A Factor V Genetic Component Differing From Factor V R506Q Contributes to the Activated Protein C Resistance Phenotype
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چکیده
منابع مشابه
A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype.
Factor V gene polymorphisms were investigated to detect components that may contribute to the activated protein C (APC) resistance phenotype in patients with venous thromboembolism. A specific factor V gene haplotype (HR2) was defined by six polymorphisms and its frequency was found to be similar in normal subjects coming from Italy (0.08), India (0.1), and Somalia (0.08), indicating that it wa...
متن کاملResistance to activated protein C and factor V Leiden.
Over the last four years, there has been an explosion of knowledge about APCr and factor V Leiden. However, there remain a considerable number of difficult clinical areas in which there are no clear answers. Undoubtedly, factor V Leiden is commonly found in association with venous thromboembolic disease in whatever manifestation, but equally it has an unusually high frequency in the general pop...
متن کاملActivated protein C resistance and factor V Leiden: a review.
CONTEXT Factor V Leiden (FVL) is the most common heritable cause of venous thrombosis. It is caused by a single nucleotide substitution resulting in an R506Q missense mutation, resulting in factor V resistance to activated protein C (APC) inactivation. Carriers of FVL have an increased susceptibility to venous thrombosis, which is further increased in the presence of other genetic or environmen...
متن کاملpolymorphisms at activated protein c cleavage sites of factor v: are they important in the absence of factor v leiden?
introduction : activated protein c (apc) inactivates factor v by cleavage of its heavy chain at arg306, arg506, arg679, and lys994. mutational changes, which abolish apc cleavage sites, may predispose thrombosis by altering the inactivation process of factor v. factor v leiden (arg506glu) has been demonstrated as a strong risk factor for thrombosis. in the current study, we have studied whethe...
متن کاملA novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation
Blood samples were obtained by the family physician and immediately sent to the laboratory for testing. All subjects investigated gave full written and informed consent for genetic testing in accordance with the Austrian Gene Technology Act. EDTA whole blood was used for the genetic testing of factor V Leiden (F5 R506Q), employing a customized 5'-nuclease TaqMan assay (ABI, Waltham, MA). PCR wa...
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ژورنال
عنوان ژورنال: Blood
سال: 1997
ISSN: 1528-0020,0006-4971
DOI: 10.1182/blood.v90.4.1552