GJB2 gene
Congenital Deafness: High Prevalence of a V371 Mutation in the Gjb2 Gene Among Deaf School Children in Alor Setar
... Congenital Deafness High Prevalence of a V371 Mutation in the GJB2 Gene Among Deaf School Children in Alor Setar ORIGINAL ARTICLE Congenital Deafness High Prevalence of a V371 Mutation in the GJB2 Gen[.] ...
6
A systematic review and meta analysis of 235delC mutation of GJB2 gene
... of GJB2 gene and the NSHL ...of GJB2 gene trended to be consistent with re- cessive model in Chinese population, while heterogeneity of genetic effect was also detected in studies of ...
10
Non-Syndromic Autosomal Recessive Deafness in Gaza Strip: A Study of Five GJB2 Gene Mutations
... The gene that is most frequently mutated in autosomal recessive non-syndromic hearing loss (ARNSHL) is gap junction protein beta-2 (GJB2) which codes for connexin 26 ...common GJB2 gene ...
5
Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
... of GJB2 screening performed to date have indi- cated that a substantial fraction of patients (6-15%) carry only one pathogenic mutation in the GJB2 gene with either recessive or unclear ...
7
Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syn-dromic Hearing Loss
... in GJB2 gene, encoding the gap junction beta-2 protein connexin 26 are estimated to be responsible for 10-50% of ARNSHL in many populations ...the GJB2 gene muta- tions only explain a fraction ...
8
Investigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
... the GJB2 gene do not contribute to the major genetic load of deafness in the Iranian population ...GJB4 gene (OMIM# 605425) located on chromosome ...
5
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
... Mutations in the GJB2 gene are respon- sible for up to 50% of all cases of autosomal recessive hearing impairment in most of the populations tested so far, with a frequent mutation (35de[r] ...
41
Original Article Molecular genetics study of the locus of the midrange sensorineural deafness unique to the non-syndromes of ethnic minorities in Yunnan province
... the GJB2 gene mutation (16/150, ...C26A4 gene mutation in the experimental group, including 3 cases of Bai, 2 cases of Hani, and 4 cases of ...12SrRNA gene muta- tions, 2 cases of Bai, Hani ...
7
Functional Evaluation of GJB2 Variants in Nonsyndromic Hearing Loss
... the GJB2 gene are the major cause of nonsyndromic HL in many populations ...in GJB2, which occur frequently in East Asian popula- tions, have been reported as either poly- morphisms or mutations ...
7
Original Article Mutation of genes associated with hearing loss levels in the southern Fujian area of China
... the GJB2 gene have been reported to be the most widespread molecular defects in the Chinese deaf population [27, 28], with ...the GJB2 gene could occupy the molecular etiology of 8 to 72 ...
10
Specific Distribution of GJB2 Mutations in Kurdistan Province of Iran; Report of a Relatively Isolated Population
... PCR-Sequencing and Screening of GJB2 Exons From each pedigree, one affected member was sequenced for exon1 and 2 of GJB2 gene. Following primers were used for amplification of exon1 forward: ...
7
Original Article Genetic mutations of deafness-related gene among pregnant women in Fujian province of South China
... Hearing loss is one of the most common losses of meaningful function in human, and poses a persistent threat to public health worldwide [1]. Approximately 10% of people have mild or mod- erate hearing loss [2]. Genetic ...
6
Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum
... Province), GJB2 gene mu- tations account for the etiology of approximately ...the GJB2 or SLC26A4 gene was found, and the mi- tochondrial ...
8
The Association Between GJB2 Mutation and GJB6 Gene in Non Syndromic Hearing Loss School Children
... A GJB2 mutation is one of the causes of non-syndromic hearing ...one GJB2 mutant allele complicates the molecular diagnosis of DFNB1 ...GJB6 gene which encodes connexin30 ...between GJB2 ...
5
Genetic Linkage Analysis of DFNB4, DFNB28, DFNB93 Loci in Autosomal Recessive Non-syndromic Hearing Loss: Evidence for Digenic Inheritance in GJB2 and GJB3 Mutations
... Negative and heterozygous samples for GJB2 gene mutations were tested for GJB3. PCR was performed to amplify the entire coding sequence of GJB3 with F primer: 5` GTCAC- CTATTCATTCATACGATGG3`andR primer: 5` ...
8
Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations
... The genetic etiology of ARNSHL in Iran has been studied by a number of independent studies with a special focus on the certain locus DFNB1 (GJB2), as the most common cause of HL all over the world (3). Variants in ...
10
The role of gene GJB2 and connexin 26 in hearing impairment
... the GJB2 gene oc- curs, the cysteine residue in position 169 is replaced by a tyrosine, resulting in the loss of one disulfide bridge that is binding two ...using gene therapy in near ...
7
Review: Deaf mute or Deaf
... There are a large number of genes that can cause deafness. More than half of all genetic cases in some of the populations are due to recessive mutations at a single locus, GJB2 (gene gap junction protein ...
10
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China
... monoallelic GJB2 coding region mutations in the heterozygous state, 94 carried two confirmed pathogenic mutations including 79 homozygotes and 15 compound ...of GJB2 gene mutations in 658 patients ...
10
Mutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNB Loci in the Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss
... screening GJB2 mutations and two GJB6 deletions including D13S1830 and D13S1854, the genetic linkage and haplotype analysis was carried out by STR markers for the 5 studied DFNB ...Since GJB2 mutations ...
8