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Genetic Linkage Analysis of Dfnb40 and Dfnb48 Loci in Families With Autosomal Recessive Non-Syndromic Hearing Loss (Arnshl) From Western Provinces of Iran



Pourahmadiyan A1 ; Tabatabaiefar MA2 ; Reiisi S3 ; Alipour P1 ; Fattahi N1 ; Hashemzadehchaleshtori M4
Authors
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Authors Affiliations
  1. 1. Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran
  2. 2. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Department of Genetics, School of Science, Shahrekord University, Shahrekord, Iran
  4. 4. Cellular and Molecular Research Center, School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran

Source: Journal of Isfahan Medical School Published:2016

Abstract

Background: Sensorineural hearing loss (SNHL) is the most common sensory disorder and 1 in every 500-1000 newborns is affected. Non-syndromic SNHL accounts for 70% of hereditary hearing loss and 80% of SNHL cases have an autosomal recessive mode of inheritance (ARNSHL). The Purpose of the recent study is genetic linkage analysis to determine the prevalence of DFNB40 and DFNB48 loci in studying families with ARNSHL from the western provinces of Iran. Methods: In this study, 60 families from 3 provinces of Iran involving Hamedan, Kohgiluyeh and Boyer-Ahmad and Chaharmahal and Bakhtiari with autosomal recessive non syndromic hearing loss were examined. The selected families in this study were consanguineous and had at least two patients. They also were negative for GJB2 mutations. Linkage analysis was performed by using 6 markers short tandem repeat (STR) for the DFNB40 locus and 7 markers STR for the DFNB48 locus. Findings: After examining different families, it was revealed that none of them showed linkage to the DFNB40 and DFNB48 loci. Conclusion: The recent study suggests that DFNB40 and DFNB48 loci might not play an important role in causing hearing loss in the mentioned provinces. However, further studies are necessary to determine more precisely the role of these loci in the Iranian population. © 2016, Isfahan University of Medical Sciences(IUMS). All rights reserved.
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