Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay
المؤلفون المشاركون
Zhang, Fengguo
Xiao, Yun
Xu, Lei
Zhang, Xue
Zhang, Guodong
Li, Jianfeng
Lv, Huaiqing
Bai, Xiaohui
Wang, Haibo
المصدر
العدد
المجلد 2016، العدد 2016 (31 ديسمبر/كانون الأول 2016)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2016-05-09
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1096849
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر