Evaluation of mitogenome sequence concordance, heteroplasmy detection, and haplogrouping in a worldwide lineage study using the Precision ID mtDNA Whole Genome Panel
| Autor: | Leonor Gusmão, Bruce Budowle, Carlos Vullo, Jennifer Churchill Cihlar, Reinhard Würzner, Seah Lay Hong, Claudia Barletta-Carrillo, Wiliam Usaquén, Bettina Zimmermann, Rosane Silva, Chantal Roth, Martin Bodner, Harald Niederstätter, Rodrigo S. Moura-Neto, L. Souto, Gabriela Huber, Robert Lagacé, Dayse A. Silva, Christina Strobl, Balázs Egyed, Walther Parson, Dean Herman Tineo, Andrea Casas-Vargas, Catarina Xavier, Katja Anslinger, Farida Alshamali, Lisa Schnaller, Sharon Wootton, Renata Jankova-Ajanovska, Nicole Huber |
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| Rok vydání: | 2019 |
| Předmět: |
Forensic Genetics
0301 basic medicine Mitochondrial DNA Computational biology Biology DNA Mitochondrial Genome DNA sequencing Haplogroup Pathology and Forensic Medicine 03 medical and health sciences symbols.namesake 0302 clinical medicine Genetics Humans 030216 legal & forensic medicine Phylogeny Sanger sequencing Massive parallel sequencing Phylogenetic tree High-Throughput Nucleotide Sequencing Sequence Analysis DNA Heteroplasmy 030104 developmental biology Haplotypes Genome Mitochondrial symbols Multiplex Polymerase Chain Reaction |
| Zdroj: | Forensic Science International: Genetics. 42:244-251 |
| ISSN: | 1872-4973 |
| DOI: | 10.1016/j.fsigen.2019.07.013 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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