Das Faktor-XII(Hageman)-Gen des Menschen

Zusammenfassung

Es werden die cDNA für den humanen Faktor XII (Hageman-Faktor) und das Gen beschrieben. Die Analyse der vorhergesagten Aminosäuresequenz zeigte, daß die aminoterminale Hälfte des Proteins aus multiplen, dem Fibronektin und Plasminogenaktivator homologen Domänen besteht. Das aus 12 kbp bestehende Gen hat 14 Exone und ist am menschlichen Chromosom 5q33-qter lokalisiert. Zusätzlich wurde ein Taql-Restriktionsfragmentlängen-Polymorphismus (RFLP) beschrieben. Das Modell des Exon shuffling (Exon-Kombination) wurde in dem Befund veranschaulicht, wobei homologe Proteindomänen durch getrennte Exone kodiert werden. Die Intron/Exon-Organisation der Serinproteasedomäne zeigt, daß Faktor XII zur gleichen Subfamilie von Serinproteasen gehört wie die Plasminogenaktivatoren und der Faktor XI.

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