158 KB41 KB199420252003Palusteiner, Katarinaštevilka:2letnik:42str. 133-145ISSN:0025-8121COBISSID:17291737URN:URN:NBN:SI:doc-TKQJ0GJVslMedicinski razglediMedicinski razglediFactor VFaktor VGeneticsgenikoagulacijamutacijePoint MutationProthrombinProtrombinThrombophlebitisTočkovna mutacijaTromboflebitisvenska trombozaKazalci aktivirane koagulacije pri bolnikih z vensko trombozo in mutacijo v genu za protrombim in faktor V2| Indicators of activated coagulation in patients with venous thrombosis and mutation in the genes for prothrombin and factor V2|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 asignificant geographical distribution. The prevalence of prothrombin mutationamong 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 higherconcentrations 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)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 kazalcevaktivirane koagulacije med bolniki z različnimi genotipi niso bile statistično značilne. (Izvleček skrajšan na 2000 znakov)TEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaDruštvo Medicinski razgledi