Molecular Detection of Exon 10 Mutations in Factor V Gene In Sudanese Deep Vein Thrombosis by DNA Sequencing

Abstract

This descriptive cross-sectional case study was conduct among Sudanese patients with deep vein thrombosis to screen the presence of the most common mutations in exon 10 of factor V gene in patients of deep vein thrombosis, by DNA Sequencing, in period from August to October 2018. 30 samples were collected from previously diagnosed deep vein thrombosis patients from Omdurman teaching hospital in (3ml) EDTA anticoagulant. Then DNA was extracted by using Guanidine chloride method. Exon 10 was amplified by PCR technique using specific primer. Fifteen samples were sequenced by BGI Company in both strands. Sequences were analyzed by different bioinformatics tools, (Finch TV, BLST, Codon code alignment). The result showed no existence of factor V Leiden mutations among all subject of study, and presence of missense variant Rs6020 (A/G). In conclusion, the variant associated with coagulopathy and osteonecrosis of femoral head in Chinese patients, but exact role in the pathogenicity of DVT in Sudan remain to be identified.