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Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay
Joint Authors
Zhang, Fengguo
Xiao, Yun
Xu, Lei
Zhang, Xue
Zhang, Guodong
Li, Jianfeng
Lv, Huaiqing
Bai, Xiaohui
Wang, Haibo
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-05-09
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Zhang, Fengguo& Xiao, Yun& Xu, Lei& Zhang, Xue& Zhang, Guodong& Li, Jianfeng…[et al.]. 2016. Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. BioMed Research International،Vol. 2016, no. 2016, pp.1-7.
https://search.emarefa.net/detail/BIM-1096849
Modern Language Association (MLA)
Zhang, Fengguo…[et al.]. Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. BioMed Research International No. 2016 (2016), pp.1-7.
https://search.emarefa.net/detail/BIM-1096849
American Medical Association (AMA)
Zhang, Fengguo& Xiao, Yun& Xu, Lei& Zhang, Xue& Zhang, Guodong& Li, Jianfeng…[et al.]. Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay. BioMed Research International. 2016. Vol. 2016, no. 2016, pp.1-7.
https://search.emarefa.net/detail/BIM-1096849
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1096849