بررسی طیف جهش های ژن GJB2 (Cx26) در بیماران غیر سندرمی ناشنوایی آذری ایرانی با الگوی اتوزومال مغلوب

داورنیا, بهزاد and بابانژاد, مژگان and فتاحی, زهره and نیک ذات, نوشین and بزاززادگان, نیلوفر and پیرزاده, اکبر and فرج اللهی, رضا and Nishimura, Carla and جلال وند, خدیجه and ارژنگی, ساناز and کهریزی, کیمیا and J.H. Smith, Richard and نجم آبادی, حسین (1390) بررسی طیف جهش های ژن GJB2 (Cx26) در بیماران غیر سندرمی ناشنوایی آذری ایرانی با الگوی اتوزومال مغلوب. International Journal of Pediatric Otorhinolaryngology ــ 76 (2). pp. 268-271. شاپا 0165-5876

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Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss

English Abstract

Objective: Hereditary hearing impairment is a genetically heterogeneous disorder. In spite of this,mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessivehearing loss in many countries and are largely dependent on ethnic groups. The purpose of our study wasto characterize the type and prevalence of GJB2 mutations among Azeri population of Iran.Methods: Fifty families presenting autosomal recessive nonsyndromic hearing loss from Ardabilprovince of Iran were studied for mutations in GJB2 gene. All DNA samples were screened for c.35delGmutation by ARMS PCR. Samples from patients who were normal for c.35delG were analyzed for theother variations in GJB2 by direct sequencing. In the absence of mutation detection, GJB6 was screenedfor the del(GJB6-D13S1830) and del(GJB6-D13S1854).Result: Thirteen families demonstrated alteration in the Cx26 (26%). The 35delG mutation was the mostcommon one, accounting for 69.2% (9 out of 13 families). All the detected families were homozygous forthis mutation. Two families were homozygous for delE120 and 299–300delAT mutations. We alsoidentified a novel mutation: c.463–464 delTA in 2 families resulting in a frame shift mutation.Conclusion: Our results suggest that c.35delG mutation in the GJB2 gene is the most important cause ofGJB2 related deafness in Iranian Azeri population.

Item Type:Article
زبان سند : انگلیسی
نویسنده اول :بهزاد داورنیا
نویسنده :اکبر پیرزاده
نویسنده مسئول :حسین نجم آبادی
Additional Information:Impact Factor (2012) 1.350 Indexed in: ISI, Pubmed/Medline/Index Medicus, Scopus, BIOSIS, Elsevier BIOBASE, Current Advances in Cancer Research, Current Contents/Life Sciences, Index Copernicus, EMBASE, Neuroscience Citation Index
کلیدواژه ها (انگلیسی):Non-syndromic hearing loss, Azeri, GJB2, Iran
Subjects:WV Otolaryngology
Divisions:Faculty of Medicine > Department of Basic Sciences > Department of Genetics
ID Code:8596
Deposited By: Dr Behzad Davarnia
Deposited On:07 Jan 1396 06:17
Last Modified:26 Jun 1402 15:50

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  • بررسی طیف جهش های ژن GJB2 (Cx26) در بیماران غیر سندرمی ناشنوایی آذری ایرانی با الگوی اتوزومال مغلوب. (deposited 07 Jan 1396 06:17) [Currently Displayed]

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