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Mitochondrial gene mutation screening in hearing loss patients, Hormozgan, Iran

AUTHORS

Azam Asghari 1 , Mostafa Montazer Zohori 2 , Effat Farrokhi 3 , Golandam Banitalebi Dehkordi 4 , Marziyeh Abolhasani 5 , Fatemeh Azadeghan 5 , Mojtaba Saeedi Morghmaleki 4 , Azam Hoseinipor 6 , Sousan Keshavarz 6 , Kourosh Ashrafi 7 , Fatemeh Taji 8 , Morteza Hashemzadeh Chaleshtori 9 , *

1 Master of Physiology, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences , Shahrekord, Iran.

2 PhD Student of Medical Genetics, School of Medical Sciences – Tarbiat Modares University Tehran, Tehran, Iran.

3 Master of Biochemistry, Cellular & Molecular Research Center Shahrekord University of Medical Sciences, Shahrekord, Iran.

4 BSc of Laboratory Sciences, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

5 BSc of Genetics, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

6 General Practitioner, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

7 Master of Microbiology, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

8 Master of Physiology, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

9 Professor of Human Genetics, Cellular & Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

How to Cite: Asghari A, Montazer Zohori M, Farrokhi E, Banitalebi Dehkordi G, Abolhasani M, et al. Mitochondrial gene mutation screening in hearing loss patients, Hormozgan, Iran, Hormozgan Med J. 2011 ; 15(1):e88373.

ARTICLE INFORMATION

Hormozgan Medical Journal: 15 (1); e88373
Published Online: June 28, 2010
Article Type: Research Article
Received: October 31, 2009
Accepted: June 28, 2010

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Abstract

Introduction: Hearing loss is the most frequent sensory disorder occurs in 1/1000
newborns. About 50% of hearing loss cases are due to genetic causes. Mutation in
MTRNR1(A1555G), MTTL1(A3243G) and MTTS1(A7445G) are known to be one of the
important cause of nonsyndromic Sensorineural hearing loos in some populations. This
study aims to demonstrate the frequency of three mitochondrial mutations including
A1555G, A7445G and A3243G in deaf subjects in Hormozgan province.
Methods: We investigated the presence of three mitochondrial mutations including
A1555G، A3243G and A7445G in a cohort of 110 nonsyndromic Sensorineural hearing loss
subjects. DNA was extracted using standard phenol – chloroform method. The screening of
gene mutations was performed by PCR-RFLP procedure. Finally, the possible mutations
were confirmed by direct sequencing.
Results: None of the 110 subjects were found to carry A1555G, A3243G and A7445G
mutations. However, PCR-RFLP of the MTTL1 gene destroyed a restriction site due to
G3316A substitution in a deaf subject.
Conclusion: We found that the association of A1555G، A3243G and A7445G mutations
with hearing loss in Hormozgan is negligible.

Keywords

Deafness – Mutation – Autosomal Recessive

© 2011, Hormozgan Medical Journal. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

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