Performance Evaluation of the TheraTyper-GJB2 Assay for Detection of GJB2 Gene Mutations
نویسندگان
چکیده
منابع مشابه
The Evaluation of GJB2 Gene Expression in the Cochlear Tissue Exposed to White Noise
Introduction: One of the most important complications of exposure to noises is changes in the gene expression patterns. Irreversible damage to the inner ear, such as noise-induced hearing loss (NIHL), is caused by tissue damage and changes in the gene expressions in the auditory system. Changes in the GJB2 gene expression pattern lead to autosomal deafness at different loci. The present study a...
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چکیده هدف اصلی از طراحی لرزه ای تامین ایمنی جانی در هنگام وقوع زلزله و تعمیر پذیر بودن سازه خسارت دیده، پس از وقوع زلزله است. تجربه زلزله های اخیر نشان داده است که ساختمان های طراحی شده با آیین نامه های مبتنی بر نیرو از نظر محدود نمودن خسارت وارده بر سازه دقت لازم را ندارند. این امر سبب پیدایش نسل جدید آیین نامه های مبتنی بر عملکرد شده است. در این آیین نامه ها بر اساس تغییرشکل های غیرارتجاعی ...
15 صفحه اولEvaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
متن کاملGJB2 mutations and degree of hearing loss: a multicenter study.
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutat...
متن کاملStudy of frequency and spectrum of GJB2 gene mutations in non-syndromic hearing loss patients of Semnan province
Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2014
ISSN: 1525-1578
DOI: 10.1016/j.jmoldx.2014.04.006