Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
المؤلفون المشاركون
Chen, Yu
Lu, Yu
Kuyaxi, Pilidong
Cheng, Jing
Zhao, Juan
Zhao, Qi
Musha, Patiguli
Zhang, Hua
Yuan, Huijun
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-03-05
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
We aim to identify the mutations of deafness genes using massively parallel DNA sequencing in the 12 Uyghur families.
SNPscan method was used to screen against the 124 sites in the common deafness genes in probands.
Subjects with SNPscan negativity were subject to massively parallel DNA sequencing for the sequencing of 97 genes known to be responsible for hearing loss.
Eight families (66.7%) showed biallelic mutations in probands, including MYO15A mutation (6892C>T in J02 family, 9514C>T/7894G>T in J07 family, and 9514C>T in J16 family), MYO7A mutation (1258A>T in J03 family), TMC1 mutation (773G>A in J09 family and 1247T>G/1312G>A in J11 family), and PCDH15 mutation (4658delT in J08 and J13 families).
Six novel types of mutation were identified including 6892C>T, 9514C>T/7894G>T, and 9514C>T in MYO15A gene, 1258A>T in MYO7A, 773G>A in TMC1, and 4658delT in PCDH15.
The ratio of nonsense mutation and frameshift mutation was comparatively high.
All these indicated that the mutation types reported in this study were rare.
In conclusion, rare deafness genes were identified in the Uyghur families using massively parallel DNA sequencing, part of which were suggested to be related to the pathogenesis of the disease.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Chen, Yu& Lu, Yu& Kuyaxi, Pilidong& Cheng, Jing& Zhao, Juan& Zhao, Qi…[et al.]. 2018. Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique. Disease Markers،Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1153428
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Chen, Yu…[et al.]. Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique. Disease Markers No. 2018 (2018), pp.1-9.
https://search.emarefa.net/detail/BIM-1153428
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Chen, Yu& Lu, Yu& Kuyaxi, Pilidong& Cheng, Jing& Zhao, Juan& Zhao, Qi…[et al.]. Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique. Disease Markers. 2018. Vol. 2018, no. 2018, pp.1-9.
https://search.emarefa.net/detail/BIM-1153428
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1153428
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