Background: Hemophilia B is an X-linked recessive coagulation disorder caused by factor IX deficiency. Analysis of factor IX gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia B where the identification of gene mutation is not easily possible. Objective: To study the frequency of three factor IX-linked restriction fragment length polymo...

is a congenital, often familial, hemorrhagic disorder which was distinguished from classical hemophilia (AHG deficiency, factor VIII deficiency, hemophilia A) in 1952.13 Like the latter, it is usually inherited as a sex-linked recessive trait: only the male hemizygote for the abnormal gene is clinically affected, and the female heterozygote or carrier is asymptomatic. From a eugenic standpoint ...

is a congenital, often familial, hemorrhagic disorder which was distinguished from classical hemophilia (AHG deficiency, factor VIII deficiency, hemophilia A) in 1952.13 Like the latter, it is usually inherited as a sex-linked recessive trait: only the male hemizygote for the abnormal gene is clinically affected, and the female heterozygote or carrier is asymptomatic. From a eugenic standpoint ...

A comparison has been made of the electrophoretic behavior, chemical composition, amino-terminal sequence, and immunological properties of bovine prothrombin, factor IX (Christmas factor), and factor X (Stuart factor). Some immunological crossreactivity was found between the antibody to prothrombin and factor X although prothrombin and factor X differ substantially in amino-acid and carbohydrat...

There is increasing evidence that hypoxia-regulated gene expression influences tumor aggressiveness, contributing to the poorer outcome of patients with hypoxic tumors. The role of the transcriptional complex hypoxia-inducible factor-1 as an important mediator of hypoxia-regulated gene expression is one of the best documented pathways. Recently, it has emerged that certain tumor-associated carb...

Hemophilia B is an X-Iinked recessive bleeding disorder resulting from a deficiency of the coagulation factor IX (FIX) protein activity. a vitamin K-dependent serine protease active in both the intrinsic and extrinsic coagulation systems. DNA analyses of the factor IX gene in two unrelated patients with severe hemophilia B. with a IX coagulant activity <1 % and undetectable FIX antigen. detecte...

There is increasing evidence that hypoxia-regulated gene expression influences tumor aggressiveness, contributing to the poorer outcome of patients with hypoxic tumors. The role of the transcriptional complex hypoxia-inducible factor-1 as an important mediator of hypoxia-regulated gene expression is one of the best documented pathways. Recently, it has emerged that certain tumor-associated carb...

Factor IX is a zymogen enzyme of the blood coagulation cascade. Inherited absence or deficit of the IX functional factor causes bleeding disorder hemophilia B, which requires constant protein replacement therapy. Reviewed herein are the current state in the manufacturing of FIX, improved variants of the recombinant protein for therapy, transgenic organisms for obtaining FIX, and the advances in...

We tested the hypothesis that the antibody response to human factor IX in mice is controlled by genetic factors, especially histocompatibility antigens. Seven inbred mouse strains were immunized against human factor IX by adenoviral gene transfer or serial injections of human factor IX protein. A/J mice had the highest antibody response and 2 C57 mouse strains had the lowest response. We used t...

Potential limitations of prenatal diagnosis of hemophilia B, as compared to hemophilia A, include (1) occurrence of far more frequent defects with abnormal circulating antigen, (2) lower levels of factor IX in fetal plasma at 16 to 20 weeks gestation, and (3) the presence of factor IX antigen in amniotic fluid. In addition, proteolysis could occur, especially with amniotic fluid contamination o...