A call for mtDNA data quality control in forensic science.
There is increasing evidence that many of the mitochondrial DNA (mtDNA) databases published in the fields of forensic science and molecular anthropology are flawed. An a posteriori phylogenetic analysis of the sequences could help to eliminate most of the errors and thus greatly improve data quality. However, previously published caveats and recommendations along these lines were not yet picked up by all researchers. Here we call for stringent quality control of mtDNA data by haplogroup-directed database comparisons. We take some problematic databases of East Asian mtDNAs, published in the Journal of Forensic Sciences and Forensic Science International, as examples to demonstrate the process of pinpointing obvious errors. Our results show that data sets are not only notoriously plagued by base shifts and artificial recombination but also by lab-specific phantom mutations, especially in the second hypervariable region (HVR-II).
Yao
Yong-Gang
YG
Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China.
Bravi
Claudio M
CM
Bandelt
Hans-Jürgen
HJ
D016172:DNA Fingerprinting / Q000592:standards*; D004272:DNA, Mitochondrial / Q000235:genetics*; D019992:Databases as Topic / Q000592:standards*; D006239:Haplotypes; D006801:Humans; D010802:Phylogeny; D011786:Quality Control
D004272:DNA, Mitochondrial