Εξειδίκευση τύπου :	Άρθρο σε επιστημονικό περιοδικό
Τίτλος:	Two polymorphisms causing an increase on blood coagulation factor IX proteolytic activity
Δημιουργός/Συγγραφέας:	Iskas, M.S. Papi, R.M Rafailidis, S.P. Makris, P.E. [EL] Κυριακίδης, Δ.Α.[EN] Kyriakidis, D.A.
Εκδότης:	Wiley-Blackwell Publishing Ltd.
Ημερομηνία:	2008
Γλώσσα:	Αγγλικά
ISSN:	1742-464X
DOI:	10.1111/j.1742-4658.2008.06448.x
Περίληψη:	Blood coagulation factor IX is a plasma proenzyme which is activated during the coagulation cascade into an active serine protease. Among the detected polymorphisms of fIX gene, polymorphisms A21975G and A32881C cause the T194A and T461G mutations on the protein with a prevalence of 23% and 2% in the normal individuals, respectively. However, in our previous studies the A21975G polymorphism was detected in a higher percentage among a group of thrombophilic patients showing correction of their coagulation tests by in vitro adding of recombinant fIX. Hence, these two mutations were introduced into the truncated factor IX (rf9), and their effect on the expressed proteolytic activity was determined. The truncated fIX was overexpressed by pET22/rf9 lacking the first N-terminal domain which is essential for the protein expression in prokaryotic cells. In the fIX gene mutations at positions A21975G and A32881C were introduced. The native and the two mutated forms of rf9 were retrieved and purified from cytoplasm using a Q-Sepharose ff column. The purified proteins were activated by ‘Russell’s viper venom FX activating protein’ (RVV-X). Both mutations significantly increased the proteolytic activity of the protein as shown by the Km and Vmax values, indicating that these polymorphisms might be responsible for the thrombophilic incidence in the above mentioned patients
Τίτλος πηγής δημοσίευσης:	The FEBS Journal
Τόμος/Κεφάλαιο:	275
Τεύχος:	s 1
Σελίδες:	422-422
Κάτοχος πνευματικών δικαιωμάτων:	© 2008 The Authors Journal compilation © 2008 FEBS
Ηλεκτρονική διεύθυνση περιοδικού (link) :	http://www3.interscience.wiley.com/journal/119877016/tocgroup
Σημειώσεις:	Abstract Poster Presentation
Εμφανίζεται στις συλλογές:	Άλλα