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Hamostaseologie 2004; 24(02): 94-107
DOI: 10.1055/s-0037-1619618
In eigener Sache
Schattauer GmbH

Gerinnungsfaktoren VII, VIII, IX und X

Ausgewählte Aspekte zur Molekulargenetik und GendiagnostikFactors VII, VIII, IX, and X: molecular genetics and gene diagnosis
F. H. Herrmann
,
K. Wulff
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Publication History

Publication Date:
27 December 2017 (online)

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Zusammenfassung

In einer Übersicht werden einige molekulargenetische Aspekte der Gerinnungsfaktoren VII, VIII, IX und X dargestellt. Das Spektrum der Mutationen wird charakterisiert, das zu den genetisch bedingten Defekten Hämophilie A und B, Faktor-VII- und -X-Mangel führt. Für die Hämophilien A und B wird der genetische Beratung auf der Grundlage des X-chromosomalen Erbganges und der indirekten und direkten genomischen Analyse an ausgewählten Beispielen vorgestellt.

Die Gene der Vitamin-K-abhängigen Serinproteasen Faktor VII und Faktor X sind auf dem Chromosom 13 lokalisiert. Mutationen führen zu autosomal-rezessiv vererbtem Faktor-VII- oder Faktor-X-Mangel. Das Mutationspektrum, die Rolle von Polymorphismen der Gene und das Spektrum der spontanen Blutungen dieser seltenen Blutungsleiden werden charakterisiert und Genotyp-Phänotyp-Korrelationen aufgezeigt.

Summary

Molecular genetic aspects of the inherited bleeding disorders haemophilia A and B, deficiencies of factor VII and X are described. The spectrum of the mutations is characterized. For genetic counselling the X-chromosomal inheritance of haemophilia and the principles of the indirect and direct genomic diagnosis are explained. Clinics and genetics of the rare inherited bleeding disorders known as factor VII and factor X deficiency are summarized. The mutations spectrum, the role of polymorphisms, the bleeding pattern and genotype-phenotype relations are described.

Schlüsselwörter

Faktor-VII-Gen - Faktor-VIII-Gen - Faktor-IX-Gen - Faktor-X-Gen - Mutationsanalyse - genetische Beratung

Keywords

Factor VII - factor VIII - factor IX - factor X - mutation analysis - genetic counselling
 

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