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Analysis of the SLC26A4 and CDH23 mutations in Iranian hearing loss patients

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Year: 2018
COI code: CIGS15_447
Paper Language: English

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Authors Analysis of the SLC26A4 and CDH23 mutations in Iranian hearing loss patients

  Maliheh Alimardani - Neurosciences Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Department of Medical Genetics, Tabriz University of Medical Sciences, Tabriz, Iran. Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran
  Mashsa Farjami - Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
  Majid Mojarrad - Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran
  Mahmoud Shekari Khaniani - Department of Medical Genetics, Tabriz University of Medical Sciences, Tabriz, Iran.Ebne sina Medical Genetic Diagnostic Laboratory, Tabriz University of Medical Sciences, Tabriz, Iran
  Sima Mansoori Derakhshan - Neurosciences Research Center, Tabriz University of Medical Sciences, Tabriz, Iran, Department of Medical Genetics, Tabriz University of Medical Sciences, Tabriz, Iran.Ebne sina Medical Genetic Diagnostic Laboratory, Tabriz University of Medical Sciences,

Abstract:

(1) Introduction: non-syndromic hearing loss (NSHL) is an autosomal recessive disease with incidence at least 1.9 per 1000 infants at birth. Efficient molecular diagnosis needs a detailed knowledge about genes and mutations involved in NSHL patients for individual populations. Today, several genes have been studied in Iranian population; whereas some other genes such as SLC26A4 and CDH23 genes are yet to be fully analyzed. (2) Methods and materials: we are used allele-specific polymerase chain reaction (PCR) for detection of five mutations include c.719C> T and c.6085C> T in CDH23 gene, and IVS7-2A> G, c.1975G> C, and c.2168A> G in SLC26A4 gene in 100 patients with autosomal-recessive NSHL, originating from Eastern-Azerbaijan and Khorasan province, were screened.(3) Results: In all samples, none of mentioned mutations could be identified. The results were checked by sequencing in 15 samples and the absence of these mutations was validated. (4) Conclusion: It seems that although the precise portion made by such mutations needs to be defined using a larger patient cohort, the present data show that these mutations in the CDH23 and SLC26A4 genes are not important causes of autosomal-recessive NSHL in Iranian population.

Keywords:

hearing loss, CDH23, SLC26A4, Iranian population.

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COI code: CIGS15_447

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Alimardani, Maliheh; Mashsa Farjami; Majid Mojarrad; Mahmoud Shekari Khaniani & Sima Mansoori Derakhshan, 2018, Analysis of the SLC26A4 and CDH23 mutations in Iranian hearing loss patients, The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, https://www.civilica.com/Paper-CIGS15-CIGS15_447.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Alimardani, Maliheh; Mashsa Farjami; Majid Mojarrad; Mahmoud Shekari Khaniani & Sima Mansoori Derakhshan, 2018)
Second and more: (Alimardani; Farjami; Mojarrad; Shekari Khaniani & Mansoori Derakhshan, 2018)
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Type: Medical University
Paper No.: 5463
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