The contribution of autosomaul recessive non-syndromic deafness to DFNB59 mutations (Pejvakin)

AUTHORS

Marzieh Abolhasani 1 , Effat Farrokhi 2 , Mohsen Noorbakhsh 3 , Maryam Taherzadeh 2 , Fatemeh Azadegan 1 , Azam Asgari 4 , Morteza Hashmzadeh 5 , *

1 BSc of Genetic, Cellular and Molecular Research Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.

2 MSc of Biochemistery, Cellular and Molecular Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.

3 Medical Student, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.

4 MSc of Animal Physiology, Plant Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran

5 Professor of Human Genetics, Cellular and Molecular Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.

How to Cite: Abolhasani M, Farrokhi E, Noorbakhsh M, Taherzadeh M, Azadegan F, et al. The contribution of autosomaul recessive non-syndromic deafness to DFNB59 mutations (Pejvakin), Zahedan J Res Med Sci. 2010 ; 12(3):e94295.

ARTICLE INFORMATION

Zahedan Journal of Research in Medical Sciences: 12 (3); e94295
Published Online: August 26, 2010
Article Type: Research Article
Received: February 27, 2010
Accepted: July 17, 2010
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Abstract

  Background : Hearing loss is a common disorder affecting millions of individuals worldwide with opproximately 1 in 1000 newborns. A novel gene, DFNB59 encods Pejvakin has been recently shown to cause neural deafness. The aim of this study was to determine the frequency of DFNB59 gene mutations in 93 deaf pupils in Sistan & Baluchestan province.

  Materials and Method : We investigated the frequency of DFNB59 gene mutations in the coding regions (exons 2-7) of the gene.DNA was extracted following the standard phenol chloroform procedure , the frequency of DFNB59 gene mutations was investigated using PCR-SSCP /HA strategy.

  Results : No pathogenic variant was detected in samples studied. However, one polymorphism including 793C>G was determined in 3 of 93 (3.2%) subject examined.

  Conclusion : The results of this study showed no association between DFNB59 gene mutations and hearing loss in Sistan va Baluchestan province

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  • © 2010, Zahedan Journal of Research in Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
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