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  • ISSN 1674-8301
  • CN 32-1810/R
Volume 25 Issue 5
Aug.  2011
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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

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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).

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  • Received Date: March 22, 2011
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    • 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.
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