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- Title
Evaluation of buccal swabs for pharmacogenetics.
- Authors
Ang, J. Sidney; Aloise, Martin N.; Dawes, Diana; Dempster, Maryn G.; Fraser, Robert; Paterson, Andrea; Stanley, Paul; Suarez-Gonzalez, Adriana; Dawes, Martin; Katzov-Eckert, Hagit
- 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 <italic>CYP2D6</italic> 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.
- Subjects
PHARMACOGENOMICS; BUCCAL administration; DNA copy number variations; POLYMERASE chain reaction; GENOTYPES
- Publication
BMC Research Notes, 2018, Vol 11, Issue 1, pN.PAG
- ISSN
1756-0500
- Publication type
Article
- DOI
10.1186/s13104-018-3476-5