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Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss
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Seyyed Hossein Taghizadeh   1, Seyyed Reza Kazeminezhad2 , Seyyed Ali Asghar Sefidgar3 , Nasrin Yazdanpanahi4 , Mohammad Amin Tabatabaeifar5 , Ahmad Yousefi6 , Seyyed Mohammad Lesani7 , Marziyeh Abolhasani8 , Morteza Hashemzadeh Chaleshtori8 |
1- Department of Genetic, Faculty of Science, ShahidChamran University of Ahwaz, Ahwaz, Iran. , mchalesh@yahoo.com
2- Department of Genetic, Faculty of Science, ShahidChamran University of Ahwaz, Ahwaz, Iran.
3- Cellular and Molecular Biology Research Center (CMBRC), Babol University of Medical Sciences, Babol, Iran.
4- Department of Biochemistry and Genetics, Falavarjan Branch, Islamic Azad University, Isfahan, Iran.
5- Department of Genetics, Faculty of Medicine, JundiShapur University of Medical Sciences, Ahwaz, Iran.
6- Department of Basic Sciences, Faculty of Veterinary Medicine, Shahrekord University, Shahrekord, Iran.
7- Department of Genetics, Faculty of Science, Shahrekord University, Shahrekord, Iran.
8- Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran. |
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Abstract: (13509 Views) |
| Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL. One hundred fifty seven pupils affected with ARNSHL from Azarbaijan Sharghi, Kordestan, Gilan and Golestan provinces, north and west of Iran, were ascertained. In this descriptive - laboratory study, the presence of LRTOMT mutations were initially checked using PCR – Single - strand conformation polymorphism (SSCP) and heteroduplex analysis (HA) strategy. Samples with shifted bands on the gel were confirmed by DNA sequencing method. The PCR-SSCP/HA and the subsequent direct DNA sequencing showed no mutation in the population studied. We conclude that LRTOMT mutations have no role in causing sporadic deafness in the studied population. Further studies on other populations and samples could clarify the exact role of LRTOMT mutations. |
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| Keywords: - syndromic sporadic hearing loss, DFNB63, LRTOMT gene, PCR - SSCP, heteroduplex, Iran |
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Full-Text [PDF 47 kb]
(3461 Downloads)
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Type of Study: Original Article |
Subject:
Genetics & Disease
Received: 2013/02/9 | Accepted: 2013/06/22 | Published: 2013/06/22
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