Volume 24, Issue 1 (April & May 2021)                   J Arak Uni Med Sci 2021, 24(1): 50-61 | Back to browse issues page


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Pouryari Biyachal P, Ranji N, Nazemi A. Investigating GJB2 Mutation in 31 Individuals With Non-syndromic Hearing Loss. J Arak Uni Med Sci 2021; 24 (1) :50-61
URL: http://jams.arakmu.ac.ir/article-1-6383-en.html
1- Department of Genetics, Faculty of Biological Sciences, Tonekabon Branch, Islamic Azad University, Tonekabon, Iran.
2- Department of Biology, Faculty of Sciences, Rasht Branch, Islamic Azad University, Rasht, Iran. , n_ranji@iaurasht.ac.ir
Abstract:   (2068 Views)
Background and Aim: Non-syndromic hearing loss is a genetically heterogeneous disorder. Mutation in the GJB2 gene is a major cause of non-syndromic hearing loss in numerous countries. This study aimed to evaluate GJB2 mutations in 31 individuals with non-syndromic hearing loss
Methods & Materials: In this descriptive cross-sectional study, the required blood samples were collected from 31 individuals with non-syndromic hearing loss in Rasht and Bandar Anzali Cities, Gilan Province, Iran. After DNA isolation, the GJB2 gene was amplified by the PCR method and underwent sequencing. 
Ethical Considerations:This study was approved by the Ethics Committee of the Islamic Azad University, Mashhad Branch (Code: IR.IAU.MSHD.REC.1398.027).
Results: In this study, 3 mutations were determined in 18 individuals with hearing loss. Accordingly, 35delG mutation had the highest frequency (48.38%) in individuals with hearing loss as homozygote (n=14) and heterozygote (n=2). A patient with heterozygosity in V153I mutation and a patient with compound heterozygosity in 35delG/G200R mutation was determined.
Conclusion: It appears that 35delG mutation is a common mutation in the GJB2 gene in individuals with non-syndromic hearing loss in Guilan Province.
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Type of Study: Original Atricle | Subject: Basic Sciences
Received: 2020/07/13 | Accepted: 2020/10/26

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