Molekularbiologische Grundlagen und Diagnostik der Hämophilie A

Christine Mannhalter

doi:10.1055/s-0038-1660360

Hämostaseologie, Table of Contents

Hamostaseologie 1994; 14(04): 169-175
DOI: 10.1055/s-0038-1660360

Übersichtsarbeiten/Review Articles

Schattauer GmbH

Molekularbiologische Grundlagen und Diagnostik der Hämophilie A

Christine Mannhalter

¹Klinisches Institut für Medizinisch-Chemische Labordiagnostik, Universität Wien (stellvertretender Vorstand: Prof. Dr. Helmut Rumpold)

› Author Affiliations

Abstract

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

Full Text

References

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