Evaluation of buccal swabs for pharmacogenetics
Abstract Objective A simple, non-invasive sample collection method is key for the integration of pharmacogenetics into clinical practice. The aim of this study was to gain samples for pharmacogenetic testing and evaluate the variation between dry-flocked and sponge-tipped buccal swabs in yield and q...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-06-01
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| Series: | BMC Research Notes |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13104-018-3476-5 |
| _version_ | 1819179520078381056 |
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| author | J. Sidney Ang Martin N. Aloise Diana Dawes Maryn G. Dempster Robert Fraser Andrea Paterson Paul Stanley Adriana Suarez-Gonzalez Martin Dawes Hagit Katzov-Eckert |
| author_facet | J. Sidney Ang Martin N. Aloise Diana Dawes Maryn G. Dempster Robert Fraser Andrea Paterson Paul Stanley Adriana Suarez-Gonzalez Martin Dawes Hagit Katzov-Eckert |
| author_sort | J. Sidney Ang |
| collection | DOAJ |
| description | Abstract Objective A simple, non-invasive sample collection method is key for the integration of pharmacogenetics into clinical practice. The aim of this study was to gain samples for pharmacogenetic testing and evaluate the variation between dry-flocked and sponge-tipped buccal swabs in yield and quality of DNA isolated. Results Thirty-one participants collected samples using dry-flocked swabs and sponge-tipped swabs. Samples were assessed for DNA yield, quality and genotyping performance on a qPCR OpenArray platform of 28 pharmacogenetic SNPs and a CYP2D6 TaqMan copy number variant. DNA from sponge-tipped swabs had a significantly greater yield compared to DNA collected with dry-flocked swabs (p = 4.4 × 10−7). Moreover, highest genotyping call rates across all assays and highest CNV confidence scores were observed in DNA samples collected from sponge-tipped swabs (97% vs. 54% dry-flocked swabs; 0.99 vs. 0.88 dry-flocked swabs, respectively). Sample collection using sponge-tipped swabs provides a DNA source of sufficient quantity and quality for pharmacogenetic variant detection using qPCR. |
| first_indexed | 2024-12-22T21:59:45Z |
| format | Article |
| id | doaj.art-626c8179f91c49438d592775f4924cd7 |
| institution | Directory Open Access Journal |
| issn | 1756-0500 |
| language | English |
| last_indexed | 2024-12-22T21:59:45Z |
| publishDate | 2018-06-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Research Notes |
| spelling | doaj.art-626c8179f91c49438d592775f4924cd72022-12-21T18:11:08ZengBMCBMC Research Notes1756-05002018-06-011111510.1186/s13104-018-3476-5Evaluation of buccal swabs for pharmacogeneticsJ. Sidney Ang0Martin N. Aloise1Diana Dawes2Maryn G. Dempster3Robert Fraser4Andrea Paterson5Paul Stanley6Adriana Suarez-Gonzalez7Martin Dawes8Hagit Katzov-Eckert9GenXys Health Care Systems Inc.GenXys Health Care Systems Inc.GenXys Health Care Systems Inc.GenXys Health Care Systems Inc.Molecular You Inc.GenXys Health Care Systems Inc.GenXys Health Care Systems Inc.GenXys Health Care Systems Inc.GenXys Health Care Systems Inc.GenXys Health Care Systems Inc.Abstract Objective A simple, non-invasive sample collection method is key for the integration of pharmacogenetics into clinical practice. The aim of this study was to gain samples for pharmacogenetic testing and evaluate the variation between dry-flocked and sponge-tipped buccal swabs in yield and quality of DNA isolated. Results Thirty-one participants collected samples using dry-flocked swabs and sponge-tipped swabs. Samples were assessed for DNA yield, quality and genotyping performance on a qPCR OpenArray platform of 28 pharmacogenetic SNPs and a CYP2D6 TaqMan copy number variant. DNA from sponge-tipped swabs had a significantly greater yield compared to DNA collected with dry-flocked swabs (p = 4.4 × 10−7). Moreover, highest genotyping call rates across all assays and highest CNV confidence scores were observed in DNA samples collected from sponge-tipped swabs (97% vs. 54% dry-flocked swabs; 0.99 vs. 0.88 dry-flocked swabs, respectively). Sample collection using sponge-tipped swabs provides a DNA source of sufficient quantity and quality for pharmacogenetic variant detection using qPCR.http://link.springer.com/article/10.1186/s13104-018-3476-5Sample collectionBuccal swabsOpenArrayCopy number variationPharmacogenetics |
| spellingShingle | J. Sidney Ang Martin N. Aloise Diana Dawes Maryn G. Dempster Robert Fraser Andrea Paterson Paul Stanley Adriana Suarez-Gonzalez Martin Dawes Hagit Katzov-Eckert Evaluation of buccal swabs for pharmacogenetics BMC Research Notes Sample collection Buccal swabs OpenArray Copy number variation Pharmacogenetics |
| title | Evaluation of buccal swabs for pharmacogenetics |
| title_full | Evaluation of buccal swabs for pharmacogenetics |
| title_fullStr | Evaluation of buccal swabs for pharmacogenetics |
| title_full_unstemmed | Evaluation of buccal swabs for pharmacogenetics |
| title_short | Evaluation of buccal swabs for pharmacogenetics |
| title_sort | evaluation of buccal swabs for pharmacogenetics |
| topic | Sample collection Buccal swabs OpenArray Copy number variation Pharmacogenetics |
| url | http://link.springer.com/article/10.1186/s13104-018-3476-5 |
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