نتایج جستجو برای: جهش های gjb2
تعداد نتایج: 479512 فیلتر نتایج به سال:
Previous studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups. To fill the gap, this study ascertained 263 patients with NSHI between ages 2 months and 60 years and analyzed the presence of GJB2 gene and mtDNA A1555G/C1494T mutations by polymerase chain re...
G ap junctions composed of connexins (Cx) are intercellular channels that provide a mechanism of synchronised cellular response facilitating the metabolic and electronic functions of the cell. At least 20 human Cx genes have been described, many of which harbour germline mutations that are associated with a variety of human diseases. Recessive mutations in the coding region of GJB2 encoding Cx2...
The molecular etiology of nonsyndromic sensorineural hearing loss (SNHL) in subjects with only one detectable autosomal recessive GJB2 mutation is unclear. Here, we report GJB2 single heterozygotes with various final genetic diagnoses and suggest appropriate diagnostic strategies. A total of 160 subjects with SNHL without phenotypic markers were screened for GJB2 mutations. Single-nucleotide va...
Background: Hearing impairment as a heterogeneous disorder is the most common sensory defect that occur 1 in 1000. Mutations in GJB2 (CX26) gene at DFNB1 locus on 13q12 are responsible for autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. This study investigates the GJB2 gene mutations in deaf patients refereed to the deaf center of Tabriz. Methods: In the present ...
Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (NSHL). Mutations in GJB2 gene are major cause of inherited deafness in the European an...
Recently, molecular testing for GJB2 mutations has become the standard of care for the diagnosis of patients with non syndromic hearing impairment of unknown cause. The aims of this study are to determine the association between GJB2 mutation and GJB6 and to report the variation of mutations in deaf students who have heterozygous GJB2. This retrospective study was conducted at Universiti Kebang...
G ap junctions composed of connexins (Cx) are intercellular channels that provide a mechanism of synchronised cellular response facilitating the metabolic and electronic functions of the cell. At least 20 human Cx genes have been described, many of which harbour germline mutations that are associated with a variety of human diseases. Recessive mutations in the coding region of GJB2 encoding Cx2...
زمینه و هدف: ناشنوایی رایج ترین اختلال حسی عصبی با بروز یک در هر هزار نوزاد می باشد. حدود 70% از موارد ژنتیکی ناشنوایی را موارد غیر سندرومی تشکیل می دهند. بیش از 100 لوکوس در ناشنوایی غیر سندرومی مغلوب اتوزومی(ARNSHL) درگیر می باشند. هدف از این مطالعه بررسی آنالیز پیوستگی به لوکوس DFNB24 (ژن رادیکسین) در خانواده های مبتلا به ARNSHL می باشد. روش بررسی: در این مطالعه توصیفی- آزمایشگاهی 400 نمونه...
زمینه و هدف : ناشنوایی یکی از شایع ترین اختلالات مادرزادی است. از هر 1000 توزاد زنده یک نوزاد در هنگام تولد یا اوایل کودکی دارای نقص شنوایی عمیق با شدید است. بیش از 50% ناشنوایی های prelingual زمینه ژنتیکی دارند که این گروه را می توان به دو دسته ی سندرمی و غیرسندرمی تقسیم نمود.بیش از 80% ناشنوایی های غیرسندرمی الگوی وراثتی اتوزومی مغلوب را دارا هستند. ناشنوایی غیرسندرمی اتوزومی مغلوب(arnshl) در...
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