Naslov
Frequency of genetic mutations in coagulation risk factors of thrombosis in patients from Eastern Croatia

Autori
Marczi, Saška ; Tokić, Stana ; Mihaljević, Ivan ; Karner, Ivan ; Lenz, Bahrija ; Glavaš-Obrovac, Ljubica

Izvornik
Acta clinica Croatica. Supplement (0353-9474) 46 (2007); 72-72

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, sažetak, znanstveni

Ključne riječi
genetic mutations ; thrombosis

Sažetak
Introduction: The most significant genetic mutations in coagulation risk factors of thrombosis are factor V G1691A mutation (FV- Leiden), factor II (prothrombin) G20210A mutation, methylenetetrahydrofolate reductase (MTHFR) C677T mutation and plasminogen activator inhibitor-1 (PAI-1) 4G polymorphysm. Indicated gene mutations are associated to significantly increased risk of thrombosis, which is additionally magnified if mutation carriers are homozygous or if they carry several mutations simultaneously. Aim: The aim of this study was to determine the frequency of indicated changes in genes of 4 coagulation risk factors of thrombosis, within the group of patients with suspected thrombosis. Materials and methods: Factor V-Leiden, prothrombin, MTHFR and PAI-1 polymorphisms were detected by real-time polymerase chain reaction (real-time PCR) method using commercial kits and LightCycler equipment. Detection was based on "fluorescence resonance energy transfer" (FRET) technology and melting curve analysis of PCR products. Results: Analysis of 259 patients (67 male, 192 female) revealed (41/245) 16.73% of individuals heterozygous for FV-Leiden mutation, (18/234) 7.69% heterozygous for FII G20210A, (45/140) 32.14% homozygous for PAI-1 4G/4G genotype, (69/140) 49.29% heterozygous for PAI-1 4G/5G genotype, (38/228) 16.67% homozygous for MTHFR C677T and (92/228) 40.35% MTHFR heterozygous patients. Conclusion: Obtained results of frequency distribution of coagulation risk factors of thrombosis gene polymorphisms are in good concordance with clinical findings in tested thrombophilic population.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

Napomena
Abstract of the Scientific Syposium with International Participation "40 Years of Nuclear Medicine in Osijek", November 15 - 17, 2007. Osijek, Croatia.

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