Genetic linkage analysis of DFNB40 and DFNB48 loci in families with autosomal recessive non-syndromic hearing loss (ARNSHL) from western provinces of Iran

Pourahmadiyan, Azam. and Tabatabaiefar, Mohammad Amin. and Reiisi, Somayeh. and Alipour, Paria. and Fattahi, Najmeh. and Hashemzadeh-Chaleshtori, Morteza. (2016) Genetic linkage analysis of DFNB40 and DFNB48 loci in families with autosomal recessive non-syndromic hearing loss (ARNSHL) from western provinces of Iran. Journal of Isfahan Medical School, 34 (374).

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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.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: Autosomal recessive non-syndromic hearing loss, DFNB40 locus, DFNB48 locus
Subjects: QU Biochemistry
WV Otolaryngology
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: Users 1 not found.
Date Deposited: 10 Jul 2017 08:39
Last Modified: 15 Apr 2018 09:39
URI: http://eprints.skums.ac.ir/id/eprint/919

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