title: High carrier frequency of the GJB2 mutation (35delG) in the north of Iran.
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 lower than that identified in European populations.
authors.affiliation: Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran. mchalesh@yahoo.com
authors.forename: Morteza Hashemzadeh
authors.initials: MH
authors.lastname: Chaleshtori
authors.forename: Effat
authors.initials: E
authors.lastname: Farrokhi
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Shahrani
authors.forename: Soleiman
authors.initials: S
authors.lastname: Kheiri
authors.forename: Masoumeh
authors.initials: M
authors.lastname: Dolati
authors.forename: Laleh Hoghooghi
authors.initials: LH
authors.lastname: Rad
authors.forename: Hamid
authors.initials: H
authors.lastname: Pour-Jafari
authors.forename: Keihan Ghatreh
authors.initials: KG
authors.lastname: Samani
authors.forename: Katayoon Safa
authors.initials: KS
authors.lastname: Chaleshtori
authors.forename: Andrew H
authors.initials: AH
authors.lastname: Crosby
mesh_terms: D020029:Base Pairing / Q000235:genetics; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004586:Electrophoresis; D004591:Electrophoresis, Polyacrylamide Gel; D005060:Europe; D017353:Gene Deletion; D005787:Gene Frequency / Q000235:genetics*; D006580:Genetic Carrier Screening; D006147:Guanine; D034381:Hearing Loss / Q000235:genetics; D006801:Humans; D007492:Iran; D008877:Middle East; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D006147:Guanine