Introduction: Hemophilia B is an X-linked recessive genetic disease caused by mutations in the coagulation Factor IX gene. Mutations in the Factor IX gene result in dysfunction or deficiency of coagulation factor of IX. Direct mutation analysis involves the ideal method for molecular diagnosis of the disease. However, due to the high number of identified mutations in the gen, the lack of a common mutation spectrum, the large size of the gene, and the heterogeneous nature of its mutations, direct mutation analysis is regarded expensive and time-consuming. Alternatively, indirect investigation of the mutations by use of linkage analysis applying polymorphic markers present in the factor IX gene region could be considered as an appropriate approach for prenatal diagnosis and carrier detection of haemophilia B. Methods: In the present study the single nucleotide polymorphic marker rs438601 in the intron 3 of factor IX gene was genotyped by Tetra-primer ARMS-PCR method with newly desingd specific primers on 142 unrelated control females in the Isfahan (a city in Iran) population. Then the allele frequency and degree of heterozygosity were estimated utilizing GENEPOP program. Moreover, χ2 test was applied in order to investigate the Hardy-Weinberg equilibrium. Results: Allele frequency was reported as 71.83% and 28.17%, respectively for C and G alleles. Observed heterozygosity was 53.52% and Analysis of deviations from Hardy-Weinberg equilibrium demonstrated that the Isfahanian population were in equilibrium for rs438601 marker. Conclusion: The study findings demonstrated that rs438601 marker due to high heterozygosity could be suggested as an appropriate diagnostic marker in linkage analysis and carrier detection of hemophilia B in regard with a sample of Iranian population.

Keywords: Factor IX Gene, Hemophilia B, Isfahan Population

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