Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan AssayReportar como inadecuado




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BioMed Research International - Volume 2016 2016, Article ID 1302914, 7 pages -

Research Article

Department of Otorhinolaryngology Head and Neck Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250022, China

Shandong Provincial Key Laboratory of Otology, Jinan 250022, China

Department of Otorhinolaryngology Head and Neck Surgery, People’s Hospital of Linyi, Linyi, China

Received 15 January 2016; Revised 6 April 2016; Accepted 17 April 2016

Academic Editor: Hideaki Moteki

Copyright © 2016 Fengguo Zhang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Hearing loss is a common sensory disorder, and at least 50% of cases are due to a genetic etiology. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss, GJB2, SLC26A4, and mtDNA12SrRNA are the major contributors. However, the mutation spectrum of these common deafness genes varies among different ethnic groups. The present work summarized mutations in these three genes and their prevalence in 339 patients with nonsyndromic hearing loss at three different special education schools and one children’s hospital in Linyi, China. A new multiplex genetic screening system -SNPscan assay- was employed to detect a total of 115 mutations of the above three genes. Finally, 48.67% of the patients were identified with hereditary hearing loss caused by mutations in GJB2, SLC26A4, and mtDNA12SrRNA. The carrying rate of mutations in the three genes was 37.76%, 19.75%, and 4.72%, respectively. This mutation profile in our study is distinct from other parts of China, with high mutation rate of GJB2 suggesting a unique mutation spectrum in this area.





Autor: Fengguo Zhang, Yun Xiao, Lei Xu, Xue Zhang, Guodong Zhang, Jianfeng Li, Huaiqing Lv, Xiaohui Bai, and Haibo Wang

Fuente: https://www.hindawi.com/



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