ArticleInternational journal of legal medicine2009
Detection of the A189G mtDNA heteroplasmic mutation in relation to age in modern and ancient bones.
Article in International journal of legal medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Estimation of age in forensic anthropology: historical perspective and recent methodological advances.Forensic sciences research · 2019Review
- DNA recovery and analysis from skeletal material in modern forensic contexts.Forensic sciences research · 2019Review
- mtDNA Mutations and Their Role in Aging, Diseases and Forensic Sciences.Aging and disease · 2013Review
- Factors affecting the detection and quantification of mitochondrial point heteroplasmy using Sanger sequencing and SNaPshot minisequencing.International journal of legal medicine · 2011Article
- Detection of age-related duplications in mtDNA from human muscles and bones.International journal of legal medicine · 2011Article
- Evaluating length heteroplasmy in the human mitochondrial DNA control region.International journal of legal medicine · 2010Article
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Authors and funding
8 authors.
Funding
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Abstract
The aim of this study was to demonstrate the presence of the A189G age-related point mutation on DNA extracted from bone. For this, a peptide nucleic acid (PNA)/DNA sequencing method which can determine an age threshold for the appearance of the mutation was used. Initially, work was done in muscle tissue in order to evaluate the sensitivity of the technique and afterwards in bone samples from the same individuals. This method was also applied to ancient bones from six well-preserved skeletal remains. The mutation was invariably found in muscle, and at a rate of up to 20% in individuals over 60 years old. In modern bones, the mutation was detected in individuals aged 38 years old or more, at a rate of up to 1%, but its occurrence was not systematic (only four out of ten of the individuals over 50 years old carried the heteroplasmy). For ancient bones, the mutation was also found in the oldest individuals according to osteologic markers. The study of this type of age-related mutation and a more complete understanding of its manifestation has potentially useful applications. Combined with traditional age markers, it could improve identification accuracy in forensic cases or in anthropological studies of ancient populations.
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