Detection of Exon 10 Mutation (rs6020) in Factor V Gene in Sudanese patients with Deep Vein Thrombosis

Abstract

Abstract Background: Deep vein thrombosis (DVT), a subgroup of venous thromboembolism (VTE), is one of the leading causes of morbidity and mortality globally, accounting for 60,000-100,000 fatalities per year. It affects around 0.1 percent of the population each year. In Sudanese patients with DVT, this study looked for probable harmful single nucleotide polymorphisms in exon 10 of the factor V gene. Method: Thirty blood samples were obtained from previously diagnosed DVT patients at Omdurman teaching hospital throughout the period of 16 August to 25 October 2018, as part of a descriptive cross-sectional research in Khartoum state. Exon 10 was amplified by PCR using sequence-specific primers after DNA was extracted using the guanidine chloride procedure. The fifteen best bands' PCR products were sequenced in both directions (BGI Company). Bioinformatics techniques were used to examine the sequences (Finch TV, BLAST, and Codon Code alignment). Result: The presence of a missense mutation (rs6020) in the factor V Leiden gene was discovered in 40% (6/15) of the patients in this investigation. In five cases, this mutation was heterozygous, whereas in one patient, it was homozygous. In the other nine cases, no mutations were found. Conclusion: rs6020 is more prevalent in the Sudanese population than other types of mutations. rs6020 polymorphism has a strong association with deep vein thrombosis in the Sudanese population. Further investigation of this mutation amongst larger Sudanese population is required in order to support this finding as well as to understand its clinical significance.