Khiếm thính bẩm sinh ở trẻ sơ nếu được nhận sớm sẽ giúp phòng ngừa các biến chứng muộn ảnh hưởng đến chất lượng cuộc sống của sau này. Chương trình sàng lọc đột gene khiếm không chỉ chẩn đoán xác định tình trạng bất thường sớm, hiểu rõ nguyên nhân gây bệnh, mà còn mở ra nhiều cơ hội mới để cặp vợ chồng có thể biết nguy mắc bệnh con mình, cũng như tiếp cận với điều trị hơn. Thông qua khảo sát 58...

Hearing loss (HL) is a congenital disease with a high prevalence, and patients with hearing loss need early diagnosis for treatment and prevention. The GJB2, MT-RNR1, and SLC26A4 genes have been reported as common causative genes of hearing loss in the Korean population and some mutations of these genes are the most common mutations associated with hearing loss. Accordingly, we developed a meth...

The present study aimed to investigate the molecular etiology of nonsyndromic hearing impairment (HI) in hearing impaired populations of Hui, Tibetan, and Tu ethnicities in northwest China. A total of 283 unrelated subjects with HI who attended special education schools in northwest China were enrolled in the present study. Single-nucleotide polymorphisms (SNPs) in three common deafness‑related...

To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase chain reaction amplification and Sanger sequencing. The candidate variation and the co-segregation...

INTRODUCTION Several mitochondrial DNA mutations have been reported to be associated with nonsyndromic hearing loss in several families. However, little is known about the prevalence of these mutations in sporadic patients with nonsyndromic sensorineural hearing loss. OBJECTIVE The purpose of our study was to investigate the incidence of these mitochondrial DNA mutations in such population. ...

mutations in the gjb2 gene encoding connexin 26 (cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...

Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian populations, the 35delG mutation in this gene was found to account for up to 50% of cases of the genetic non-syndromic childhood deafness. In populations of non-European ethnic background, other GJB2 gene mutations are occasionally common, e.g. 1...

The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness-susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hear...

G ap junctions composed of connexins (Cx) are intercellular channels that provide a mechanism of synchronised cellular response facilitating the metabolic and electronic functions of the cell. At least 20 human Cx genes have been described, many of which harbour germline mutations that are associated with a variety of human diseases. Recessive mutations in the coding region of GJB2 encoding Cx2...

AIMS Mutations in the GJB2 gene-encoding connexin 26 protein are the main cause for autosomal recessive nonsyndromic hearing loss worldwide. In this study, we assessed the contributions made by GJB2 and del(GJB6-D13S1830) mutations to the autosomal recessive nonsyndromic deafness genetic load in Iranian Azeri Turkish patients. RESULTS Probands from 209 different nuclear families were investig...