:: Volume 14, Issue 4 (Quarterly 2011) ::
Feyz 2011, 14(4): 447-452 Back to browse issues page
Molecular investigation of mtDNA A1555G, A3243G and A7445G mutations among the non syndromic hearing loss cases in Fars, Iran
Somayeh Reisi, Zohreh Atai, Marzieh Abolhasani, Mahbobeh Kasiri, Mohamad Taghi Akbari, Soraya Heidari *, Mostafa Montazer Zohouri, Efat Farrokhi, Abolfath Shirmardi, Golandam Banitalebi
Abstract:   (9022 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.

Keywords: Mitocondrial DNA, Mutation, A3243G, A7445G, Syndrom-free hearing loss, PCR-RFLP
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Type of Study: Research | Subject: General
Received: 2010/12/25

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Volume 14, Issue 4 (Quarterly 2011) Back to browse issues page