Title
Evaluation of mitogenome sequence concordance, heteroplasmy detection, and haplogrouping in a worldwide lineage study using the Precision ID mtDNA Whole Genome Panel
Date Issued
01 September 2019
Access level
metadata only access
Resource Type
journal article
Author(s)
Strobl C.
Churchill Cihlar J.
Lagacé R.
Wootton S.
Roth C.
Huber N.
Schnaller L.
Zimmermann B.
Huber G.
Lay Hong S.
Moura-Neto R.
Silva R.
Alshamali F.
Souto L.
Anslinger K.
Egyed B.
Jankova-Ajanovska R.
Casas-Vargas A.
Usaquén W.
Silva D.
Tineo D.H.
Vullo C.
Würzner R.
Xavier C.
Gusmão L.
Niederstätter H.
Bodner M.
Budowle B.
Parson W.
Publisher(s)
Elsevier
Abstract
The emergence of Massively Parallel Sequencing technologies enabled the analysis of full mitochondrial (mt)DNA sequences from forensically relevant samples that have, so far, only been typed in the control region or its hypervariable segments. In this study, we evaluated the performance of a commercially available multiplex-PCR-based assay, the Precision ID mtDNA Whole Genome Panel (Thermo Fisher Scientific), for the amplification and sequencing of the entire mitochondrial genome (mitogenome) from even degraded forensic specimens. For this purpose, more than 500 samples from 24 different populations were selected to cover the vast majority of established superhaplogroups. These are known to harbor different signature sequence motifs corresponding to their phylogenetic background that could have an effect on primer binding and, thus, could limit a broad application of this molecular genetic tool. The selected samples derived from various forensically relevant tissue sources and were DNA extracted using different methods. We evaluated sequence concordance and heteroplasmy detection and compared the findings to conventional Sanger sequencing as well as an orthogonal MPS platform. We discuss advantages and limitations of this approach with respect to forensic genetic workflow and analytical requirements.
Start page
244
End page
251
Volume
42
Language
English
OCDE Knowledge area
Genética humana
Subjects
Scopus EID
2-s2.0-85071786543
PubMed ID
Source
Forensic Science International: Genetics
ISSN of the container
18724973
Sources of information:
Directorio de Producción Científica
Scopus