Relationship Between Elevated FVIII Level and 3' UTR Variations of F8 Gene in Turkish Patients with Venous Thrombosis
Journal Title: Artuklu International Journal of Health Sciences - Year 2022, Vol 2, Issue 1
Abstract
Objective: Venous Thrombosis (VT) is an important medical disorder caused by genetic and environmental factors. This study investigated the sequence variants in the 3' untranslated region (UTR) of Factor 8 gene in 30 patients with high FVIII plasma levels and 30 healthy individuals with normal FVIII plasma levels. Materials and Methods: The plasma levels of FVIII protein were measured in blood samples using the Static Timing Analyze Kit. The 3' UTR region of F8 gene was amplified by PCR using 6 primers pairs. Single strand conformation analysis (SSCA) and DNA sequencing analysis were carried out for determination of the sequence variants. Results: While the FVIII protein level was 200 ± 64 IU / dl in patients, it was detected as 120 ± 32 IU / dl in controls. In the 3 'UTR of the F8 gene were observed different SSCA patterns of some individuals and nucleotide change rs1050705 of the F8 gene. Therefore, we did not find a significant relationship between sequence variants in 3' UTR of F8 gene and elevated FVIII levels. Conclusions: VT does not seem to be associated with the sequence variant in 3' UTR of the F8 gene but small-scale studies will draw attention to studies on the 3' UTR regions of the genes to elucidate complex disorders such as venous thrombosis.
Authors and Affiliations
Mustafa Ay
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