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Although most nonsyndromic hereditary deafness caused by mutations in nuclear genes, significant contributions of mitochondrial DNA mutations (mtDNA) have become clearer in recent years. The aim of present study was to screen common mitochondrial mutations, including A7445G, A15555G and A3243G in individuals with nonsyndromic deafness. In this study, 50 patients with nonsyndromic deafness and 50 healthy controls were studied. Samples were screened for common mutations in mtDNA using PCR-RFLP method. Sequencing was carried out to confirm observed mutations. None of A7445G and A3243G mutations were found in individuals with acquired and nonsyndromic deafness. But A15555G was observed in 2 patients with nonsyndromic deafness. There was no statistically significant correlation between the incidence of this mutation and the risk of deafness while comparing the control groups with patients (CI: 95%, OR: 1.41 and P: 0.24). This study demonstrates that mitochondrial mutations mtDNA mutations play more prominent role in the origin of nonsyndromic deafness in the study population.
Kyumars Safinejad, Ayat Mohebifar, Aida Mohammadi Shabestari, Shakiba Davoud, Mohammad Rahimi, Mostafa Yaghoubi. (2021) INVESTIGATION OF COMMON MITOCHONDRIAL MUTATIONS INCLUDING A7445G, A15555G AND A3243G IN INDIVIDUALS WITH NONSYNDROMIC DEAFNESS, , Volume 18, Issue 3.
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