DFNB59 Gene Mutations and its Association with Deafness in Schoolchildren in Kohgilooyeh & Boyerahmad Province
Introduction & Objective: Hearing loss is a common disease affecting millions of people worldwide. Hearing loss can be caused due to genetic or environmental factors or even both. The genetic of hearing defect is highly heterogeneous and more than 100 genes are predicted to cause this disorder i...
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Format: | Article |
Language: | fas |
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Yasuj University Of Medical Sciences
2010-01-01
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Series: | Armaghane Danesh Bimonthly Journal |
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Online Access: | http://armaghanj.yums.ac.ir/browse.php?a_code=A-10-1-420&slc_lang=en&sid=1 |
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author | M Taherzadeh Ghahfarrokhi E Farrokhi A Shirmardi S Ghasemi M Abolhasani F Azadegan S Reisi M Reisi G Banitalebi M Hashemzadeh Chaleshtori |
author_facet | M Taherzadeh Ghahfarrokhi E Farrokhi A Shirmardi S Ghasemi M Abolhasani F Azadegan S Reisi M Reisi G Banitalebi M Hashemzadeh Chaleshtori |
author_sort | M Taherzadeh Ghahfarrokhi |
collection | DOAJ |
description | Introduction & Objective: Hearing loss is a common disease affecting millions of people worldwide. Hearing loss can be caused due to genetic or environmental factors or even both. The genetic of hearing defect is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. A newly identified gene (DFNB59) has been shown to cause deafness in some populations. Here we report mutation analysis for DFNB59 gene in 88 genetic non-syndromic hearing loss subjects.
Materials & Methods: In this descriptive-lab based study which was conducted at the Cellular and Molecular Research Center of Shahrekord University of Medical Sciences, DNA was extracted from the peripheral blood samples using standard phenol chloroform procedure. Mutation analysis for DFNB59 gene was performed using PCR-SSCP/HA protocol. The suspected DFNB59 which was detected as shifted bands on PAGE were then confirmed by direct sequencing strategy.
Results: Two DFNB59 polymorphisms including c.793C>G and c.793C>T were detected in 8 and 1 deaf subjects respectively.
Conclusion: We conclude that there is no association between DFNB59 mutations and deafness in the studied patients in the region. |
first_indexed | 2024-04-12T02:50:49Z |
format | Article |
id | doaj.art-89666889db4949f2a16866dcc1efa135 |
institution | Directory Open Access Journal |
issn | 1728-6506 1728-6514 |
language | fas |
last_indexed | 2024-04-12T02:50:49Z |
publishDate | 2010-01-01 |
publisher | Yasuj University Of Medical Sciences |
record_format | Article |
series | Armaghane Danesh Bimonthly Journal |
spelling | doaj.art-89666889db4949f2a16866dcc1efa1352022-12-22T03:51:00ZfasYasuj University Of Medical SciencesArmaghane Danesh Bimonthly Journal1728-65061728-65142010-01-011443139DFNB59 Gene Mutations and its Association with Deafness in Schoolchildren in Kohgilooyeh & Boyerahmad ProvinceM Taherzadeh Ghahfarrokhi0E Farrokhi1A Shirmardi2S Ghasemi3M Abolhasani4F Azadegan5S Reisi6M Reisi7G Banitalebi8M Hashemzadeh Chaleshtori9 Introduction & Objective: Hearing loss is a common disease affecting millions of people worldwide. Hearing loss can be caused due to genetic or environmental factors or even both. The genetic of hearing defect is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. A newly identified gene (DFNB59) has been shown to cause deafness in some populations. Here we report mutation analysis for DFNB59 gene in 88 genetic non-syndromic hearing loss subjects. Materials & Methods: In this descriptive-lab based study which was conducted at the Cellular and Molecular Research Center of Shahrekord University of Medical Sciences, DNA was extracted from the peripheral blood samples using standard phenol chloroform procedure. Mutation analysis for DFNB59 gene was performed using PCR-SSCP/HA protocol. The suspected DFNB59 which was detected as shifted bands on PAGE were then confirmed by direct sequencing strategy. Results: Two DFNB59 polymorphisms including c.793C>G and c.793C>T were detected in 8 and 1 deaf subjects respectively. Conclusion: We conclude that there is no association between DFNB59 mutations and deafness in the studied patients in the region.http://armaghanj.yums.ac.ir/browse.php?a_code=A-10-1-420&slc_lang=en&sid=1Deafness DFNB59 PCR-SSCP Heteroduplex Analysis. |
spellingShingle | M Taherzadeh Ghahfarrokhi E Farrokhi A Shirmardi S Ghasemi M Abolhasani F Azadegan S Reisi M Reisi G Banitalebi M Hashemzadeh Chaleshtori DFNB59 Gene Mutations and its Association with Deafness in Schoolchildren in Kohgilooyeh & Boyerahmad Province Armaghane Danesh Bimonthly Journal Deafness DFNB59 PCR-SSCP Heteroduplex Analysis. |
title | DFNB59 Gene Mutations and its Association with Deafness in Schoolchildren in Kohgilooyeh & Boyerahmad Province |
title_full | DFNB59 Gene Mutations and its Association with Deafness in Schoolchildren in Kohgilooyeh & Boyerahmad Province |
title_fullStr | DFNB59 Gene Mutations and its Association with Deafness in Schoolchildren in Kohgilooyeh & Boyerahmad Province |
title_full_unstemmed | DFNB59 Gene Mutations and its Association with Deafness in Schoolchildren in Kohgilooyeh & Boyerahmad Province |
title_short | DFNB59 Gene Mutations and its Association with Deafness in Schoolchildren in Kohgilooyeh & Boyerahmad Province |
title_sort | dfnb59 gene mutations and its association with deafness in schoolchildren in kohgilooyeh boyerahmad province |
topic | Deafness DFNB59 PCR-SSCP Heteroduplex Analysis. |
url | http://armaghanj.yums.ac.ir/browse.php?a_code=A-10-1-420&slc_lang=en&sid=1 |
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