DC Field | Value | Language |
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dc.contributor.author | Patel, K | - |
dc.contributor.author | Bhatt, A. D | - |
dc.contributor.author | Shah, K., | - |
dc.contributor.author | Waghela, B. N | - |
dc.contributor.author | Pandit, R. J. R. J. | - |
dc.contributor.author | Sheth, H. | - |
dc.contributor.author | Joshi, M. | - |
dc.date.accessioned | 2024-11-25T11:13:51Z | - |
dc.date.available | 2024-11-25T11:13:51Z | - |
dc.date.issued | 2021 | - |
dc.identifier.citation | Patel, K. M., Bhatt, A. D., Shah, K., Waghela, B. N., Pandit, R. J., Sheth, H., ... & Joshi, M. N. (2021). Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing. Frontiers in Genetics, 12, 770350. | en_US |
dc.identifier.uri | http://10.9.150.37:8080/dspace//handle/atmiyauni/2033 | - |
dc.description.abstract | Muscular Dystrophies (MDs) are a group of inherited diseases and heterogeneous in nature. To date, 40 different genes have been reported for the occurrence and/or progression of MDs. This study was conducted to demonstrate the application of next-generation sequencing (NGS) in developing a time-saving and cost-effective diagnostic method to detect single nucleotide variants (SNVs) and copy number variants (CNVs) in a single test. A total of 123 cases clinically suspected of MD were enrolled in this study. Amplicon panel-based diagnosis was carried out for 102 (DMD/BMD) cases and the results were further screened using multiplex ligation-dependent probe amplification (MLPA). Whilst in the case of LGMD (N = 19) and UMD (N = 2), only NGS panel-based analysis was carried out. We identified the large deletions in 74.50% (76/102) of the cases screened with query DMD or BMD. Further, the large deletion in CAPN3 gene (N = 3) and known SNV mutations (N = 4) were identified in LGMD patients. Together, the total diagnosis rate for this amplicon panel was 70.73% (87/123) which demonstrated the utility of panel-based diagnosis for high throughput, affordable, and time-saving diagnostic strategy. Collectively, present study demonstrates that the panel based NGS sequencing could be superior over to MLPA. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Frontiers in Genetics | en_US |
dc.subject | next generation sequencing | en_US |
dc.subject | multiplex ligation-dependent probe amplification | en_US |
dc.subject | muscular dystrophy | en_US |
dc.subject | becker muscular dystrophy | en_US |
dc.subject | limb-girdle muscular | en_US |
dc.subject | dystrophies, congenital | en_US |
dc.title | Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing | en_US |
dc.type | Article | en_US |
Appears in Collections: | 01. Journal Articles |
Files in This Item:
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Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian.pdf | 888.97 kB | Adobe PDF | View/Open |
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