Carrier Testing in Hemophilia B With an Immunoassay That Distinguishes a Prevalent Factor
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چکیده
lmmunoassays with a monoclonal antibody (A-i ) detect a prevalent dimorphism in plasma coagulation factor IX. The antibody was shown to react with a dimorphic segment of the normal factor IX sequence as follows. First. A-i bound to isolated activation peptide (residues 146 through 180) prepared from activated factor IX from a normal plasma pool. Second, binding of recombinant factor lXs with A-i or factor IX from normal individuals was strong only when they had Threonine (Thr) at position 148; factor lXs with the Alanine (Ala) allele at that position were far less reactive. Third. immunoblot reactivity of Escherichia coIl fusion proteins containing known segments of the factor IX sequence restricted the epitope to residues i47 through i 53. In i 20 hemophilia B pedigrees. the Ala immunoassay allele frequency was 0.i 9 and did not differ from the Ala frequency in normal males. In 22 of 49 families. immunoas-
منابع مشابه
Carrier testing in hemophilia B with an immunoassay that distinguishes a prevalent factor IX dimorphism.
Immunoassays with a monoclonal antibody (A-1) detect a prevalent dimorphism in plasma coagulation factor IX. The antibody was shown to react with a dimorphic segment of the normal factor IX sequence as follows. First, A-1 bound to isolated activation peptide (residues 146 through 180) prepared from activated factor IX from a normal plasma pool. Second, binding of recombinant factor IXs with A-1...
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تاریخ انتشار 2005