ArticleAmerican journal of human genetics2000
A sensitive denaturing gradient-Gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Maternal lineage diversity based on mitochondrial DNA in a population sample from Mexico City.Molecular biology reports · 2025Article
- A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.Nature communications · 2022Article
- Exploring statistical weight estimates for mitochondrial DNA matches involving heteroplasmy.International journal of legal medicine · 2022Article
- mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences.Life (Basel, Switzerland) · 2021Review
- Article
- TaqMan-MGB probe quantitative PCR assays to genotype and quantify three mtDNA mutations of Leber hereditary optic neuropathy.Scientific reports · 2020Article
- Review
- Mitigating the effects of reference sequence bias in single-multiplex massively parallel sequencing of the mitochondrial DNA control region.Forensic science international. Genetics · 2019Article
- Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing.Forensic science international. Genetics · 2015Review
- Aspects of ancient mitochondrial DNA analysis in different populations for understanding human evolution.Balkan journal of medical genetics : BJMG · 2014Review
- Recurrent tissue-specific mtDNA mutations are common in humans.PLoS genetics · 2013Article
- Point mutations associated with Leber hereditary optic neuropathy in a Latvian population.Molecular vision · 2013Article
- Second generation sequencing allows for mtDNA mixture deconvolution and high resolution detection of heteroplasmy.Croatian medical journal · 2011Article
- Factors affecting the detection and quantification of mitochondrial point heteroplasmy using Sanger sequencing and SNaPshot minisequencing.International journal of legal medicine · 2011Article
- Evaluating sequence-derived mtDNA length heteroplasmy by amplicon size analysis.Forensic science international. Genetics · 2011Article
- Evolutionary toxicology: contaminant-induced genetic mutations in mosquitofish from Sumgayit, Azerbaijan.Ecotoxicology (London, England) · 2011Article
- Article
- Article
- Biomarker Validation for Aging: Lessons from mtDNA Heteroplasmy Analyses in Early Cancer Detection.Biomarker insights · 2009Article
- Investigation of heteroplasmy in the human mitochondrial DNA control region: a synthesis of observations from more than 5000 global population samples.Journal of molecular evolution · 2009Article
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6 authors.
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Abstract
A population study of heteroplasmy in the hypervariable region 1 (HV1) portion of the human mtDNA control region was performed. Blood samples from 253 randomly chosen individuals were examined using a sensitive denaturing gradient-gel electrophoresis (DGGE) system. This method is capable of detecting heteroplasmic proportions as low as 1% and virtually all heteroplasmy where the minor component is > or = 5%. Heteroplasmy was observed in 35 individuals (13.8%; 95% confidence interval [CI] 9.6-18.0). Of these individuals, 33 were heteroplasmic at one nucleotide position, whereas 2 were heteroplasmic at two different positions (a condition known as "triplasmy"). Although heteroplasmy occurred at a total of 16 different positions throughout HV1, it was most frequently observed at positions 16093 (n=13) and 16129 (n=6). In addition, the majority of heteroplasmic variants occurred at low proportions and could not be detected by direct sequencing of PCR products. This study indicates that low-level heteroplasmy in HV1 is relatively common and that it occurs at a broad spectrum of sites. Our results corroborate those of other recent reports indicating that heteroplasmy in the control region is more common than was previously believed-a finding that is of potential importance to evolutionary studies and forensic applications that are based on mtDNA variation.
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