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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.

Background and aims: Hearing loss is a common sensorial disorder. There are approximately 360 million affected people all over the world. More than 50% of hearing loss is because of genetics factors. About 70% of inherited hearing loss is due to non-syndromic hearing impairment that Autosomal- recessive inheritance is responsible for about 80% of cases. Autosomal recessive non syndromic hearing loss is very heterogeneous and more than 50 genes have been identified for it. The aimof this study was to investigate the role of DFNB42 (ILDR1) and DFNB35 (ESRRB) mutations in 25 families with ARNSHL from Khuzestan Iran. Methods: This descriptive study was based on linkage analysis and selected 6 STR markers for each locus. This study was performed for 300 individuals from 25 families that had at least two affected, also they had consanguineous marriage. In this study, it was investigated mutations of GJB2 and 3 families with positive result for mutation in GJB2, were excluded from our study. Results: With linkage analysis, none of selected families was linked to DFNB35 or DFNB42 loci. This study showed that the ILDR1 and ESRRB mutations have no role in hearing loss in studied families. Conclusion: This study shows that mutations in ILDR1 and ESRRB genes have no important role in incidence of hearing loss in Khuzestan province. This result suggests that studying of other loci that are involved in deafness, can be helpful to identify genetic causes in this disease in the studied population. [ABSTRACT FROM AUTHOR]

Background and aims: Hearing loss, a sensorineural disorder, is one of the most common congenital impairments, occurring in approximately 1 in 500 newborns. Hearing loss is a highly heterogenic disease and half of the cases of deafness are attributed to genetic causes; environmental and unknown factors account for the remainder. Non-syndromic type forms 70% of hearing loss cases. Pattern of inheritance of nearly 80% of this type of HL is recessive autosomal. Iranian population provides a valuable genetic resource to study this kind of HL because of high ratio of consanguinity. In this study, genetic linkage of DFNB48 (CIB2) and DFNB98 (TSPEAR) is investigated in families with ARNSHL impairment from Khouzestan province. Methods: In this descriptive study 300 individuals of 25 families with hearing loss were examined in order to determine type and frequency of mutation of DFNB48 and DFNB98 loci in Khouzestan province. Families' selection had some criteria. Families with healthy parents, consanguineous marriage and negative result for mutations of GJB2 gene with at least two affected individuals were selected. 3 families which were detected positive for mutations of GJB2 gene were excluded from study. Linkage analysis was done for 22 families by using six STR markers which were located in or were tightly linked to each locus. Results: None of these families inspected by linkage analysis was linked to the DFNB48 or DFNB98 loci. Conclusion: Considering these results it seems that CIB2 and TSPEAR genes mutations have not important roles in hearing loss in Khouzestan province. [ABSTRACT FROM AUTHOR]

Objective: Congenital hearing loss occurs in 1 out of 1000 births and about 50% of all cases are estimated to be of genetic origin. About 70% of hereditary hearing loss is non-syndromic with autosomal recessive inheritance accounting for 80% of the genetic load. To assess the importance of other loci in the Iranian population, we screened 50 consanguineous families with ARNSHL for DFNB21, which was linked to ARNSHL in Middle East countries. Materials & Methods: 50 consanguineous families with at least three affected children, previously excluded by mutational analysis from GJB2 and GJB6 genes, were included in this study. We used three polymorphic markers including D11S1998, D11S4464, and D11S1299 in this study. Results: Two families were linked to DFNB21 and two novel mutations have been detected so far. In two families a 266 Del T mutation and a large 9611bp deletion that starts from intron 9 and includes exon 10 in TECTA gene were detected. Conclusion: This study showed that mutations in DFNB21 locus are the most common cause of ARNSHL in Iranian population. It seems that DFNB21 may play an important role in genetic load of ARNSHL in Iran. This will be confirmed by screening more families for this locus in Iranian deaf population.