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High fractions of exogenous DNA in human buccal samples reduce the quality of large-scale genotyping

2008; Elsevier BV; Volume: 383; Issue: 2 Linguagem: Inglês

10.1016/j.ab.2008.08.015

1096-0309

David López Herráez, Mark Stoneking,

Head and Neck Cancer Studies

Buccal cell samples are considered a reliable source of DNA for genotyping studies. However, a potential drawback is the presence of exogenous DNA that is coextracted with human genomic DNA. A set of saliva and cheek swab samples, in which the fraction of human DNA varies from 10 to 96%, was genotyped using the Affymetrix Mapping 500 K Array. Samples containing less than 30% human DNA performed poorly in terms of accuracy and reliability. Therefore, we recommend quantitating the amount of human DNA in buccal samples to be used for large-scale genotyping and eliminating samples with less than 30% human DNA.