die Anwendung dieser mittlerweile sehr wichtigen Labormethoden in Kombination mit Gerinnungsanalysen, immunologischen Methoden und Stammbaumanalysen erlaubt eine weitaus sicherere Diagnose des Konduktorinnenstatus als dies noch vor wenigen Jahren der Fall war. Die Entwicklung effizienter Methoden zur direkten Detektion der kausalen Mutationen und besonders die Identifikation der Inversion im Intron 22 des FVIII-Gens bei etwa 50% der Patienten mit schwerer Hämophilie A bedeuten eine wesentliche Verbesserung bei der Erstellung einer genetischen Diagnose. Fortschritte der verschiedenen Technologien werden sicher in naher Zukunft einen direkten Mutationsnachweis und damit eine zuverlässige Diagnose der Konduktorinnen der Hämophilie A in allen Familien ermöglichen.

Schlüsselwörter

Faktor VIII - Biochemie - Molekularbiologie - Hämophilie A - Genanalyse

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