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

Chaleshtori MH,Farrokhi E,Shahrani M,Kheiri S,Dolati M,Rad LH,Pour-Jafari H,Samani KG,Chaleshtori KS,Crosby AH

doi

10.1016/j.ijporl.2007.02.005

subject

Has Abstract

pub_date

2007-06-01 00:00:00

pages

863-7

issue

6

eissn

0165-5876

issn

1872-8464

pii

S0165-5876(07)00069-9

journal_volume

71

pub_type

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