Frequency of genetic mutations in coagulation risk factors of thrombosis in patients from Eastern Croatia (CROSBI ID 740578)
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Podaci o odgovornosti
Marczi, Saška ; Tokić, Stana ; Mihaljević, Ivan ; Karner, Ivan ; Lenz, Bahrija ; Glavaš-Obrovac, Ljubica
engleski
Frequency of genetic mutations in coagulation risk factors of thrombosis in patients from Eastern Croatia
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.
genetic mutations ; thrombosis
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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Podaci o prilogu
72-72.
2007.
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objavljeno
Podaci o matičnoj publikaciji
Acta clinica Croatica. Supplement
0353-9474
Podaci o skupu
Nepoznat skup
ostalo
29.02.1904-29.02.2096