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Titolo:
MUTATION IN BLOOD-COAGULATION FACTOR-V ASSOCIATED WITH RESISTANCE TO ACTIVATED PROTEIN-C
Autore:
BERTINA RM; KOELEMAN BPC; KOSTER T; ROSENDAAL FR; DIRVEN RJ; DERONDE H; VANDERVELDEN PA; REITSMA PH;
Indirizzi:
UNIV LEIDEN HOSP,CTR HEMOSTASIS & THROMBOSIS RES,BLDG 1-C2R,POB 9600 2300 RC LEIDEN NETHERLANDS UNIV LEIDEN HOSP,DEPT CLIN EPIDEMIOL 2300 RC LEIDEN NETHERLANDS
Titolo Testata:
Nature
fascicolo: 6475, volume: 369, anno: 1994,
pagine: 64 - 67
SICI:
0028-0836(1994)369:6475<64:MIBFAW>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACTOR-XA; COMPLETE CDNA; FACTOR-VIII; CERULOPLASMIN; DEFICIENCY; INHIBITION; SEQUENCE; THROMBIN; CLONING; HEPARIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
R.M. Bertina et al., "MUTATION IN BLOOD-COAGULATION FACTOR-V ASSOCIATED WITH RESISTANCE TO ACTIVATED PROTEIN-C", Nature, 369(6475), 1994, pp. 64-67

Abstract

ACTIVATED protein C (APC) is a serine protease with potent anticoagulant properties, which is formed in blood on the endothelium from an inactive precursor(1). During normal haemostasis, APC limits clot formation by proteolytic inactivation of factors Va and VIIIa (ref. 2). To do this efficiently the enzyme needs a nonenzymatic cofactor, protein S(ref. 3). Recently it was found that the anticoagulant response to APC (APC resistance)(4) was very weak in the plasma of 21% of unselectedconsecutive patients with thrombosis(5) and about 50% of selected patients with a personal or family history of thrombosis(6,7); moreover, 5% of healthy individuals show APC resistance, which is associated with a sevenfold increase in the risk for deep vein thrombosis(5). Here we demonstrate that the phenotype of APC resistance is associated with heterozygosity or homozygosity for a single point mutation in the factor V gene (at nucleotide position 1,691, G --> A substitution) which predicts the synthesis of a factor V molecule (FV Q506, or FV Leiden) that is not properly inactivated by APC. The allelic frequency of the mutation in the Dutch population is similar to 2% and is at least tenfold higher than that of all other known genetic risk factors for thrombosis (protein C (ref. 8), protein S (ref. 9), antithrombin(10) deficiency) together.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 19:12:32