OBJECTIVE Gene chip and gene sequencing techniques were used to detect the main pathogenic genes in pregnant women with hereditary hearing loss. PATIENTS AND METHODS From May 2015 to May 2016, 1080 pregnant in Xuzhou Maternal and Child Health Hospital were enrolled in this study. Women age range was 18 to 40 years. 4 genes and 9 mutation sites, including 4 sites (35delG, 176, 235delC and 299)...

Objective: The aim of this study is to establish a method by single nucleotide polymorphism detection from a single cell using the whole genomic amplification and restriction fragment length polymorphism-PCR (RFLPPCR). Methods: Genomic DNA was first prepared and wholly amplified from 80 biopsied blastomeres using the Sure Plex DNA Amplification System. Then, PCR was carried out on a single blas...

Mutations in the GJB2 gene are responsible for up to 50% of cases of non-syndromic recessive hearing loss, with c.35delG, c.167delT and c.235delC being the predominant mutations in many world populations. However, a large number of rare mutations in this gene may also contribute to hearing loss. The aim of the present study was to conduct a clinical and molecular characterization of a Chinese f...

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...