در ژن كانكسين 62 در ناشنوايان غير سندرمي جسمي مغلوب در جمعيت ايران 53DELG وفور نسبي جهش

Study of the relative prevalence of 35delG mutation in connexin 26 gene in autosomal recessive nonsyndromic hearing loss (ARNSHL) in Iranian population

Introduction: Hereditary hearing loss is the most prevalent form of hearing impairment which affects more than 1 out of 2000 newborns. Non-syndromic hearing loss constitutes more than 70% of hereditary deafness and 80% of which is in autosomal recessive form. Many genes are involved but the most important is amutation in connexin 26 (GJB2) gene which is present in different populations. This mutation causes ARNSHL. The aim of this project was to determine the prevalence of the most common connexin 26 gene mutations i.e. 35delG in our non-syndromic deaf population. Methods: Patients were selected from those who referred for ear-trumpet, cochlear implant, genetic consultation, and etc. These patients meet the criteria of autosomal recessive inheritance. The procedure was mainly using ARMS/PCR method to identify the mutation. Results: Totally 295 patients were studied but only 12% showed 35delG mutation in their analysis. Conclusion: The infra population differences observed in this research, indicates that different factors might be involved in the seen pattern. This result is not in accordance with some other worldwide studies and shows other probable dominant mutations or loci to be involved in our population.