Abstract
Publisher Summary This chapter focuses on the characterization of factor IX defects in hemophilia B patients. The procoagulant activity of factor IX is determined by the ability of dilutions of a patient's plasma to correct the prolonged clotting time of a severely factor IX-deficient plasma in a partial thromboplastin-like assay. With cloning and sequencing of the complementary DNA (cDNA) of factor IX and the entire gene, it is now possible to analyze patient DNA directly for mutations. Altered restriction patterns on Southern blots of DNA digests hybridized to radiolabeled cDNAs or genomic probes indicate gross gene deletions in several patients with severe hemophilia B. The determination of factor IX dotting activity and antigen level is, thus, important to define mutations in patients with hemophilia B efficiently.
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