Highlights
- •We analyzed the most common West Eurasian mtDNA CR haplotype for the coding region.
- •We found 28 different coding region haplotypes in 29 samples identical in the CR.
- •We therefore increased forensic power of discrimination from 0% to 99.8%.
- •We dissected the most common West Eurasian haplotype into numerous haplogroups.
Abstract
The analysis of mitochondrial (mt)DNA is a powerful tool in forensic genetics when
nuclear markers fail to give results or maternal relatedness is investigated. The
mtDNA control region (CR) contains highly condensed variation and is therefore routinely
typed. Some samples exhibit an identical haplotype in this restricted range. Thus,
they convey only weak evidence in forensic queries and limited phylogenetic information.
However, a CR match does not imply that also the mtDNA coding regions are identical
or samples belong to the same phylogenetic lineage. This is especially the case for
the most frequent West Eurasian CR haplotype 263G 315.1C 16519C, which is observed
in various clades within haplogroup H and occurs at a frequency of 3–4% in many European
populations.
In this study, we investigated the power of massively parallel complete mtGenome sequencing
in 29 Italian samples displaying the most common West Eurasian CR haplotype – and
found an unexpected high diversity. Twenty-eight different haplotypes falling into
19 described sub-clades of haplogroup H were revealed in the samples with identical
CR sequences. This study demonstrates the benefit of complete mtGenome sequencing
for forensic applications to enforce maximum discrimination, more comprehensive heteroplasmy
detection, as well as highest phylogenetic resolution.
Abbreviations:
codR (coding region of the mtDNA), CR (control region of the mtDNA), EDNAP (European DNA Profiling Group), EMPOP (EDNAP mtDNA population database), MPS (massively parallel sequencing), MRCA (most recent common ancestor), mtDNA (mitochondrial DNA), np(s) (nucleotide position(s))Keywords
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Article info
Publication history
Published online: September 25, 2014
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© 2014 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
