Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.
The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (N...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2017-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0169219 |
| _version_ | 1797755760411672576 |
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| author | Denise Yan Guangxin Xiang Xingping Chai Jie Qing Haiqiong Shang Bing Zou Rahul Mittal Jun Shen Richard J H Smith Yao-Shan Fan Susan H Blanton Mustafa Tekin Cynthia Morton Wanli Xing Jing Cheng Xue Zhong Liu |
| author_facet | Denise Yan Guangxin Xiang Xingping Chai Jie Qing Haiqiong Shang Bing Zou Rahul Mittal Jun Shen Richard J H Smith Yao-Shan Fan Susan H Blanton Mustafa Tekin Cynthia Morton Wanli Xing Jing Cheng Xue Zhong Liu |
| author_sort | Denise Yan |
| collection | DOAJ |
| description | The unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL), GJB2, GJB6, SLC26A4, and mitochondrial (mt) MT-RNR1 and MTTS are the major contributors. In order to provide a faster, more comprehensive and cost effective assay, we constructed a DNA fluidic array, CapitalBioMiamiOtoArray, for the detection of sequence variants in five genes that are common in most populations of European descent. They consist of c.35delG, p.W44C, p.L90P, c.167delT (GJB2); 309kb deletion (GJB6); p.L236P, p.T416P (SLC26A4); and m.1555A>G, m.7444G>A (mtDNA). We have validated our hearing loss array by analyzing a total of 160 DNAs samples. Our results show 100% concordance between the fluidic array biochip-based approach and the established Sanger sequencing method, thus proving its robustness and reliability at a relatively low cost. |
| first_indexed | 2024-03-12T17:51:50Z |
| format | Article |
| id | doaj.art-b3e763a4b1d042b89edcf775468cd572 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-03-12T17:51:50Z |
| publishDate | 2017-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-b3e763a4b1d042b89edcf775468cd5722023-08-03T05:30:51ZengPublic Library of Science (PLoS)PLoS ONE1932-62032017-01-01123e016921910.1371/journal.pone.0169219Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.Denise YanGuangxin XiangXingping ChaiJie QingHaiqiong ShangBing ZouRahul MittalJun ShenRichard J H SmithYao-Shan FanSusan H BlantonMustafa TekinCynthia MortonWanli XingJing ChengXue Zhong LiuThe unparalleled heterogeneity in genetic causes of hearing loss along with remarkable differences in prevalence of causative variants among ethnic groups makes single gene tests technically inefficient. Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL), GJB2, GJB6, SLC26A4, and mitochondrial (mt) MT-RNR1 and MTTS are the major contributors. In order to provide a faster, more comprehensive and cost effective assay, we constructed a DNA fluidic array, CapitalBioMiamiOtoArray, for the detection of sequence variants in five genes that are common in most populations of European descent. They consist of c.35delG, p.W44C, p.L90P, c.167delT (GJB2); 309kb deletion (GJB6); p.L236P, p.T416P (SLC26A4); and m.1555A>G, m.7444G>A (mtDNA). We have validated our hearing loss array by analyzing a total of 160 DNAs samples. Our results show 100% concordance between the fluidic array biochip-based approach and the established Sanger sequencing method, thus proving its robustness and reliability at a relatively low cost.https://doi.org/10.1371/journal.pone.0169219 |
| spellingShingle | Denise Yan Guangxin Xiang Xingping Chai Jie Qing Haiqiong Shang Bing Zou Rahul Mittal Jun Shen Richard J H Smith Yao-Shan Fan Susan H Blanton Mustafa Tekin Cynthia Morton Wanli Xing Jing Cheng Xue Zhong Liu Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. PLoS ONE |
| title | Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. |
| title_full | Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. |
| title_fullStr | Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. |
| title_full_unstemmed | Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. |
| title_short | Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. |
| title_sort | screening of deafness causing dna variants that are common in patients of european ancestry using a microarray based approach |
| url | https://doi.org/10.1371/journal.pone.0169219 |
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