Background: Hemophilia A is an X-linked bleeding disorder caused by heterogenous mutations in factor VIII gene that encodes coagulation factor VIII (F8) protein. Due to the high heterogeneity of mutations, large size (186 kb) and structural complexity of the F8 gene, direct mutation analysis is costly and time consuming. Alternatively, linkage analysis using informative polymorphic markers such as single nucleotide polymorphism (SNP) markers has been introduced as a rapid and cost effective method for hemophilia A carrier detection in families with an affected individual. Several SNP markers associated with the F8 gene region have been studied.

Materials and Methods: In this exprimental study, the characteristics of A/T SNP (rs4898352) as an informative marker located in intron 18 of F8 gene region was investigated in Isfahanin population. rs4898352 marker was genotyped using tetra primer ARMS PCR method followed by agarose gel electrophoresis in 140 unrelated control healthy females in mentioned population. New primers were designed for rs4898352 marker using the oligo 7 software. The allele frequency, degree of heterozygosity and Hardy-Weinberg equilibrium were estimated by use of Genepop program. The polymorphism information content (PIC) value was estimated using the Powermarker software.

Results:  The results showed that the allele frequency of rs4898352 polymorphism for A and T alleles was 0.482 and 0.518, respectively. The observed heterozigosity rate was 60%. Analysis of Hardy-Weinberg Equilibrium demonstrated that the Isfahan population was in equilibrium (p>0.05) for rs4898352 marker. Moreover, analysis of PIC value revealed that this marker could be considered as a highly informative marker in the mentioned population.

Conclusion: Together, the data suggested that rs4898352 could be introduced as an informative marker for molecular diagnosis of hemophilia A in Isfahan Population