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Iranian Journal of Basic Medical Sciences، جلد ۱۴، شماره ۳، صفحات ۲۱۳-۲۱۸
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Profile of Iranian GJB2 Mutations in Young Population with Novel Mutation
چکیده انگلیسی مقاله Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations plus one novel (358delGAG) were found in 25% of study group. The 35delG mutation (64%) constituted the majority of GJB2 mutations. Conclusion Role of GJB2 mutation in Iranian young deaf population is more prominent than previous study that can be a result of higher consanguine marriage in population. But our result shows that there is only 25% non- syndromic hearing loss due to high frequency of consanguine marriage in Iranian population. Identification of other genes involved in genetic deafness will help us understand the fundamental mechanisms of normal hearing, both in early diagnosis and therapy.
کلیدواژه‌های انگلیسی مقاله ARNSHL, Connexin Cx26, GJB2, Hereditary hearing loss
نویسندگان مقاله معصومه فلاح | masoumeh falah
department and research center of ent amp;amp; head and neck surgery of tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

مسعود هوشمند | massoud houshmand
national institute for genetic engineering and biotechnology, tehran, iran


سوسن اکبراوغلی | susan akbaroghli
tehran welfare organization, tehran, iran


سعید محمودیان | saeid mahmodian
department and research center of ent amp;amp; head and neck surgery of tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

یاسر قوامی | yaser ghavami
department and research center of ent amp;amp; head and neck surgery of tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

محمد فرهادی | mohammad farhadi
department and research center of ent amp;amp; head and neck surgery of tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

نشانی اینترنتی http://ijbms.mums.ac.ir/article_4992.html
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Original Article
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