Prevalence of factor XIII VAL34LEU polymorphism in the Iranian healthy females (West Azerbaijan Province, Iran)

Factor XIII controls hemostatic, bleeding and thrombotic state. Inherited Factor XIII deficiency leads to
an increased thrombotic tendency. Present study investigates the factor XIII gene Val34Leu mutation in the Iranian Turkish healthy
females.
Materials and Methods: Totally 100 unrelated healthy Turkish females entered the study. 3-5 ml whole blood was collected in tube
containing EDTA. Salting out method was used for isolation of genomic DNA from blood samples. Dde I based RFLP-PCR was
performed to determine the factor XIII gene Val34Leu mutation in tested samples.
Results: Our results showed that frequencies of G (Val) and T (Leu) alleles, and also, G/G (Val/Val), G/T (Val/Leu) and T/T (Leu/Leu)
genotypes of factor XIII were 165(84.18%) and 31(15.82%), and also, 67(68.37%), 31(31.63%) and 0(0%) in the tested group. Factor
XIII gene Val34Leu genotypes showed an excellent fit to Hardy-Weinberg equilibrium in tested population (χ2 = 3.45 < 3.84, P-value
(with degree of freedom=2) =0.177> 0.05). In this study, factor XIII G (Val) and T (Leu) allele frequencies were 0.84 and 0.16,
respectively.
Conclusion: Our findings suggested that Factor XIII Val34Leu mutation has a very low prevalence in the tested population. These
results from the Iranian Turkish females are the first official report and could be considered as control group for studies relating the
prevalence of factor XIII gene Val34Leu mutation with human primary hemostatic, spontaneous bleeding and thrombotic disorders.