Associations between GJB2, Mitochondrial 12S rRNA, SLC26A4 Mutations, and Hearing Loss among Three Ethnicities

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Associations between GJB2, Mitochondrial 12S rRNA, SLC26A4 Mutations, and Hearing Loss among Three Ethnicities

The epidemiological researches show that the mutations of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes have played an important role in the hearing loss. This study aims to investigate the mutation spectrum of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes of Han Chinese, Hui people, and Uyghur ethnicities in sensorineural hearing loss (SNHL) patients in northwest of China. Mutational analy...

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GJB2 and SLC26A4 gene mutations in children with non-syndromic hearing loss in Southern China

Non-syndromic hearing loss (NSHL) is a major public health issue and affects a substantial proportion of newborns worldwide. Currently little information is available about the molecular etiology of hearing impairment in the Chinese population. Therefore, this study aimed to perform a comprehensive investigation on the genetic mutation patterns of non-syndromic deafness in Zhongshan City, a cit...

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Microarray-based mutation detection of pediatric sporadic nonsyndromic hearing loss in China.

OBJECTIVE To investigate the molecular etiologic causes of sporadic nonsyndromic hearing loss in Chinese children. METHODS 179 sporadic nonsyndromic hearing loss children were subjected to microarray-based mutation detection for nine hot spot mutations in four of the most common deafness-related genes, including GJB2, SLC26A4, GJB3, and 12s rRNA. RESULTS The incidence of positive genetic er...

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Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients.

Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and mutations in the tRNASer(UCN) gene in...

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Mutation of genes associated with hearing loss levels in the southern Fujian area of China

Objective: The objective of this study is to examine loci’s mutation frequencies for the four widespread deafness-associated genes in Han Chinese with hearing loss in the southern Fujian region and to establish the correlation between hearing loss levels and nucleotide modifications. Methods: Microarray-based mutation was detected nine hot spot mutations of the most prevalent deafness-related g...

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ژورنال

عنوان ژورنال: BioMed Research International

سال: 2014

ISSN: 2314-6133,2314-6141

DOI: 10.1155/2014/746838