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Cell Journal، جلد ۱۳، شماره Supplement، صفحات ۰-۰
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عنوان انگلیسی P-20: Genetic Analysis of Hearing Loss Among Autosomal Recessive Non-Syndromic HGroupearingLoss Patients from Iranian Azeri Turk Ethnic Group
چکیده انگلیسی مقاله Objective: Approximately one of 1000 children is affected by severe or profound hearing loss at birth or during early childhood. Genetic hearing loss is classified as syndromic or non-syndromic. Non-syndromic accounts for 80% of congenital hereditary deafness. Most frequently, the mode of inheritance is autosomal recessive non-syndromic hearing loss (ARNSHL). Although to date 23 different genes have been characterized for ARNSHL, DFNB1 locus containing GJB2 and GJB6 genes accounts for about 50% cause of this type hearing loss. The GJB2 and GJB6 genes encode the structurally highly related proteins connexin 26 and connexin 30, respectively. A transmembrane connexin protein is oligomerized and bonded with other ones to form functional gap junctions. In this study we assessed the contribution of GJB2 (including IVS1+1G>A mutation) and del (GJB6- D13S1830) mutations in Iranian Azeri Turkish patients. Materials and Methods: All two hundred unrelated patients with ARNSHL were tested by using multiplex- PCR and ARMS-PCR assay. Afterward GJB2 gene was screened for c.IVS1 +1G>A mutation (called -3172 G>A) using RFLP-PCR procedure. Results: Our results showed that GJB2 mutations are responsible for about 28% of the autosomal recessive non-syndromic hearing loss in this ethnic group.35delG is the most prevalent GJB2 mutation accounting for 64.5% of the GJB2 mutations and del (GJB6- D13S1830) was not found. We have also found there are two mutations in splice site which is important to be distinguished from each other. Conclusion: Our results support founder effect regarding these mutations.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/1552
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