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

Marzieh Abolhasani; Effat Farrokhi; Mohsen Noorbakhsh; Maryam Taherzadeh; Fatemeh Azadegan; Azam Asgari; Morteza Hashmzadeh

Zahedan Journal of Research in Medical Sciences

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

Author(s):

Marzieh Abolhasani¹,

Effat Farrokhi²,

Mohsen Noorbakhsh³,

Maryam Taherzadeh²,

Fatemeh Azadegan¹,

Azam Asgari⁴,

Morteza Hashmzadeh^5,*

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

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

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

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

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

Zahedan Journal of Research in Medical Sciences:Vol. 12, issue 3; e94295

Published online:Aug 26, 2010

Article type:Research Article

Received:Feb 27, 2010

Accepted:Jul 17, 2010

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

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

Keywords

PCR-SSCP

heteroduplex analysis

pejvakin

deafness

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