High fractions of exogenous DNA in human buccal samples reduce the quality of large-scale genotyping.
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.
Herráez
David López
DL
Max Planck Institute for Evolutionary Anthropology, D-04103 Leipzig, Germany. david_lopez@eva.mpg.de
Stoneking
Mark
M
D016477:Artifacts; D002610:Cheek; D004247:DNA / Q000032:analysis* / Q000235:genetics / Q000302:isolation & purification*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
D004247:DNA