Abstract:
: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.
journal_name
Bloodjournal_title
Bloodauthors
Hassan HJ,Orlando M,Leonardi A,Chelucci C,Guerriero R,Mannucci PM,Mariani G,Peschle Csubject
Has Abstractpub_date
1985-02-01 00:00:00pages
441-3issue
2eissn
0006-4971issn
1528-0020journal_volume
65pub_type
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