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Iranian Rehabilitation Journal، جلد ۱۳، شماره ۳، صفحات ۶۴-۶۸
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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 |
Investigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss |
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چکیده انگلیسی مقاله |
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilities due to consanguineous marriages. The aim was to investigate the prevalence of three new ARHL genes (GJB4, GJC3, and SLITRK6) reported in neighboring countries among Iranian families with ARNSHL. Methods: One hundred unrelated families with at least two affected siblings in consanguineous marriage, who were negative for GJB2 gene mutations, were selected. By using three STR markers for each gene, homozygosity mapping was performed. Results: Two families showed linkage to GJB4, six families were linked to GJC3 and only one family linked to SLITRK6. The samples of these families who showed linkage were sent for Sanger sequencing to detect the causative mutations. However, after analyzing the sequencing results, no mutation could be detected in either of the families. Molecular analysis for these nine families is underway in order to determine the pathogenic mutations using whole exome sequencing. Discussion: These data demonstrate a very low prevalence of mutation in these three genes (GJB4, GJC3, and SLITRK6) in the Iranian population, since no mutation was detected in our study group of 100 families. |
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کلیدواژههای انگلیسی مقاله |
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نویسندگان مقاله |
ریحانه علیخانی | reihaneh alikhani genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
فاطمه استرش | fatemeh ostaresh genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
مژگان بابانژاد | mojgan babanejad genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
نیلوفر بزاززادگان | nilofar bazazzadegan genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
حسین نجم آبادی | hossein najmabadi genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
کیمیا کهریزی | kimia kahrizi genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.
سازمان اصلی تایید شده: دانشگاه علوم بهزیستی و توانبخشی (University of social welfare and rehabilitation sciences)
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نشانی اینترنتی |
http://irj.uswr.ac.ir/browse.php?a_code=A-10-382-1&slc_lang=en&sid=en |
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زبان مقاله منتشر شده |
en |
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نوع مقاله منتشر شده |
1 |
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