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A Novel Mutation of SLC26A4 Gene in an Iranian Family with Pendred Syndrome
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نویسنده
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Kahrizi K. ,Nishimura C. ,Naghavi A. ,Riazalhosseini Y. ,Smith R. J. H. ,Najmabadi H.
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منبع
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international journal of endocrinology and metabolism - 2005 - دوره : 3 - شماره : 2 - صفحه:104 -108
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چکیده
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In the diagnosis of pendred syndrome, i assessment of individuals by molecular analysis of the slc26a4 gene is recommended.here we report a novel mutation in the slc26a4 gene as revealed bydenaturing high performance liquid chromatography (dhple) and dna sequencing of the entire coding region of the slc26a4 gene in fivemembers of an iranian family affected with pendred syndrome. this is the first report of the molecular investigation of pendred syndrome iniran and the first report of the r79x mutation.
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کلیدواژه
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Pendred syndrome ,congenital deafness ,SLC26A4 ,R79X ,mutation analysis ,Iran
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آدرس
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university of social welfare and rehabilitation sciences, Genetic Research Center, ایران, University of Iowa, Department of Otolaryngology, USA, university of social welfare and rehabilitation sciences, Genetic Research Center, USA, university of social welfare and rehabilitation sciences, Genetic Research Center, ایران, University of Iowa, Department of Otolaryngology, ایران, university of social welfare and rehabilitation sciences, Genetic Research Center
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پست الکترونیکی
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hnajm@mavara.com
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Authors
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