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Hamostaseologie 1989; 09(03): 130-137
DOI: 10.1055/s-0038-1655320
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Schattauer GmbH

Multiple Genotypen bei Ashkenazim mit Faktor-XI-Mangel

R. Asakai
1   Department of Biochemistry, SI 70, University of Washington, Seattle, Washington (USA)
,
D. Chung
1   Department of Biochemistry, SI 70, University of Washington, Seattle, Washington (USA)
› Author Affiliations
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Publication History

Publication Date:
25 June 2018 (online)

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Zusammenfassung

Die Struktur des Faktor-XI-Gens wurde bei sechs nicht verwandten Ashkenazim mit Faktor-XI-Mangel analysiert. Es wurden keine groben Veränderungen dieser Gene durch Southern-Blot-Analyse der genomischen DNA gefunden. Die Klonierung der Faktor-XI-Gene, die Polymerase-Chain-Reaction(PCR)-Analyse und die Sequenzierung der Exone und der Exon/Intron-Verbindungen machte es möglich, eine Mutation der Spleiß Verbindung, eine Nonsens-Mutation und eine SauSAI-Mutation zu identifizieren. Diese drei Arten von Allelen zusammen erklären alle genetischen Defekte bei diesen sechs Personen. Das Vorkommen multipler Allelmutationen läßt die Hypothese des selektiven Vorteils gegenüber der genetischen Verschiebungshypothese als Erklärung des Überlebens des abnormen Faktor-XI-Gens wahrscheinlicher erscheinen.

 

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