title: Factor V Leiden, prothrombin 20210G>A, MTHFR 677C>T and 1298A>C, and homocysteinemia in Tunisian blood donors.
abstract: Specific genetic conditions are known to be associated with high risk of venous thromboembolism. This genetic basis varies widely between ethnic groups. We investigated the distribution of four inherited polymorphisms in 113 unselected Tunisian blood donors by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The allele frequencies of Factor V Leiden (FVL), prothrombin 20210G>A, methylenetetrahydrofolate reductase (MTHFR) 677C>T, and MTHFR 1298A>C mutations were 3, 0.9, 30, and 31%, respectively. The MTHFR 677C>T polymorphism was influenced by age. Twenty-nine of the 113 blood donors demonstrated more than one genetic markers. Hyperhomocysteinemia was found in 12 subjects, and it was statistically associated to the MTHFR 677TT genotype. Principal component analysis allowed disclosing the resemblance between Mediterranean populations. Our findings may be helpful for population genetics study, and provide epidemiologic database for further studies in thrombosis field among Tunisians.
authors.affiliation: Laboratoire d'Hématologie et Banque du Sang, CHU Sahloul, Sousse, Tunisia.
authors.forename: Samira
authors.initials: S
authors.lastname: Hadhri
authors.forename: Mohamed Ben
authors.initials: MB
authors.lastname: Rejab
authors.forename: Hajer
authors.initials: H
authors.lastname: Guedria
authors.forename: Lamia
authors.initials: L
authors.lastname: Ifa
authors.forename: Noureddine
authors.initials: N
authors.lastname: Chatti
authors.forename: Hadef
authors.initials: H
authors.lastname: Skouri
mesh_terms: D000328:Adult; D001782:Blood Donors / Q000706:statistics & numerical data*; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D020138:Hyperhomocysteinemia / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D025341:Principal Component Analysis; D011516:Prothrombin / Q000235:genetics*; D018709:Statistics, Nonparametric; D014416:Tunisia / Q000453:epidemiology
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)