نتایج جستجو برای: 35delg
تعداد نتایج: 148 فیلتر نتایج به سال:
South European cases with autosomal recessive inherited hearing loss (4,8). The frequent incidence of the 35delG mutation requires analyzing both affected individuals and parents (in terms of being carriers) for genetic counseling. The aim of this study was to determine the frequency of GJB2 gene mutations in patients with congenital NSSNHL and to investigate new mutations of the GJB2 gene in o...
مقدمه: ناشنوایی رایج ترین نقص حسی-عصبی است که شیوع آن 1 نفر از1000 کودک تازه به دنیا آمده است. هدف ما در این مطالعه، بررسی جهش های ژن gjb2 در ناشنوایان مراجعه کننده به مراکز مشاوره سازمان بهزیستی ایلام و تعیین فراوانی جهش ژن gjb2 در این افراد می باشد. روش بررسی: از مدد جویانی که جهت مشاوره ی ژنتیک به مرکز مشاوره ی ژنتیک شهر ایلام مراجعه کرده بودند، نمونه خون گرفته شد. مطالعه از نوع توصیفی بود. ...
The 35delG mutation in the gap junction protein, β2, 26kDa (GJB2) gene is the most common mutation that has been found in children with non syndromic hearing loss. Testing for the GJB2 gene mutation is simple and can directly answer the concerns of the parents about cause of the disorder and prognosis for their children. Cochlear implantation (CI) is one of the methods of hearing rehabilitation...
Background: C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another frequent mutation in some Caucasian populations is del(GJB6-D13S1830). Both GJB2 and GJB6 genes belong to the same DFNB1 locus and when the two mutations are found in combination in a hearing-impaired person, a digenic pattern of inheritance is suggested. Methods: We examined 63 Croatian sub...
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 and a...
mutations in the gjb2 gene at the dfnb1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (arnshl) in many populations. a single mutation, at position 35 (35delg) accounts for approximately 30-63% of mutations in white populations with a carrier frequency of 1.5-2.5% in most european, north american and mediterranean populations. in this study we have ...
Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf p...
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...
introduction: hearing loss is the most common sensory defect in humans, affecting approximately 1 in 1000 neonates in which genetic factors are involved in more than 50%. connexin 26 or gjb2 gene mutations are responsible for half of autosomal recessive non-syndromic hearing losses. the purpose of this study was to determine the gjb2 mutations frequency in autosomal recessive non-syndromic deaf...
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