Japanese Journal of Thrombosis and Hemostasis
Online ISSN : 1880-8808
Print ISSN : 0915-7441
ISSN-L : 0915-7441
Search
Advanced search
OR
Browse
Search
Volume 18, Issue 2
Displaying 1-12 of 12 articles from this issue
Show all abstracts
    • |<
    • <
    • 1
    • >
    • >|
Reviews
Topics
Reviews
Original Article
  • Four novel missense mutations in factor IX gene were identified as causes of hemophilia B
    Akeshi KOH, Takashi SUZUKI, Keiko SHINOZAWA, Hiroshi INABA, Akihito TS ...
    2007 Volume 18 Issue 2 Pages 166-174
    Published: 2007
    Released on J-STAGE: May 30, 2007
    DOIhttps://doi.org/10.2491/jjsth.18.166
    JOURNAL FREE ACCESS
    Show abstractHide abstract
    Hemophilia B is the X-linked bleeding disorder caused by an absence or reduced activity of coagulation factor IX (FIX). A number of genetic defects have been shown in FIX gene and the most common type of mutation is point mutation. We identified 18 different point mutations in 20 Japanese subjects (Sasaki, A. et al: J Jpn Thromb Hemost 15 : 107-113, 2004.). Three missense mutaions, A28P, Q50K, L300P have not been reported previously and furthermore we identified another novel point mutation, P193L recently. Above four single FIX mutant genes were packaged in mammalian plasmid. After transfection was performed, culture medium and cells were harvested to evaluate the expression of FIX mutant proteins and compared with wild type (wt). Cell expression studies revealed that the level of FIX:C (FIX:Ag) in culture medium on these mutants were A28P 12 (58)%, Q50K 4 (77)%, L300P 1 (4)% and P193L <1 (5)% of wt, respectively. An each FIX:Ag in cell lysate were 79%, 67%, 92% and 20% of wt, respectively. Finally we revealed these 4 novel point mutations in FIX gene identified as causes of hemophilia B.
    View full abstract
    Download PDF (1031K)
Daiichi Symposium for Thrombosis Update
    • |<
    • <
    • 1
    • >
    • >|
feedback
 Top