Bonyadi Mortaza J, Fotouhi Nikou, Esmaeili Mohsen
Center of Excellence for Biodiversity, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran; Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
Int J Pediatr Otorhinolaryngol. 2014 Apr;78(4):637-40. doi: 10.1016/j.ijporl.2014.01.022. Epub 2014 Jan 27.
Mutations in GJB2 and GJB6 which comprise DFNB1 locus cause up to half of all cases of the prelingual autosomal recessive non-syndromic hearing loss (ARNSHL) worldwide. This study has intended to assess the spectrum and frequency of GJB2/GJB6 mutations in northwest of Iran.
508 Patients with presumed ARNSHL were analyzed by applying ARMS-PCR, SSCP, PCR-RFLP and sequencing assays.
Seventy-five (14.7%) different homozygous and eighty-seven (17.1%) different compound heterozygous genotypes were detected in this cohort. Concerning the GJB2 gene, c.35delG was the most prevalent mutation, accounting for 16.4% of the samples. In addition 29 sequence variations other than c.35delG mutation were distinguished in GJB2; namely, delE120, Ins A 290-291, R143Q, V37I, R32H, Y155X, V27I + T123N, F154F, 167delT, 312del14, 299-300delA, T8M, W24X, E114G + V27I, 235delC, R184P, V153I, S139N, A171T, M163V (unknown mutation), G127V, E147X, R127H, 35insG, R143W, V27I, G160S, E114G and IVS1 + 1G > A. Moreover, the IVS1 + 1G > A was accounted as a second common mutation.
Overall, the frequency of GJB2 mutations (≥31%) is in agreement with other white population. These findings highlight the importance of the study of GJB2 gene in the diagnosis to provide early treatment and genetic counseling.
构成DFNB1位点的GJB2和GJB6基因突变导致全球多达一半的语前常染色体隐性非综合征性听力损失（ARNSHL）病例。本研究旨在评估伊朗西北部GJB2/GJB6基因突变的谱型和频率。
应用扩增阻滞突变系统聚合酶链反应（ARMS-PCR）、单链构象多态性（SSCP）、聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和测序分析对508例疑似ARNSHL患者进行分析。
在该队列中检测到75种（14.7%）不同的纯合子和87种（17.1%）不同的复合杂合子基因型。关于GJB2基因，c.35delG是最常见的突变，占样本的16.4%。此外，在GJB2中还鉴定出除c.35delG突变外的29种序列变异；即delE120、Ins A 290-291、R143Q、V37I、R32H、Y155X、V27I + T123N、F154F、167delT、312del14、299-300delA、T8M、W24X、E114G + V27I、235delC、R184P、V153I、S139N、A171T、M163V（未知突变）、G127V、E147X、R127H、35insG、R143W、V27I、G160S、E114G和IVS1 + 1G > A。此外，IVS1 + 1G > A被视为第二常见突变。
总体而言，GJB2基因突变的频率（≥31%）与其他白种人群一致。这些发现突出了研究GJB2基因在诊断中提供早期治疗和遗传咨询的重要性。
