Molecular investigation of mtDNA A1555G, A3243G and A7445G mutations among the non syndromic hearing loss cases in Fars, Iran
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Somayeh Reisi , Zohreh Atai , Marzieh Abolhasani , Mahbobeh Kasiri , Mohamad Taghi Akbari , Soraya Heidari , Mostafa Montazer Zohouri , Efat Farrokhi , Abolfath Shirmardi , Golandam Banitalebi |
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Abstract: (10728 Views) |
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. |
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Keywords: Mitocondrial DNA, Mutation, A3243G, A7445G, Syndrom-free hearing loss, PCR-RFLP |
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Full-Text [PDF 284 kb]
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Type of Study: Research |
Subject:
General Received: 2010/12/25 | Published: 2011/01/15
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