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Mitochondrial DNA analysis of Swedish population samples
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. (Allen)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
2013 (English)In: International journal of legal medicine (Print), ISSN 0937-9827, E-ISSN 1437-1596, Vol. 127, no 6, 1097-1099 p.Article in journal (Refereed) Published
Abstract [en]

As a contribution to the geographic coverage of EMPOP, currently the best available forensic mitochondrial DNA (mtDNA) database, a total of 299 Swedish individuals were analysed by sequencing of the first and second hypervariable regions of the mtDNA genome. In this sample set, a total of 179 different haplotypes were detected. The genetic diversity was estimated to be 0.9895 (±0.0023), and the random match probability was 1.39 %. The most abundant haplogroups were HV (including its subhaplogroups H and V) with a frequency of 46.5 %, followed by haplogroup U (including its subhaplogroup K) at 27.8 %, haplogroup T at 10.0 % and haplogroup J at 7.0 %, a distribution that is consistent with previous observations in other European populations.

Place, publisher, year, edition, pages
2013. Vol. 127, no 6, 1097-1099 p.
Keyword [en]
Forensic DNA database, Haplogroup, Haplotype, mtDNA, Northern Europe, Sweden
National Category
Biological Sciences Genetics
Identifiers
URN: urn:nbn:se:uu:diva-209955DOI: 10.1007/s00414-013-0908-6ISI: 000326190200006PubMedID: 24077990OAI: oai:DiVA.org:uu-209955DiVA: diva2:660075
Available from: 2013-10-28 Created: 2013-10-28 Last updated: 2017-12-06
In thesis
1. Application of Mitochondrial DNA Analysis in Contemporary and Historical Samples
Open this publication in new window or tab >>Application of Mitochondrial DNA Analysis in Contemporary and Historical Samples
2013 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The mitochondrion is a tiny organelle that is the power supplier of the cell and vital to the functioning of the body organs. Additionally it contains a small circular genome of about 16 kb, present in many copies which makes the mitochondrial DNA more viable than nuclear DNA. Mitochondrial DNA is also maternally inherited and thus provides a direct link to maternal relatives. These two properties are of particular use for forensic samples, which only contain limited or degraded amounts of DNA, and for historical samples (ancient DNA). This thesis presents work on the mitochondrial DNA in the hypervariable regions (HV) I and II, in both contemporary and historical samples. Forensic genetics makes use of mitochondrial DNA analysis in court as circumstantial evidence, and population databases are used for the calculation of evidence value. Population samples (299) across Sweden have been analysed in order to enrich the EDNAP mtDNA database (EMPOP) (paper I). The application of mitochondrial DNA analysis allowed for analysis of historical skeletal remains: Copernicus, 1473-1543 (paper II), Karin Göring, 1888-1931 (paper III) and Medieval bones, 880-1000 AD, from a mass grave found in Sigtuna, Sweden (paper IV). The thesis also includes analyses of bones and teeth from the shipwrecked crew of the Vasa warship, 1628, samples from the Vasa museum, Stockholm, Sweden (paper V). Overall, the varying age of the samples and the different conservation environments (soil and water) accounted for variations in quality, but still allowed for successful DNA analysis.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2013. 62 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 950
Keyword
Forensic genetics, Mitochondrial DNA, HVI/HVII, Population database, Haplotype, Haplogroup, Ancient DNA, Historical DNA samples, skeletal remains, Vasa museum, Medieval samples, Copernicus, Göring
National Category
Natural Sciences
Research subject
Genetics
Identifiers
urn:nbn:se:uu:diva-209970 (URN)978-91-554-8799-7 (ISBN)
Public defence
2013-12-14, Auditorium Minus, Gustavianum, Akademigatan 3, 75310 Uppsala, 13:00 (English)
Opponent
Supervisors
Available from: 2013-11-22 Created: 2013-10-29 Last updated: 2014-01-23

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Lembring, MariaAllen, Marie

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