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DNA extraction and analysis of skeletal remains
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Regional Criminal Investigation Department, Stockholm County Police, Stockholm, Sweden.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
(English)Manuscript (preprint) (Other academic)
Abstract [en]

Skeletal remains are often exposed to diverse conditions that affect the biological material in different ways. As a consequence, DNA in aged skeletal remains is often present in minute amounts, highly degraded and contains inhibitors that can affect the amplification reaction. These issues together with the high risk of contamination with exogenous DNA make molecular analysis of old remains a challenging task. Efficient methods for the extraction of DNA that maximise the yield and simultaneously remove inhibitors as well as contaminants would therefore be desirable, both for forensic investigations and for the study of ancient DNA analysis.

This study describes the evaluation of three protocols for extraction of DNA from aged skeletal remains. Whole and pulverised samples from a skull and ulna that had been buried for approximately 70 years were treated with bleach and different concentrations of EDTA and proteinase K. The DNA was thereafter extracted using a salting out procedure based on the Wizard® Genomic Purification system. The efficiency of the three protocols was estimated by mtDNA quantification, which revealed that the extracts contained between 0 and 14 110 copies/100mg bone. In general, the ulna bone resulted in higher yields of mtDNA compared to the skull bone. The most efficient extraction protocol was the one involving the highest concentration of EDTA. Soaking the bone samples in commercial bleach prior to extraction was found to be a useful method of eliminating contaminants while retaining sufficient DNA for analysis. Moreover, a maternal relationship was investigated for the remains analysed in this study.


Keyword [en]
mtDNA, DNA extraction, skeletal remains, decontamination
URN: urn:nbn:se:uu:diva-132069OAI: oai:DiVA.org:uu-132069DiVA: diva2:356813
Available from: 2010-10-14 Created: 2010-10-13 Last updated: 2011-01-13
In thesis
1. Sensitive Identification Tools in Forensic DNA Analysis
Open this publication in new window or tab >>Sensitive Identification Tools in Forensic DNA Analysis
2010 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

DNA as forensic evidence is valuable in criminal investigations. Implementation of new, sensitive and fast technologies is an important part of forensic genetic research. This thesis aims to evaluate new sensitive methods to apply in forensic DNA analysis including analysis of old skeletal remains.

In Paper I and II, two novel systems for analysis of STRs, based on the Pyrosequencing technology, are presented. In Paper I, Y chromosomal STRs are analysed. Markers on the male specific Y chromosome are especially useful in analysis of DNA mixtures. In Paper II, ten autosomal STRs are genotyped. The systems are based on sequencing of STR loci instead of size determination of STR fragments as in routine analysis. This provides a higher resolution since sequence variants within the repeats can be detected. Determination of alleles is based on a termination recognition base. This is the base in the template strand that is excluded from the dispensation order in the sequencing of the complementary strand and therefore terminates the reaction. Furthermore, skeletal remains are often difficult to analyse, due to damaging effects from the surrounding environment on the DNA and the high risk of exogenous contamination. Analysis of mitochondrial DNA is useful on degraded samples and in Paper III, mtDNA analysis of 700 years old skeletal remains is performed to investigate a maternal relationship. The quantity and quality of DNA are essential in forensic genetics. In Paper IV the efficiency of DNA isolation is investigated. Soaking skeletal remains in bleach is efficient for decontamination but result in a lower DNA yield, especially on pulverised skull samples.

In conclusion, this thesis presents novel sequencing systems for accurate and fast analysis of STR loci that can be useful in evaluation of new loci and database assembly as well as the utility of mtDNA in forensic genetics.


Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2010. 49 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 606
forensic genetics, STRs, Y-chromosome, Pyrosequencing, mitochondrial DNA, skeletal remains, DNA extraction
National Category
Medical and Health Sciences
Research subject
Medical Genetics
urn:nbn:se:uu:diva-131904 (URN)978-91-554-7915-2 (ISBN)
Public defence
2010-11-26, Rudbecksalen, Rudbeck Laboratory, Dag Hammarskjölds väg 20, Uppsala, 09:15 (English)
Available from: 2010-11-04 Created: 2010-10-10 Last updated: 2011-01-13Bibliographically approved

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