title: Molecular analysis of factor V Leiden, factor V Hong Kong, factor II G20210A, methylenetetrahydrofolate reductase C677T, and A1298C mutations related to Turkish thrombosis patients.
abstract: Inherited gene disorders related to the hemostatic system have been documented as risk factors for thrombosis. The roles of factor V Hong Kong (FV Hong Kong), factor V Leiden (FV Leiden), factor II G20210A (FII G20210A), methylenetetrahydrofolate reductase (MTHFR) C677T, and MTHFR A1298C mutations in Turkish patients with thrombosis (270 patients) compared with healthy controls (114 subjects) were evaluated. Polymerase chain reaction-based restriction enzyme analysis was carried out to screen these mutations, and single-strand conformation analysis was established to identify variations using the primers selected for restriction enzyme analysis studies. As a result, a significant relationship was determined among FV Leiden, FII G20210A, and thrombosis. The FV Hong Kong mutation was observed in only 2 patients with pulmonary vein thrombosis who are FV Leiden/FV Hong Kong compound heterozygous for FV gene. MTHFR C677T and A1298C were equally distributed in the patient group compared with the control group. All named mutations were also identified with single-strand conformation analysis, but a new variant/polymorphism during studies was not found. Because some inherited abnormalities are associated with thromboembolic disorders, determining the mutations and gene-to-gene interactions in patients with thrombosis history has a great impact on diagnosis and treatment of these diseases.
authors.affiliation: Department of Molecular Biology and Genetics, Istanbul University, Istanbul, Turkey. bilgen@duzen.com.tr
authors.forename: Bilgen
authors.initials: B
authors.lastname: Dölek
authors.forename: Serpil
authors.initials: S
authors.lastname: Eraslan
authors.forename: Sevim
authors.initials: S
authors.lastname: Eroğlu
authors.forename: Belgin Eroglu
authors.initials: BE
authors.lastname: Kesim
authors.forename: Turgut
authors.initials: T
authors.lastname: Ulutin
authors.forename: Altan
authors.initials: A
authors.lastname: Yalçiner
authors.forename: Yahya R
authors.initials: YR
authors.lastname: Laleli
authors.forename: Nermin
authors.initials: N
authors.lastname: Gözükirmizi
mesh_terms: D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D014421:Turkey; D020246:Venous Thrombosis / Q000097:blood* / Q000201:enzymology / Q000235:genetics*
chemical_list: C403771:factor V Hong Kong; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)