Molecular investigation of mtDNA A1555G, A3243G and A7445G mutations among the non syndromic hearing loss cases in Fars, Iran

Reisi, S. and Atai, Z. and Abolhasani, M. and Kasiri, M. and Akbari, M.T. and Heidari, S. and Montazer Zohouri, M. and Farrokhi, E. and Shirmardi, A. and Banitalebi, G. (2011) Molecular investigation of mtDNA A1555G, A3243G and A7445G mutations among the non syndromic hearing loss cases in Fars, Iran. Feyz Journal of Kashan University of Medical Sciences, 14.

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Official URL: http://feyz.kaums.ac.ir/article-1-1040-en.html
DOI: UNSPECIFIED

Abstract

Background: Hearing loss is a sensorineural disorder occuring in 1 out of 500 births. It happens due to some genetic/environmental causes or both. More than 60 of cases are noninherited and 80 non syndromic with autosomal recessive inheritance. In the present study we investigated the frequency of mtDNA A1555G, A3243 and A7445G mutations among the patients in Fars province.Materials and Methods: Seventy two non syndromic hearing loss subjects were studied. DNA was extracted using standard phenol-chloroform method. The screening of the mitochondrial gene mutations were performed using PCR-RFLP procedure. Finally, the possible mutations were confirmed by direct sequencing. Results: None of the A1555G, A3243G and A7445G mutations was detected in this study. However, destroying a MTTL1 restriction site for the investigation of A3243G mutation, revealed a G3316A with allelic variant of 1.4 in the deaf subjects. Conclusion: Our data indicated that the mitochondrial A1555G, A3243 and A7445G mutations have no role in auditory deficits in patients studied.

Item Type: Article
Subjects: Medicine
Divisions: Feyz journal
Depositing User: ART . editor
Date Deposited: 10 May 2017 13:06
Last Modified: 21 May 2017 17:23
URI: http://eprints.kaums.ac.ir/id/eprint/1966

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