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Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing

NCJ Number
Forensic Science International Genetics Volume: 18 Dated: 2015 Pages: 131-139
Date Published
9 pages

This review provides an overview of considerations related to the use of massively parallel sequencing MPS technologies to detect mtDNA heteroplasmy, and it examines published reports on point heteroplasmy to characterize features of the data that will assist in the evaluation of future mtGenome data developed by any typing method. 



Long an important and useful tool in forensic genetic investigations, mitochondrial DNA (mtDNA) typing continues to mature. Research in the last few years has demonstrated both that data from the entire molecule will have practical benefits in forensic DNA casework, and that massively parallel sequencing (MPS) methods will make full mitochondrial genome (mtGenome) sequencing of forensic specimens feasible and cost-effective. A spate of recent studies has employed these new technologies to assess intra-individual mtDNA variation; however, in several instances, contamination and other sources of mixed mtDNA data have been erroneously identified as heteroplasmy. Well vetted mtGenome datasets based on both Sanger and MPS sequences have found authentic point heteroplasmy in approximately 25  percent of individuals when minor component detection thresholds are in the range of 10–20 percent, along with positional distribution patterns in the coding region that differ from patterns of point heteroplasmy in the well-studied control region. A few recent studies that examined very low-level heteroplasmy are concordant with these observations when the data are examined at a common level of resolution. (publisher abstract modified)

Date Published: January 1, 2015