DFNB59 Gene Mutation Screening Using PCR-SSCP/HA Technique in Non-syndromic Genetic Hearing Loss in Bushehr Province

Background: Hearing impairment (HI) is the most prevalent Neurosensory disorder which is heterogenous and can also occur due to environmental causes. The majority of hearing deficiencies are of genetic origin affecting about 60% of the HI cases. A novel gene DFNB59 encodes pejvakin has been recently...

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Bibliographic Details
Published in:	Ṭibb-i junūb Vol. 13; no. 3; pp. 163 - 170
Main Authors:	Fatemeh Azadegan Dehkordi, Effat Farrokhi, Mostafa Montazer Zohouri, Gholamreza Mobini, Maryam Taherzadeh, Marzieh Raiesi, Gol andam Banitalebi, Somaieh Raiesi, Mehdi Banitalebi, Morteza Hashemzadeh Chaleshtari
Format:	Journal Article
Language:	English
Published:	Bushehr University of Medical Sciences 01-09-2010
Subjects:	DFNB59 gene hearing impairment hetero duplex analysis pejvakin polymorphism single- strand conformation polymorphism
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Summary:	Background: Hearing impairment (HI) is the most prevalent Neurosensory disorder which is heterogenous and can also occur due to environmental causes. The majority of hearing deficiencies are of genetic origin affecting about 60% of the HI cases. A novel gene DFNB59 encodes pejvakin has been recently shown to cause deafness. This study aims to determine the frequency of DFNB59 gene mutations in coding region the gene in Bushehr province. Methods: In this descriptive experimental study, we investigated the presence of DFNB59 gene mutations in Exons (2-7) of the gene in 80 deaf subjects. DNA was extracted using standard phenol –chloroform method. The screening of gene mutations was performed by PCR-SSCP/HA procedure. Finally, the possible mutations were confirmed by direct sequencing. Results: In all, 9 polymorphisms 793C>G were found in 80 non-syndromic, genetic hearing loss subjects studied. However no DFNB59 gene mutation was identified. Conclusion: We conclude that the association of DFNB59 gene mutations with hearing loss is very low in samples studies
ISSN:	1735-4374 1735-6954