Genetic Linkage Analysis of Autosomal Recessive Non Khuzestan Province the DFNB9 Locus with-Syndromic Hearing Loss in

Abstract

Background and Aim: Hearing loss is the most common sensory defect in humans. The disease is due to environmental and genetic factors, with more than 50 attributable to genetic factors. The genetic hearing loss is divided into non-syndromic and syndromic types. More than 70 of cases of hereditary hearing loss are non-syndromic hearing loss (NSHL), whose main pattern of inheritance (80 of cases) is autosomal recessive (ARNSHL). This study aims to investigate the role of the DFNB9 locus in causing hearing loss among families with ARNSHL in Khuzestan province. Materials and Methods: This study was conducted among 22 ARNSHL families with at least 4 hearing-loss cases and no GJB2 mutations in Khuzestan province. Linkage analysis was performed by using the STR (Short Tandem Repeat) markers that were related to the DFNB9 locus. The genotype of each family was determined by the Polyacrylamide Gel Electrophoresis method. Moreover, the haplotype was drawn, and the LOD score was calculated. Results: Linkage analysis and haplotype assessment showed that 1 family (4.5) was linked to the DFNB9 locus. Conclusion: Based on the results of the present study, the role of the DFNB9 locus in causing hearing loss in Khuzestan province is similar to that reported in other studies conducted in the country and should be considered alongside other important loci in the hearing loss panel. © 2026 Scientific Journal of Kurdistan University of Medical Sciences. This is an open-access article distributed the terms of the Creative Commons Attribution-NonCommercial 4.0 International License.