4.6

CiteScore

2.2

Impact Factor
  • ISSN 1674-8301
  • CN 32-1810/R
Volume 25 Issue 5
Aug.  2011
Turn off MathJax
Article Contents
Abstract
Related Articles
Yajie Lu, Dachun Dai, Zhibin Chen, Xin Cao, Xingkuan Bu, Qinjun Wei, Guangqian Xing. Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China[J]. The Journal of Biomedical Research, 2011, 25(5): 309-318. DOI: 10.1016/S1674-8301(11)60042-0
Citation: Yajie Lu, Dachun Dai, Zhibin Chen, Xin Cao, Xingkuan Bu, Qinjun Wei, Guangqian Xing. Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China[J]. The Journal of Biomedical Research, 2011, 25(5): 309-318. DOI: 10.1016/S1674-8301(11)60042-0
shu

Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China

  • 1.

    Department of Biotechnology, Nanjing Medical University, Nanjing, Jiangsu 210029, China

  • 2.

    Department of Otolaryngology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029,China

Funds: 

This work was supported by the Research Grant Award from the Na-tional Natural Science Foundation of China (No.31171217), the Open Research Grant of Medical Key Department (No.XF200719) from Jiangsu Province (No. KF200910) and Technology Developmental Program from Nanjing Medical University (No.09NJMUM005).

More Information
  • Received Date: March 22, 2011
    Graphical Abstract
    • Abstract
  • Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of hearing loss in the Chinese population, we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss (NSHL) for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA, tRNASer(UCN) by PCR amplification and direct DNA sequencing. The carrier frequencies of deafness-causing mutations in these patients were 35.55% in GJB2, 3.70% in GJB6, 15.56% in SLC26A4 and 8.14% in mitochondrial 12SrRNA, re-spectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chi-nese population with nonsyndromic hearing loss.
    • FullText(HTML)
    • References (0)
    • Related Articles

  • Related Articles

    [1]McKay Alexander, Burgio Gaetan. Harnessing CRISPR-Cas system diversity for gene editing technologies[J]. The Journal of Biomedical Research, 2021, 35(2): 91-106. DOI: 10.7555/JBR.35.20200184
    [2]Huanqiang Wang, Congying Yang, Siyuan Wang, Tian Wang, Jingling Han, Kai Wei, Fucun Liu, Jida Xu, Xianzhen Peng, Jianming Wang. Cell-free plasma hypermethylated CASZ1, CDH13 and ING2 are promising biomarkers of esophageal cancer[J]. The Journal of Biomedical Research, 2018, 32(6): 424-433. DOI: 10.7555/JBR.32.20170065
    [3]Nyamongo Onkoba, Ruth M. Mumo, Horace Ochanda, Charles Omwandho, Hastings S. Ozwara, Thomas G. Egwang. Safety, immunogenicity, and cross-species protection of a plasmid DNA encoding Plasmodium falciparum SERA5 polypeptide, microbial epitopes and chemokine genes in mice and olive baboons[J]. The Journal of Biomedical Research, 2017, 31(4): 321-332. DOI: 10.7555/JBR.31.20160025
    [4]Yan Chen, Shiwei Yang, Jun Li, Gannan Wang, Yuming Qin, Daowu Wang, Kejiang Cao. Pediatric restrictive cardiomyopathy due to a heterozygous mutation of the TNNI3 gene[J]. The Journal of Biomedical Research, 2014, 28(1): 59-63. DOI: 10.7555/JBR.28.20120105
    [5]Meilin Wang, Haiyan Chu, Zhengdong Zhang, Qingyi Wei. Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer[J]. The Journal of Biomedical Research, 2013, 27(3): 179-192. DOI: 10.7555/JBR.27.20130034
    [6]Qin Cui, Wen Wang, Zhenzhen Fu, Xin Shao, Zhihong Zhang, Mei Zhang, Xianxia Ju, Kunlin Wang, Jiawei Chen, Hongwen Zhou. Integrated DNA-based/biochemical screening for early diagnosis of multiple endocrine neoplasia type 2A (MEN2A)[J]. The Journal of Biomedical Research, 2013, 27(2): 145-150. DOI: 10.7555/JBR.27.20120121
    [7]Mani Udayakumar, Palaniyandi Shanmuga-priya, Kamalakannan Hemavathi, Rengasamy Seenivasagam. Active motif finder - a bio-tool based on mutational structures in DNA sequences[J]. The Journal of Biomedical Research, 2011, 25(6): 444-448. DOI: 10.1016/S1674-8301(11)60059-6
    [8]Chunyan Cheng, Yuan Lin, Fan Yang, Wenjing Wang, Chong Wu, Jingli Qin, Xiuqin Shao, Lei Zhou. Mutational screening of affected cardiac tissues and peripheral blood cells identified novel somatic mutations in GATA4 in patients with ventricular septal defect[J]. The Journal of Biomedical Research, 2011, 25(6): 425-430. DOI: 10.1016/S1674-8301(11)60056-0
    [9]Jin Wu, Yongli Lin, Wenrong Xu, Zhongming Li, Weixin Fan. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix[J]. The Journal of Biomedical Research, 2011, 25(1): 49-55. DOI: 10.1016/S1674-8301(11)60006-7
    [10]Bo Cui, Stewart P. Johnson, Nancy Bullock, Francis Ali-Osman, Darell D. Bigner, Henry S. Friedman. Decoupling of DNA damage response signaling from DNA damages underlies temozolomide resistance in glioblastoma cells[J]. The Journal of Biomedical Research, 2010, 24(6): 424-435. DOI: 10.1016/S1674-8301(10)60057-7

Catalog

    Get Citation
    PDF
    XML

    Article Metrics

    Article has an altmetric score of 3
    Article has an altmetric score of 3
    Article views (3649) PDF downloads (1736) Cited by()
    Related

    ©2023 by the Editorial Department of the Journals of Nanjing Medical University. All rights reserved.   苏ICP备05071376号-5

    Supported by: Beijing Renhe Information Technology Co., Ltd. E-mail: info@rhhz.net  Baidu Analytics

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return