High carrier frequency of the GJB2 mutation (35delG) in the north of Iran

Hashemzadeh Chaleshtori, M. and Farrokhi, E. and Shahrani, M. and Kheiri, S. and Dolati, M. and Hoghooghi Rad, L. and Pour-Jafari, H. and Ghatreh Samani, K. and Safa Chaleshtori, K. and Crosby, A.H. (2007) High carrier frequency of the GJB2 mutation (35delG) in the north of Iran. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 71 (6). pp. 863-867.

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Abstract

Objective: Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic non-syndromic hearing loss in many populations. A single mutation of this gene (35delG) accounts for approximately 70% of mutations in Caucasians with a carrier frequency of 2-4% in Europe. This study aims to determine the rate of 35delG carrier frequency in Iran. Methods: Genomic DNA was extracted from a total of 550 unaffected unrelated subjects from 4 provinces of Iran following the standard phenol chloroform procedure. The one base pair deletion (35delG) was analysed using a nested PCR procedure; 35delG mutation carriers were subsequently confirmed by sequence analysis. Moreover, using the Binomial probability distribution, we compared the 35delG carrier frequency of Iranian population with the various Middle Eastern and overall European populations. Results: Of the four populations studied, we found a high carrier frequency of 2.8% in Gilan province in the north of Iran. The overall 35delG carrier frequency was found to be 1.25% in the populations studied (our present and previous data) which is similar to the overall 35delG carrier frequency detected in Middle Eastern populations, but Significantly tower than that identified in European populations. (c) 2007 Elsevier Ireland Ltd. All rights reserved.

Item Type: Article
Uncontrolled Keywords: deafness; connexin 26; GJB2; carrier frequency; 35delG; Iran
Subjects: QU Biochemistry > Cell biology and genetics
WV Otolaryngology
Divisions: Faculty of Medicine
Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: zahra bagheri .
Date Deposited: 19 Aug 2017 08:32
Last Modified: 19 Aug 2017 08:32
URI: http://eprints.skums.ac.ir/id/eprint/3165

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