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Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique

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 f...

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Autores principales: Chen, Yu, Lu, Yu, Kuyaxi, Pilidong, Cheng, Jing, Zhao, Juan, Zhao, Qi, Musha, Patiguli, Zhang, Hua, Yuan, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5859828/
https://www.ncbi.nlm.nih.gov/pubmed/29692870
http://dx.doi.org/10.1155/2018/5298057
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author Chen, Yu
Lu, Yu
Kuyaxi, Pilidong
Cheng, Jing
Zhao, Juan
Zhao, Qi
Musha, Patiguli
Zhang, Hua
Yuan, Huijun
author_facet Chen, Yu
Lu, Yu
Kuyaxi, Pilidong
Cheng, Jing
Zhao, Juan
Zhao, Qi
Musha, Patiguli
Zhang, Hua
Yuan, Huijun
author_sort Chen, Yu
collection PubMed
description 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.
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spelling pubmed-58598282018-04-24 Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique Chen, Yu Lu, Yu Kuyaxi, Pilidong Cheng, Jing Zhao, Juan Zhao, Qi Musha, Patiguli Zhang, Hua Yuan, Huijun Dis Markers Research Article 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. Hindawi 2018-03-05 /pmc/articles/PMC5859828/ /pubmed/29692870 http://dx.doi.org/10.1155/2018/5298057 Text en Copyright © 2018 Yu Chen et al. http://creativecommons.org/licenses/by/4.0/ 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.
spellingShingle Research Article
Chen, Yu
Lu, Yu
Kuyaxi, Pilidong
Cheng, Jing
Zhao, Juan
Zhao, Qi
Musha, Patiguli
Zhang, Hua
Yuan, Huijun
Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
title Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
title_full Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
title_fullStr Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
title_full_unstemmed Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
title_short Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique
title_sort identification of pathogenic genes of nonsyndromic hearing loss in uyghur families using massively parallel dna sequencing technique
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5859828/
https://www.ncbi.nlm.nih.gov/pubmed/29692870
http://dx.doi.org/10.1155/2018/5298057
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