ArticleForensic science international. Genetics2011
Evaluating sequence-derived mtDNA length heteroplasmy by amplicon size analysis.
Article in Forensic science international. Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 32 citations in OpenAlex.
- Helena's Many Daughters: More Mitogenome Diversity behind the Most Common West Eurasian mtDNA Control Region Haplotype in an Extended Italian Population Sample.International journal of molecular sciences · 2022Article
- Massively parallel sequencing of human skeletal remains in Vietnam using the precision ID mtDNA control region panel on the Ion S5™ system.International journal of legal medicine · 2021Article
- Mitochondrial DNA control region diversity in a population from Parana state-increasing the Brazilian forensic database.International journal of legal medicine · 2019Article
- MPS analysis of the mtDNA hypervariable regions on the MiSeq with improved enrichment.International journal of legal medicine · 2017Article
- Manganese-superoxide dismutase (Mn-SOD) overexpression is a common event in colorectal cancers with mitochondrial microsatellite instability.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Length heteroplasmy of the polyC-polyT-polyC stretch in the dog mtDNA control region.International journal of legal medicine · 2015Article
- Human settlement history between Sunda and Sahul: a focus on East Timor (Timor-Leste) and the Pleistocenic mtDNA diversity.BMC genomics · 2015Article
- Mitochondrial control region alterations and breast cancer risk: a study in South Indian population.PloS one · 2014Article
- Mass spectrometric base composition profiling: Implications for forensic mtDNA databasing.Forensic science international. Genetics · 2013Article
- Evaluation of next generation mtGenome sequencing using the Ion Torrent Personal Genome Machine (PGM).Forensic science international. Genetics · 2013Article
- Article
- Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians.PloS one · 2011Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Length heteroplasmy (LH) in mitochondrial (mt)DNA is usually observed in homopolymeric tracts and manifest as mixture of various length variants. The generally used difference-coded annotation to report mtDNA haplotypes does not express the degree of LH variation present in a sample, even more so, it is sometimes difficult to establish which length variants are present and clearly distinguishable from background noise. It has therefore become routine practice for some researchers to call the dominant type, the "major molecule", which represents the LH variant that is most abundant in a DNA extract. In the majority of cases a clear single dominant variant can be identified. However, in some samples this interpretation is difficult, i.e. when (almost) equally quantitative LH variants are present or when multiple sequencing primers result in the presentation of different dominant types. To better understand those cases we designed amplicon sizing assays for the five most relevant LH regions in the mtDNA control region (around ntps 16,189, 310, 460, 573, and the AC-repeat between 514 and 524) to determine the ratio of the LH variants by fluorescence based amplicon sizing assays. For difficult LH constellations derived by Sanger sequencing (with Big Dye terminators) these assays mostly gave clear and unambiguous results. In the vast majority of cases we found agreement between the results of the sequence and amplicon analyses and propose this alternative method in difficult cases.
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