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Tianjin, China

Zhao Y.,Chinese PLA General Hospital | Zhao Y.,Capital Medical University | Wang D.,Chinese PLA General Hospital | Zong L.,Chinese PLA General Hospital | And 13 more authors.
PLoS ONE | Year: 2014

Mutations in the transmembrane channel-like gene 1 (TMC1) can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing post-lingual, progressive sensorineural hearing loss which were consistent with DFNA36 hearing loss. Auditory brainstem response (ABR) test of the youngest patient showed a special result with nearly normal threshold but prolonged latency, decreased amplitude, and the abnormal waveform morphology. Exome sequencing of the proband found four candidate variants in known hearing loss genes. Sanger sequencing in all family members found a novel variant c.1253T>A (p.M418K) in TMC1 at DFNA36 that co-segregated with the phenotype. This mutation in TMC1 is orthologous to the mutation found in the hearing loss mouse model named Bth ten years ago. In another 51 Chinese autosomal dominant hearing loss families, we screened the segments containing the dominant mutations of TMC1 and no functional variants were found. TMC1 is expressed in the hair cells in inner ear. Given the already known roles of TMC1 in the mechanotransduction in the cochlea and its expression in inner ear, our results may provide an interesting perspective into its function in inner ear. © 2014 Zhao et al. Source

Wang D.,Chinese National Institute for Communicable Disease Control and Prevention | Wang D.,Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases | Zhou H.,Chinese National Institute for Communicable Disease Control and Prevention | Zhou H.,Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases | And 2 more authors.
European Journal of Clinical Microbiology and Infectious Diseases | Year: 2015

Group B Streptococcus (GBS) is one of the major pathogens of severe newborn sepsis and meningitis. Understanding its regional molecular epidemiology is helpful for regulating efficient prevention practice. A total of 160 GBS strains were collected from colonized pregnant women in six hospital settings in Beijing, China. Polymerase chain reaction (PCR) assays were used to identify the pilus island (PI), alp genes profiling of the alpha-like protein family, and capsular polysaccharide (cps) serotyping. The clonal relationships between strains were investigated using multilocus sequence typing (MLST). All isolates carried at least one pilus island. The most frequently detected pilus island was PI-2a alone (70 isolates, 43.8 %). The most prevalent alp gene was rib (60 isolates, 37.5 %). Moreover, a strong association was noted between alp genes, serotyping, and pilus island profiles. The GBS isolates under study hinted similar molecular epidemical characteristics in Beijing to those reported worldwide, but having their regional distributional features. © 2015, Springer-Verlag Berlin Heidelberg. Source

Ge S.,Central South University | Wang X.,BGI Tianjin | Xie J.,Central South University | Yi X.,CAS Beijing Institute of Genomics | Liu F.,Central South University
Annals of Hepatology | Year: 2014

Aim. Recent studies have suggested miRNA dysregulation in liver tissue mediates the pathogenesis of various liver diseases especially liver fibrosis, but the microRNA changes during PS-induced hepatic fibrosis are still unknown. The purpose of this study was to screen the miRNA differences in rat liver fibrosis model and clarify the relationship of miRNAs with the development of PS-induced liver fibrosis. Material and methods. Two fibrotic and two normal liver tissues from 20 Sprague-Dawley rats were collected and sequenced. MiRNA profiling results and fibrosis-related genes were validated by quantitative real-time polymerase chain reaction (qRT-PCR) and bioinformatics was used to predict miRNA targets. Results. In total, 48 miRNAs were detected to be aberrantly expressed in fibrosis tissue compared to normal tissue. Further functional analysis of the deregulated miRNA targets revealed the miRNAs are involved in several biological functions and pathways. In addition, the expression level of miR-27a and miR-146b and fibrosis-related genes were significantly up-regulated by using qRT-PCR in fibrotic liver tissues when compared to the normal liver tissues. Conclusion. PS-induced hepatic fibrosis results in up-regulation of the miR-27a and miR-146b in liver tissues, suggestingmiR-27a and miR-146b would be associated with the development of PS-induced liver fibrosis and be potential therapeutic targets during hepatic fibrosis. Source

Gao X.,Chinese PLA General Hospital | Su Y.,Chinese PLA General Hospital | Guan L.-P.,BGI Shenzhen | Yuan Y.-Y.,Chinese PLA General Hospital | And 9 more authors.
PLoS ONE | Year: 2013

Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited sensorineural hearing loss by using whole-exome sequencing in a family with two deaf siblings. Sanger sequencing confirmed that both siblings inherited a missense mutation, c.589G>A p.G197R (maternal allele), and a nonsense mutation, c.1171C>T p.Q391X (paternal allele), in TMC1. We also used DNA from 50 Chinese familial patients with ARNSHL and 208 ethnicity-matched negative samples to perform extended variants analysis. Both variants co-segregated in family 1953, which had the hearing loss phenotype, but were absent in 50 patients and 208 ethnicity-matched controls. Therefore, we concluded that the hearing loss in this family was caused by novel compound heterozygous mutations in TMC1. © 2013 Gao et al. Source

Yuan Y.,Shenzhen Birth Defect Screening Project Laboratory | Jiang F.,Shenzhen Birth Defect Screening Project Laboratory | Hua S.,Shenzhen Birth Defect Screening Project Laboratory | Du B.,Shenzhen Birth Defect Screening Project Laboratory | And 11 more authors.
Clinical Chemistry | Year: 2013

BACKGROUND: Noninvasive prenatal detection of common fetal aneuploidies with cell-free DNA from maternal plasma has been achieved with high-throughput next-generation sequencing platforms. Turnaround times for previously tested platforms are still unsatisfactory for clinical applications, however, because of the time spent on sequencing. The development of semiconductor sequencing technology has provided a way to shorten overall run times. We studied the feasibility of using semiconductor sequencing technology for the noninvasive detection of fetal aneuploidy. METHODS: Maternal plasma DNA from 13 pregnant women, corresponding to 4 euploid, 6 trisomy 21 (T21), 2 trisomy 18 (T18), and 1 trisomy 13 (T13) pregnancies, were sequenced on the Ion Torrent Personal Genome Machine sequencer platform with 318 chips. The data were analyzed with the T statistic method after correcting for GC bias, and the T value was calculated as an indicator of fetal aneuploidy. RESULTS: We obtained a mean of 3 524 401 high-quality reads per sample, with an efficiency rate of 77.9%. All of the T21, T13, and T18 fetuses could be clearly distinguished from euploid fetuses, and the time spent on library preparation and sequencing was 24 h. CONCLUSIONS: Semiconductor sequencing represents a suitable technology for the noninvasive prenatal detection of fetal aneuploidy. With this platform, sequencing times can be substantially reduced; however, a further larger-scale study is needed to determine the imprecision of noninvasive fetal aneuploidy detection with this system. Source

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