McMichael, G.Gibson, C.O'Callaghan, M.Goldwater, P.Dekker, G.Haan, E.MacLennan, A.2010-03-162010-03-162009Journal of Biomolecular Techniques, 2009; 20(5):232-2351524-02151943-4731http://hdl.handle.net/2440/56695Copyright © 2009 Association of Biomolecular Resource FacilitiesWe sought a convenient and reliable method for collection of genetic material that is inexpensive and noninvasive and suitable for self-collection and mailing and a compatible, commercial DNA extraction protocol to meet quantitative and qualitative requirements for high-throughput single nucleotide polymorphism (SNP) multiplex analysis on an automated platform. Buccal swabs were collected from 34 individuals as part of a pilot study to test commercially available buccal swabs and DNA extraction kits. DNA was quantified on a spectrofluorometer with Picogreen dsDNA prior to testing the DNA integrity with predesigned SNP multiplex assays. Based on the pilot study results, the Catch-All swabs and Isohelix buccal DNA isolation kit were selected for our high-throughput application and extended to a further 1140 samples as part of a large cohort study. The average DNA yield in the pilot study (n=34) was 1.94 μg ± 0.54 with a 94% genotyping pass rate. For the high-throughput application (n=1140), the average DNA yield was 2.44 μg ± 1.74 with a ≥93% genotyping pass rate. The Catch-All buccal swabs are a convenient and cost-effective alternative to blood sampling. Combined with the Isohelix buccal DNA isolation kit, they provided DNA of sufficient quantity and quality for high-throughput SNP multiplex analysis.ensingle nucleotide polymorphismJournal article00200948372-s2.0-7795366173036150McMichael, G. [0000-0002-6811-5301]O'Callaghan, M. [0000-0001-5038-5859] [0000-0002-8178-9714]Goldwater, P. [0000-0003-4822-8488]Dekker, G. [0000-0002-7362-6683]Haan, E. [0000-0002-7310-5124]