International Journal of Molecular and Cellular Medicine، جلد ۲، شماره ۱، صفحات ۴۱-۴۵

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عنوان انگلیسی Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss
چکیده انگلیسی مقاله Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL. One hundred fifty seven pupils affected with ARNSHL from Azarbaijan Sharghi, Kordestan, Gilan and Golestan provinces, north and west of Iran, were ascertained. In this descriptive - laboratory study, the presence of LRTOMT mutations were initially checked using PCR – Single - strand conformation polymorphism (SSCP) and heteroduplex analysis (HA) strategy. Samples with shifted bands on the gel were confirmed by DNA sequencing method. The PCR-SSCP/HA and the subsequent direct DNA sequencing showed no mutation in the population studied. We conclude that LRTOMT mutations have no role in causing sporadic deafness in the studied population. Further studies on other populations and samples could clarify the exact role of LRTOMT mutations.
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نویسندگان مقاله سید حسین تقی زاده | seyyed hossein taghizadeh
department of genetic, faculty of science, shahid chamran university of ahwaz, ahwaz, iran.

سازمان اصلی تایید شده: دانشگاه شهید چمران (Shahid chamran university)

سید رضا کاظمی نژاد | seyyed reza kazeminezhad
department of genetic, faculty of science, shahid chamran university of ahwaz, ahwaz, iran.

سازمان اصلی تایید شده: دانشگاه شهید چمران (Shahid chamran university)

سید علی اصغر سفیدگر | seyyed ali asghar sefidgar
cellular and molecular biology research center cmbrc , babol university of medical sciences, babol, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بابل (Babol university of medical sciences)

نسرین یزدان پناهی | nasrin yazdanpanahi
department of biochemistry and genetics, falavarjan branch, islamic azad university, isfahan, iran.

سازمان اصلی تایید شده: دانشگاه آزاد اسلامی علوم و تحقیقات (Islamic azad university science and research branch)

محمد امین طباطبایی فر | mohammad amin tabatabaeifar
department of genetics, faculty of medicine, jundishapur university of medical sciences, ahwaz, iran.


احمد یوسفی | ahmad yousefi
department of basic sciences, faculty of veterinary medicine, shahrekord university, shahrekord, iran.


سید محمد لسانی | seyyed mohammad lesani
department of genetics, faculty of science, shahrekord university, shahrekord, iran.


مرضیه ابوالحسنی | marziyeh abolhasani
cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran.


مرتضی هاشم زاده چالشتری | morteza hashemzadeh chaleshtori
cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran.



نشانی اینترنتی http://www.ijmcmed.org/browse.php?a_code=A-10-89-1&slc_lang=en&sid=en
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