Intragenic Factor IX restriction site polymorphism in hemophilia B variants
HJ Hassan, M Orlando, A Leonardi, C Chelucci, R Guerriero, PM Mannucci, G Mariani and C Peschle
This study includes 47 normal subjects and 25 hemophilia B patients without
inhibitor(s), showing different factor IX coagulant activity and antigen
levels. Genomic DNA, digested with various restriction endonucleases, was
hybridized with two different factor IX probes, ie, the cDNA and the
subgenomic probe for the intragenic TaqI polymorphic site. cDNA restriction
patterns suggest absence of gross rearrangements and/or deletions in all
hemophilic patients. The frequency of the X chromosome bearing the TaqI
polymorphic site is 0.32 +/- 0.09 in hemophilic subjects v 0.36 +/- 0.06 in
normal control subjects, the latter value being comparable to that reported
for the normal British population. No association between this polymorphism
and hemophilia B variants has been observed, thus indicating that a wide
spectrum of mutations underlies this blood-clotting disorder and
particularly each of its variants.
Volume 65,
Issue 2,
pp. 441-443,
02/01/1985
Copyright © 1985 by The American Society of Hematology
