Helena, the hidden beauty: Resolving the most common West Eurasian mtDNA control region haplotype by massively parallel sequencing an Italian population sample. (March 2015)

• Record Type: Journal Article
• Authors: Bodner, Martin; Iuvaro, Alessandra; Strobl, Christina; Nagl, Simone; Huber, Gabriela; Pelotti, Susi; Pettener, Davide; Luiselli, Donata; Parson, Walther
• Is Part Of: Forensic science international. Volume 15(2015:Mar.)
• Page Start: 21
• Page End: 26
• Publication Date: 2015-03
• Subjects: 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); Massively parallel sequencing -- mtDNA -- Forensics -- Most common haplotype -- Power of discrimination -- mtDNA haplogroup H; Forensic genetics -- Periodicals; Génétique légale -- Périodiques; Forensic genetics; Electronic journals; Periodicals; 614.1
• DOI: 10.1016/j.fsigen.2014.09.012
• Languages: English
• ISSNs: 1872-4973

Abstract

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.