Author/Editor     Plausteiner, Katarina
Title     Kazalci aktivirane koagulacije pri bolnikih z vensko trombozo in mutacijo v genu za protrombim in faktor V2
Translated title     Indicators of activated coagulation in patients with venous thrombosis and mutation in the genes for prothrombin and factor V2
Type     članek
Source     Med Razgl
Vol. and No.     Letnik 42, št. 2
Publication year     2003
Volume     str. 133-45
Language     slo
Abstract     Mutation in the prothrombin gene (G20120A) and in the factor V gene (G1691A), which is manifested as resistance to the activated protein C (nAPC), are important risk factors for thromboembolic disease because they are presumably connected with activated coagulation. The prevalence of both mutations shows a significant geographical distribution. The prevalence of prothrombin mutation among patients with deep vein thrombosis is not yet known in Slovenia. The aim of our research was to determine the prevalence of prothrombin gene mutation in patients with deep vein thrombosis and to study the possible connection between this mutation, mutation in factor V and higher concentrations of markers of activated coagulation: a peptide released from prothrombin during its activation to thrombin (F1+2), a complex between thrombin and antithrombin (TAT) and degradation products of cross-linked fibrin (D-dimers). Our research was based on the hypothesis that the prevalence of prothrombin mutation is similar to that in neighboring populations. Prothrombin mutation and mutation in factor V are connected to higher concentrations of markers of activated coagulation in patients with deep vein thrombosis. 88 patients with deep vein thrombosis were included in the retrospective study. DNA was isolated and DNA analysis was performed. Mutation in the factor V gene was determined as nAPC. The concentrations of markers of activated coagulation were measured using enzyme immunoassays. The prevalence of prothrombin gene mutation was 6.8%, that of nAPC was 23.3% and that of both was 3.5%, which is in concordance with the prevalence of both mutations in patients with deep vein thrombosis in neighboring populations. (Abstract truncated at 2000 characters).
Summary     Mutacija v genu za protrombin (G20120A) in mutacija v genu za faktor V (G1691A), ki se odraža kot neodzivnost na aktivirani protein C (nAPC), sta pomembna dejavnika tveganja za tromboembolijo, ker sta domnevno povezani z aktivirano koagulacijo. Pogostnost obeh mutacij kaže geografsko značilno razporeditev, pogostnost mutacije za protrombin pa med bolniki z vensko trombozo v Sloveniji še ni znana. Namen naloge je bil določiti pogostnost mutacije v genu za protrombin pri bolnikih z vensko trombozo ter preučiti možno povezavo med to mutacijo ter mutacijo v genu za faktor V s povišanimi koncentracijami kazalcev aktivirane koagulacije: peptidom, ki nastane ob aktivaciji protrombina v trombin (F1+2), kompleksom med trombinom in antitrombinom (TAT) ter razgradnimi produkti premreženega fibrina (D-dimeri). Postavili smo hipotezo, da je pogostnost mutacije v protrombinu podobna pogostnosti pri populacijah sosednjih držav. Mutaciji v protrombinu in faktorju V sta povezani s povišanimi koncentracijami kazalcev aktivirane koagulacije pri bolnikih z vensko trombozo. V retrospektivno raziskavo smo vključili 88 bolnikov, ki so preboleli vensko trombozo. Iz vzorcev krvi smo izolirali DNK in analizirali gen za protrombin. Mutacijo za faktor V smo določili z nAPC. Bolnikom smo izmerili koncentracije kazalcev aktivirane koagulacije (F1+2, TAT in D-dimere) z encimsko imunskimi preiskavami. Pogostnost mutacije za protrombin je bila 6,8%, nAPC 23,3% in obeh hkrati 3,5%, kar je v skladu s pogostnostjo obeh mutacij pri bolnikih z vensko trombozo pri populacijah sosednjih držav. Razlike med koncentracijami kazalcev aktivirane koagulacije med bolniki z različnimi genotipi niso bile statistično značilne. (Izvleček skrajšan na 2000 znakov).
Descriptors     THROMBOPHLEBITIS
PROTHROMBIN
FACTOR V
POINT MUTATION