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Genetic linkage analysis of DFNB9 locus with autosomal recessive hearing loss in Khuzestan province
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Parisa Tahmasebi1    , Mohammad Amin Tabatabaiefar2 |
1- Ilam University , p.tahmasbi@ilam.ac.ir
2- Isfahan University of Medical Sciences |
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Abstract: (30 Views) |
Background and Aim: Hearing loss is the most common sensory defect in humans. The disease is because of environmental and genetic factors that in more than %50, it is related to the 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). The aim of this study is to investigate the role of DFNB9 locus in causing hearing loss in a group of families with ARNSHL in Khuzestan province.
Materials and Methods: This study was done on 22 ARNSHL families with at least 4 hearing loss and negative individuals for GJB2 mutations in Khuzestan province. Linkage analysis was performed by using the STR (Short Tandem Repeat) markers that were related to 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 DFNB9 locus.
Conclusion: Based on the results of the present study, the role of DFNB9 locus in causing hearing loss in Khuzestan province is similar to other studies conducted in the country and should be considered along with other important loci in the hearing loss panel.
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| Keywords: Hearing loss, DFNB9 locus, Short Tandem Repeat, Genetic Linkage Analysis. |
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Type of Study: Original Research |
Subject:
Molecular Medicine and Genetics
Received: 2022/05/27 | Accepted: 2023/02/1
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