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  • 1.
    Bus, Magdalena M.
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Lembring, Maria
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Kjellstrom, Anna
    Stockholm Univ, Dept Archaeol & Class Studies, Osteoarchaeol Res Lab, S-10691 Stockholm, Sweden.
    Strobl, Christina
    Med Univ Innsbruck, Inst Legal Med, A-6020 Innsbruck, Austria.
    Zimmermann, Bettina
    Med Univ Innsbruck, Inst Legal Med, A-6020 Innsbruck, Austria.
    Parson, Walther
    Med Univ Innsbruck, Inst Legal Med, A-6020 Innsbruck, Austria;Penn State Univ, Forens Sci Program, University Pk, PA 16802 USA.
    Allen, Marie
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Mitochondrial DNA analysis of a Viking age mass grave in Sweden2019In: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 42, p. 268-274Article in journal (Refereed)
    Abstract [en]

    In 1998, a Viking Age mass grave was discovered and excavated at St. Laurence's churchyard in Sigtuna, Sweden. The excavated bones underwent osteoarchaeological analysis and were assigned to at least 19 individuals. Eleven skeletons showed sharp force trauma from bladed weapons. Mass graves are an unusual finding from this time period, making the burial context extraordinary. To investigate a possible maternal kinship among the individuals, bones and teeth from the skeletal remains were selected for mitochondrial DNA (mtDNA) analysis. Sanger sequencing of short stretches of the hypervariable segments I and II (HVS-I and HVS-II) was performed. A subset of the samples was also analysed by massively parallel sequencing analysis (MPS) of the entire mtDNA genome using the Precision ID mtDNA Whole Genome Panel. A total of 15 unique and three shared mtDNA profiles were obtained. Based on a combination of genetic and archaeological data, we conclude that a minimum of 20 individuals was buried in the mass grave. The majority of the individuals were not maternally related. However, two possible pairs of siblings or mother-child relationships were identified. All individuals were assigned to West Eurasian haplogroups, with a predominance of haplogroup H. Although the remains showed an advanced level of DNA degradation, the combined use of Sanger sequencing and MPS with the Precision ID mtDNA Whole Genome Panel revealed at least partial mtDNA data for all samples.

  • 2. Kjellström, A.
    et al.
    Edlund, Hanna
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
    Lembring, Maria
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics.
    Ahlgren, Viktoria
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Allen, Marie
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics.
    An Analysis of the Alleged Skeletal Remains of Carin Göring2012In: PLOS ONE, E-ISSN 1932-6203, Vol. 7, no 12, p. e44366-Article in journal (Refereed)
    Abstract [en]

    In 1991, treasure hunters found skeletal remains in an area close to the destroyed country residence of former Nazi leader Hermann Göring in northeastern Berlin. The remains, which were believed to belong to Carin Göring, who was buried at the site, were examined to determine whether it was possible to make a positive identification. The anthropological analysis showed that the remains come from an adult woman. The DNA analysis of several bone elements showed female sex, and a reference sample from Carin's son revealed mtDNA sequences identical to the remains. The profile has one nucleotide difference from the Cambridge reference sequence (rCRS), the common variant 263G. A database search resulted in a frequency of this mtDNA sequence of about 10% out of more than 7,000 European haplotypes. The mtDNA sequence found in the ulna, the cranium and the reference sample is, thus, very common among Europeans. Therefore, nuclear DNA analysis was attempted. The remains as well as a sample from Carin's son were successfully analysed for the three nuclear markers TH01, D7S820 and D8S1179. The nuclear DNA analysis of the two samples revealed one shared allele for each of the three markers, supporting a mother and son relationship. This genetic information together with anthropological and historical files provides an additional piece of circumstantial evidence in our efforts to identify the remains of Carin Göring.

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  • 3.
    Lembring, Maria
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Köpenhamns universitet, University of Copenhagen.
    Application of Mitochondrial DNA Analysis in Contemporary and Historical Samples2013Doctoral 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.

    List of papers
    1. Mitochondrial DNA analysis of Swedish population samples
    Open this publication in new window or tab >>Mitochondrial DNA analysis of Swedish population samples
    2013 (English)In: International journal of legal medicine, ISSN 0937-9827, E-ISSN 1437-1596, Vol. 127, no 6, p. 1097-1099Article 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.

    Keywords
    Forensic DNA database, Haplogroup, Haplotype, mtDNA, Northern Europe, Sweden
    National Category
    Biological Sciences Genetics
    Identifiers
    urn:nbn:se:uu:diva-209955 (URN)10.1007/s00414-013-0908-6 (DOI)000326190200006 ()24077990 (PubMedID)
    Available from: 2013-10-28 Created: 2013-10-28 Last updated: 2024-01-17
    2. Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus
    Open this publication in new window or tab >>Genetic identification of putative remains of the famous astronomer Nicolaus Copernicus
    Show others...
    2009 (English)In: Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, E-ISSN 1091-6490, Vol. 106, no 30, p. 12279-12282Article in journal (Refereed) Published
    Abstract [en]

    We report the results of mitochondrial and nuclear DNA analyses of skeletal remains exhumed in 2005 at Frombork Cathedral in Poland, that are thought to be those of Nicolaus Copernicus (1473-1543). The analyzed bone remains were found close to the altar Nicolaus Copernicus was responsible for during his tenure as priest. The mitochondrial DNA (mtDNA) profiles from 3 upper molars and the femurs were identical, suggesting that the remains originate from the same individual. Identical mtDNA profiles were also determined in 2 hairs discovered in a calendar now exhibited at Museum Gustavianum in Uppsala, Sweden. This calendar was the property of Nicolaus Copernicus for much of his life. These findings, together with anthropological data, support the identification of the human remains found in Frombork Cathedral as those of Nicolaus Copernicus. Up-to-now the particular mtDNA haplotype has been observed only 3 times in Germany and once in Denmark. Moreover, Y-chromosomal and autosomal short tandem repeat markers were analyzed in one of the tooth samples, that was much better preserved than other parts of the skeleton. Molecular sex determination revealed that the skeleton is from a male individual, and this result is consistent with morphological investigations. The minimal Y-chromosomal haplotype determined in the putative remains of Nicolaus Copernicus has been observed previously in many countries, including Austria, Germany, Poland, and the Czech Republic. Finally, an analysis of the SNP located in the HERC2 gene revealed the C/C genotype that is predominant in blue-eyed humans, suggesting that Copernicus may have had a light iris color.

    Keywords
    eye-color marker, hairs, human remains, identification, mitochondrial and nuclear DNA
    National Category
    Medical and Health Sciences
    Identifiers
    urn:nbn:se:uu:diva-107559 (URN)10.1073/pnas.0901848106 (DOI)000268440200016 ()19584252 (PubMedID)
    Available from: 2009-08-17 Created: 2009-08-17 Last updated: 2017-12-13
    3. An Analysis of the Alleged Skeletal Remains of Carin Göring
    Open this publication in new window or tab >>An Analysis of the Alleged Skeletal Remains of Carin Göring
    Show others...
    2012 (English)In: PLOS ONE, E-ISSN 1932-6203, Vol. 7, no 12, p. e44366-Article in journal (Refereed) Published
    Abstract [en]

    In 1991, treasure hunters found skeletal remains in an area close to the destroyed country residence of former Nazi leader Hermann Göring in northeastern Berlin. The remains, which were believed to belong to Carin Göring, who was buried at the site, were examined to determine whether it was possible to make a positive identification. The anthropological analysis showed that the remains come from an adult woman. The DNA analysis of several bone elements showed female sex, and a reference sample from Carin's son revealed mtDNA sequences identical to the remains. The profile has one nucleotide difference from the Cambridge reference sequence (rCRS), the common variant 263G. A database search resulted in a frequency of this mtDNA sequence of about 10% out of more than 7,000 European haplotypes. The mtDNA sequence found in the ulna, the cranium and the reference sample is, thus, very common among Europeans. Therefore, nuclear DNA analysis was attempted. The remains as well as a sample from Carin's son were successfully analysed for the three nuclear markers TH01, D7S820 and D8S1179. The nuclear DNA analysis of the two samples revealed one shared allele for each of the three markers, supporting a mother and son relationship. This genetic information together with anthropological and historical files provides an additional piece of circumstantial evidence in our efforts to identify the remains of Carin Göring.

    National Category
    Medical and Health Sciences
    Identifiers
    urn:nbn:se:uu:diva-192064 (URN)10.1371/journal.pone.0044366 (DOI)000312694300001 ()
    Available from: 2013-01-17 Created: 2013-01-15 Last updated: 2021-06-14Bibliographically approved
    4. Mitochondrial DNA analysis of a Swedish Medieval mass grave
    Open this publication in new window or tab >>Mitochondrial DNA analysis of a Swedish Medieval mass grave
    (English)Manuscript (preprint) (Other academic)
    National Category
    Natural Sciences
    Research subject
    Genetics
    Identifiers
    urn:nbn:se:uu:diva-209964 (URN)
    Available from: 2013-10-29 Created: 2013-10-29 Last updated: 2014-01-23Bibliographically approved
    5. Mitochondrial DNA analysis of the human remains found on the Vasa warship
    Open this publication in new window or tab >>Mitochondrial DNA analysis of the human remains found on the Vasa warship
    (English)Manuscript (preprint) (Other academic)
    National Category
    Natural Sciences
    Research subject
    Genetics
    Identifiers
    urn:nbn:se:uu:diva-209966 (URN)
    Available from: 2013-10-29 Created: 2013-10-29 Last updated: 2014-01-23Bibliographically approved
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  • 4.
    Lembring, Maria
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Bus, Magdalena
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Hocker, Fred
    Allen, Marie
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Mitochondrial DNA analysis of the human remains found on the Vasa warshipManuscript (preprint) (Other academic)
  • 5.
    Lembring, Maria
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Bus, Magdalena
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Kjellström, Anna
    Allen, Marie
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Mitochondrial DNA analysis of a Swedish Medieval mass graveManuscript (preprint) (Other academic)
  • 6.
    Lembring, Maria
    et al.
    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.
    van Oven, Mannis
    Montelius, Maria
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Allen, Marie
    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.
    Mitochondrial DNA analysis of Swedish population samples2013In: International journal of legal medicine, ISSN 0937-9827, E-ISSN 1437-1596, Vol. 127, no 6, p. 1097-1099Article in journal (Refereed)
    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.

1 - 6 of 6
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