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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Main Authors: M Taherzadeh Ghahfarrokhi, E Farrokhi, A Shirmardi, S Ghasemi, M Abolhasani, F Azadegan, S Reisi, M Reisi, G Banitalebi, M Hashemzadeh Chaleshtori
Format: Article
Language:fas
Published: Yasuj University Of Medical Sciences 2010-01-01
Series:Armaghane Danesh Bimonthly Journal
Subjects:
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.
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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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