Journal of

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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.

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Introduction: Nephrotic syndrome (NS) is a genetic disease belonging to a heterogeneous group of glomerular disorders, which mainly occurs within the children. Linkage analysis using single nucleotide polymorphisms (SNP) is used as an indirect method in molecular diagnosis of the disease. A large number of SNP markers have been introduced in NPHS2gene in the available electronic databases.

Method: In the present study, the genotype and informative status of rs2274625 marker in NPHS2 genewas investigated in 120 unrelated healthy individuals using Tetra-primer ARMS PCR technique and newly designed primers. Allelic frequency and presence of Hardy Weinberg Equilibrium (HWE) was estimated using GenePop website. Furthermore, PowerMarker software was utilized in order to compute the index of polymorphism information content (PIC).

Results: The study results indicated allele frequency of 97% and 3% for C and T alleles, respectively, in regard with rs2274625 marker within Isfahan population. Moreover, the PIC for the rs2274625 marker was 0.5%, and HWE revealed the equilibruim of the study population in regard with the related marker.

Conclusion: As the study findings indicated, rs2274625 could be introduced as an SNP marker in the linkage analysis in order to molecularly trace NPHS2 gene mutations in molecular NS diagnosis in Isfahan population as a representative sample of the Iranian population.