Faktör V 4070 A-G değişiminin trombozlu hastalarda incelenmesi
No Thumbnail Available
Files
Date
2010
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Biyoteknoloji Enstitüsü
Abstract
Trombosis is a multigenic disease and APC resistance is major risk factor for causing thrombosis. A common polymorphism (FVL) in the FV gene that causes a missense mutation, FV Arg506Gln, results in the loss of one activated protein cleavage site of FV and APC resistance. Recently, a complex haplotype of FV (HR2), which includes 13 different polymorphisms throughout the gene, has been reported. One of these polymorphisms is factor V 4070 A(R1) ?G(R2) substitution which also gives its name to the haplotype. Factor V with HR2 possesses decreased co-factor activity to APC in the degradation of FVIIIa and an increased ratio of the more procoagulant isoform FV1 compared to FV2. Contrasting results on whether the haplotype induces a significant risk of venous thromboembolism have been reported. There are several individuals who have FVL, a common risk factor related to thrombosis, didn? t experienced thrombosis. Contrast to R2 allele which contributed to thrombosis risk, R1 allele is thought to be protective associated with the disease and the goal of the study is to determine effects of FV 4070 A (R1) ?G(R2) substitution in patients with thrombosis.In the study, in the range of 0-18 years and 70 and over 70 years patients diagnosed with thrombosis and the same two age groups healthy controls were screened. DNA isolation was carried out with phenol-chloroform method from blood samples taken from individuals. Amplification of exon 13 of the factor V gene was performed by polymerase chain reaction (PCR) with appropriate primers. PCR products was digested with RsaI restriction endonuclease enzyme for detecting gene variation with agarose gel electrophoresis.Effects of factor V 4070 A-G substitution were determined in 0-18 and 70 and older age groups included patient and healthy individuals. Carrying R1 allele in heterozygous or homozygous state was not associated with any protective effect in thrombosis. It was found that R2 allele was not an independent risk factor for thrombosis in the same age groups and genotype states.
Description
Keywords
Faktör V 4070 A-G, tromboz