investigation of lrtomt gene (locus dfnb63) mutations in iranian patients with autosomal recessive non-syndromic hearing loss

نویسندگان

seyyed hossein taghizadeh department of genetic, faculty of science, shahid chamran university of ahwaz, ahwaz, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی جندی شاپور اهواز (ahvaz jundishapur university of medical sciences)

seyyed reza kazeminezhad department of genetic, faculty of science, shahid chamran university of ahwaz, ahwaz, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی جندی شاپور اهواز (ahvaz jundishapur university of medical sciences)

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)

nasrin yazdanpanahi department of biochemistry and genetics, falavarjan branch, islamic azad university, isfahan, iran.سازمان اصلی تایید شده: دانشگاه آزاد اسلامی فلاورجان (islamic azad university of felavarjan)

چکیده

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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Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss

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...

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Investigation of LRTOMT gene (locus DFNB63) mutations in Iranian patients with autosomal recessive non-syndromic hearing loss

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عنوان ژورنال:
international journal of molecular and cellular medicine

جلد ۲، شماره ۱، صفحات ۴۱-۴۵

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