نتایج جستجو برای: dfnb2
تعداد نتایج: 20 فیلتر نتایج به سال:
Human MYO7A mutations can cause a variety of conditions involving the inner ear. These include dominant and recessive non-syndromic hearing loss and syndromic conditions such as Usher syndrome. Mouse models of deafness allow us to investigate functional pathways involved in normal and abnormal hearing processes. We present two novel mouse models with mutations in the Myo7a gene with distinct ph...
BACKGROUND Hearing loss (HL) is the most frequent sensory birth defect in humans. Autosomal recessive non-syndromic HL (ARNSHL) is the most common type of hereditary HL. It is extremely heterogeneous and over 70 loci (known as DFNB) have been identified. This study was launched to determine the relative contribution of more frequent loci in a cohort of ARNSHL families. METHODS Thirty-seven Ir...
Mutations in the head and tail domains of the motor protein myosin VIIA (MYO7A) cause deaf-blindness (Usher syndrome type 1B, USH1B) and nonsyndromic deafness (DFNB2, DFNA11). The head domain binds to F-actin and serves as the MYO7A motor domain, but little is known about the function of the tail domain. In a genetic screen, we have identified polka mice, which carry a mutation (c.5742 + 5G > A...
ناشنوایی یک اختلال حسی-عصبی است که 60% آن ارثی می باشد و تاکنون ژنهای زیادی برای آن شناسایی شده است. هتروژنیتی بالا در ناشنوایی، معضلی در جهت شناسایی علت ژنتیکی بیماری و مشاوره ژنتیک ایجاد می باشد. بنابراین، محققان، مطالعه خانواده های بزرگ در جمعیت هایی مثل جمعیت خاورمیانه و از جمله ایران که فراوانی ازدواج خویشاوندی در آنها بالا می باشد پیشنهاد کرده اند. بنابراین هدف از مطالعه بررسی 35 خانواده ...
هدف: نقص شنوایی فراوان ترین بیماری حسی– عصبی می باشد که به دو فرم سندرومی و غیرسندرومی مشاهده می شود. هدف این مطالعه، بررسی پیوستگی ۷ جایگاه ژنی مسئول در ناشنوایی غیر سندرومی آتوزومی مغلوب در خانواده های ایرانی می باشد. روش بررسی: در این مطالعه توصیفی، 41 خانواده دارای حداقل ۲ فرد مبتلا به ناشنوایی غیرسندرومی آتوزومی مغلوب که جهش در جایگاههای ژنی dfnb1, dfnb2, dfnb3, dfnb4, dfnb6 ,dfnb7/11 ,df...
Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non-syndromic dominant deafness and 30 for autosomal recessive non-syndromic deafness. In spite of significant advances in the understanding of the molecular basis of hearing loss, identifying the precise genetic cause in an individual remains difficult. Consequently, it is impo...
Mutations of the unconventional myosins genes encoding myosin VI, myosin VIIA and myosin XV cause hearing loss and thus these motor proteins perform fundamental functions in the auditory system. A null mutation in myosin VI in the congenitally deaf Snell's waltzer mice (Myo6(sv)) results in fusion of stereocilia and subsequent progressive loss of hair cells, beginning soon after birth, thus rei...
Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of transmission is autosomal recessive. To date, 14 loci have been identified for the recessive forms (DFNB loci). For two of them, DFNB1 and DFNB2, the genes responsible have been characterized; they encode connexin 26 and myosin VIIA, respectively. In order to evaluate t...
background: hearing loss (hl) is the most frequent sensory birth defect in humans. autosomal recessive non-syndromic hl (arnshl) is the most common type of hereditary hl. it is extremely heterogeneous and over 70 loci (known as dfnb) have been identified. this study was launched to determine the relative contribution of more frequent loci in a cohort of arnshl families. methods: thirty-seven i...
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