fa فراوانی جهش‌های M34T،167delT ، 235delC و 35delG در ژن GJB2 در ناشنوایی حسی- عصبی غیر سندرمی با وراثت جسمی مغلوب در جمعیت استان آذربایجان غربی مقاله پژوهشی Original Research Article <p style="text-align: justify;"><strong><em>Background and Objective:</em></strong> Mutations in GJB2 gene is the most common cause of autosomal recessive non-syndromic hearing loss in many populations. The aim of this study was to determine the frequency of 35delG, 167delT, M34T, 235delC mutations in West Azarbaijan population.<span dir="RTL"></span><br> <strong><em>Materials and Methods:</em></strong> 129 patients from 96 families were studied. Mutations were detected using ASO-PCR and PCR-RFLP methods. <strong><em><span dir="RTL"></span></em></strong><br> <strong><em>Results:</em></strong> Totally, 65.89% of cases were sporadic and the remaining (34.11%) were familial. Six out of 8 cases with 35delG mutation and one case with 235delC mutation were offspring of consanguineous union. Mutations of 35delG were detected in 8 families. 167delT and M34T mutations were not found but 235delC was detected only in one family. On the other hand, 13 out of 258 chromosomes had 35delG mutations. Five patients were homozygous and 3 were heterozygous for 35delG mutation. It means that, in 5.04% of the patients the major reason for hearing loss was 35delG mutation. One out of 258 (0.39%) chromosomes had heterozygous 235delC mutation.</p> <p style="text-align: justify;"><strong><em>Conclusion:</em></strong> It can be concluded that the other genes or mutations could result in autosomal recessive non-syndromic hearing loss in West Azerbaijani population.</p> M34T, 167delT, 235delC, 35delG, GJB2 gene, Non-syndromic hearing loss 37 47 http://journal.zums.ac.ir/browse.php?a_code=A-10-4-590&slc_lang=fa&sid=1 Issa Abdi Rad عیسی عبدی‌راد 5200319475328460060104 5200319475328460060104 No Center for Cellular and Molecular Research, Urmia University of Medical Sciences, Urmia, Iran دکترای تخصصی ژنتیک، دانشیار مرکز تحقیقات سلولی و مولکولی، دانشگاه علوم پزشکی ارومیه Morteza Bagheri مرتضی باقری khalili59@hotmail.com 5200319475328460060105 5200319475328460060105 Yes Faculty of Medicine, Dept. of Genetics, Urmia University of Medical Sciences, Urmia, Iran کارشناس ارشد ژنتیک، مربی دانشگاه علوم پزشکی ارومیه Farinaz Farhoudi فریناز فرهودی 5200319475328460060106 5200319475328460060106 No Faculty of Medicine, Urmia University of Medical Sciences, Urmia, Iran پزشک عمومی، دانشگاه علوم پزشکی ارومیه