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International Journal of Molecular and Cellular Medicine، جلد ۳، شماره ۳، صفحات ۱۷۶-۱۸۲
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations |
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| چکیده انگلیسی مقاله |
Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. According to the studies, mutations in GJB2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambiguous. With regard to studies, DFNB4 locus (SLC26A4) can be classified as the second cause of hearing loss. So, this study aimed to determine the contribution of this locus in hearing loss as well as the frequency of SLC26A4 gene mutations in a population in the west of Iran. In this descriptive laboratory study, we included 30 families from the west of Iran with no mutation in GJB2 gene. Linkage analysis was performed by DFNB4 (SLC26A4) molecular markers (STR). The families with hearing loss linked to this locus were further analyzed for mutation detection. SLC26A4 gene exons were amplified and analyzed using direct DNA sequencing. In studied families, 2 families displayed linkage to DFNB4 locus. Identified mutations include mutation in exon 5 (c.416 G>T) and in splicing site of exon 7 (IVS-2 A>G or c.919-2 A>G). |
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| کلیدواژه‌های انگلیسی مقاله |
SLC26A4, hearing loss, linkage analysis, Iran |
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| نویسندگان مقاله |
سمیه رییسی | somayeh reiisi
medical genetics department, national institute of genetic engineering and biotechnology nigeb .
سازمان اصلی تایید شده: پژوهشگاه ملی مهندسی ژنتیک و زیست فناوری
محمد حسین صنعتی | mohammad hosein sanati
medical genetics department, national institute of genetic engineering and biotechnology nigeb .
سازمان اصلی تایید شده: پژوهشگاه ملی مهندسی ژنتیک و زیست فناوری
محمد امین طباطبایی فر | mohammad amin tabatabaiefar
medical genetics department, ahvaz jundishapur university of medical sciences, ahvaz, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی جندی شاپور اهواز (Ahvaz jundishapur university of medical sciences)
شهلا احمدیان | shahla ahmadian
cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran.
سلیمه رییسی | salimeh reiisi
biochemistry department, maleke-ashtar university of technology, tehran iran.
شهربانو پرچمی | shahrbanoo parchami
cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran.
حمید پورجعفری | hamid porjafari
medical genetics department, hamedan university of medical sciences, hamedan, iran.
حشمت شاهی | heshmat shahi
medical genetics department, national institute of genetic engineering and biotechnology nigeb .
سازمان اصلی تایید شده: پژوهشگاه ملی مهندسی ژنتیک و زیست فناوری
افسانه شاورزی | afsaneh shavarzi
cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran.
مرتضی هاشم زاده چالشتری | morteza hashemzade chaleshtor
cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran.
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| نشانی اینترنتی |
http://www.ijmcmed.org/browse.php?a_code=A-10-231-1&slc_lang=en&sid=en |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
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| نوع مقاله منتشر شده |
1 |
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