ArticleInternational journal of legal medicine2004
Monitoring the inheritance of heteroplasmy by computer-assisted detection of mixed basecalls in the entire human mitochondrial DNA control region.
Article in International journal of legal medicine, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 56 citations in OpenAlex.
- Article
- Historical records under the genetic evidence: "Chiriguano" tribe genesis as a test case.Molecular biology reports · 2018Article
- Multiplexed Microsphere Suspension-Array Assay for Urine Mitochondrial DNA Typing by C-Stretch Length in Hypervariable Regions.Journal of clinical medicine research · 2018Article
- Analysis of admixture and genetic structure of two Native American groups of Southern Argentinean Patagonia.Molecular biology reports · 2014Article
- Site heteroplasmy in the mitochondrial cytochrome b gene of the sterlet sturgeon Acipenser ruthenus.Genetics and molecular biology · 2012Article
- Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees.International journal of legal medicine · 2011Review
- Inspecting close maternal relatedness: Towards better mtDNA population samples in forensic databases.Forensic science international. Genetics · 2011Article
- Somatic mutations throughout the entire mitochondrial genome are associated with elevated PSA levels in prostate cancer patients.American journal of human genetics · 2010Article
- Modelling mitochondrial site polymorphisms to infer the number of segregating units and mutation rate.Biology letters · 2009Article
- Detection of the A189G mtDNA heteroplasmic mutation in relation to age in modern and ancient bones.International journal of legal medicine · 2009Article
- Frequency and pattern of heteroplasmy in the control region of human mitochondrial DNA.Journal of molecular evolution · 2008Article
- Analysis of mitochondrial length heteroplasmy in monozygous and non-monozygous siblings.International journal of legal medicine · 2008Article
- Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing.International journal of legal medicine · 2008Article
- Consistent treatment of length variants in the human mtDNA control region: a reappraisal.International journal of legal medicine · 2008Article
- Unravelling the mystery of Nanga Parbat.International journal of legal medicine · 2007Article
- The Genographic Project public participation mitochondrial DNA database.PLoS genetics · 2007Article
- Liquid chromatography-electrospray ionization mass spectrometry for simultaneous detection of mtDNA length and nucleotide polymorphisms.International journal of legal medicine · 2007Article
- Detection of hepatitis B virus (HBV) genotype E carried--even in the presence of high titers of anti-HBs antibodies--by an Argentinean patient of African descent who had received vaccination against HBV.Journal of clinical microbiology · 2006Article
- Forensic identification of urine samples: a comparison between nuclear and mitochondrial DNA markers.International journal of legal medicine · 2006Article
- Some guidelines for the analysis of genomic DNA by PCR-LC-ESI-MS.Journal of the American Society for Mass Spectrometry · 2006Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The entire mitochondrial DNA control region (approximately 1122 bp) of 270 blood samples (135 mother-child pairs) was determined by direct sequencing. Overall, 135 'generational events' were screened and within these, 20 mother-offspring pairs demonstrated more than 1 mtDNA haplotype. In 13 families, differences in the haplotypes between mother and offspring were detected in the form of heteroplasmic substitutions. Intergenerational comparisons led to the identification of three heteroplasmic point mutations and eight heteroplasmic length mutations affecting the children only. In two cases, a point heteroplasmy of the maternal sequence was resolved to homoplasmy in the corresponding sequence of the child. These discordant maternal-offspring haplotypes suggest that the shift in the mtDNA haplotype was the result of segregation of a limited maternal subpopulation of mtDNA. As technical implement, quality values assigned to basecalls were tested for their application in automated point heteroplasmy detection.
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