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Homogeneity in mitochondrial DNA control region sequences in Swedish subpopulations
Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Health Sciences.
Armed Forces DNA Identificat Lab, Rockville, MD USA .
Norwegian University Science and Technology.
Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Health Sciences.
2010 (English)In: International journal of legal medicine (Print), ISSN 0937-9827, E-ISSN 1427-1596, Vol. 124, no 2, 91-98 p.Article in journal (Refereed) Published
Abstract [en]

In order to promote mitochondrial DNA (mtDNA) testing in Sweden we have typed 296 Swedish males, which will serve as a Swedish mtDNA frequency database. The tested males were taken from seven geographically different regions representing the contemporary Swedish population. The complete mtDNA control region was typed and the Swedish population was shown to have high haplotype diversity with a random match probability of 0.5%. Almost 47% of the tested samples belonged to haplogroup H and further haplogroup comparison with worldwide populations clustered the Swedish mtDNA data together with other European populations. AMOVA analysis of the seven Swedish subregions displayed no significant maternal substructure in Sweden (F (ST) = 0.002). Our conclusion from this study is that the typed Swedish individuals serve as good representatives for a Swedish forensic mtDNA database. Some caution should, however, be taken for individuals from the northernmost part of Sweden (provinces of Norrbotten and Lapland) due to specific demographic conditions. Furthermore, our analysis of a small sample set of a Swedish Saami population confirmed earlier findings that the Swedish Saami population is an outlier among European populations.

Place, publisher, year, edition, pages
2010. Vol. 124, no 2, 91-98 p.
Keyword [en]
Mitochondrial DNA, Sweden, Saami, Control region, Demography
National Category
Engineering and Technology
URN: urn:nbn:se:liu:diva-54153DOI: 10.1007/s00414-009-0354-7ISI: 000274521800001OAI: diva2:300397
Available from: 2010-02-26 Created: 2010-02-26 Last updated: 2010-04-08
In thesis
1. Populations and Statistics in Forensic Genetics
Open this publication in new window or tab >>Populations and Statistics in Forensic Genetics
2010 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

DNA has become a powerful forensic tool for solving cases such as linking a suspect to a crime scene, resolving biological relationship issues and identifying disaster victims. Traditionally, DNA investigations mainly involve two steps; the establishment of DNA profiles from biological samples and the interpreta-tion of the evidential weight given by theses DNA profiles. This thesis deals with the latter, with focus on models for assessing the weight of evidence and the study of parameters affecting these probability figures.

In order to calculate the correct representative weight of DNA evidence, prior knowledge about the DNA markers for a relevant population sample is required. Important properties that should be studied are, for example, how frequently certain DNA-variants (i.e. alleles) occur in the population, the differences in such frequencies between subpopulations, expected inheritance patterns of the DNA markers within a family and the forensic efficiency of the DNA markers in casework.

In this thesis we aimed to study important population genetic parameters that influence the weight of evidence given by a DNA-analysis, as well as models for proper consideration of such parameters when calculating the weight of evi-dence in relationship testing.

We have established a Swedish frequency database for mitochondrial DNA haplotypes and a haplotype frequency database for markers located on the X-chromosome. Furthermore, mtDNA haplotype frequencies were used to study the genetic variation within Sweden, and between Swedish and other European populations. No genetic substructure was found in Sweden, but strong similari-ties with other western European populations were observed.

Genetic properties such as linkage and linkage disequilibrium could be im-portant when using X-chromosomal markers in relationship testing. This was true for the set of markers that we studied. In order to account for this, we pro-posed a model for how to take linkage and linkage disequilibrium into account when calculating the weight of evidence provided by X-chromosomal analysis.

Finally, we investigated the risk of erroneous decisions when using DNA in-vestigations for family reunification. We showed that the risk is increased due to uncertainties regarding population allele frequencies, consanguinity and compet-ing close relationship between the tested individuals. Additional information and the use of a refined model for the alternative hypotheses reduced the risk of making erroneous decisions.

In summary, as a result of the work on this thesis, we can use mitochondrial DNA and X-chromosome markers in order to resolve complex relationship in-vestigations. Moreover, the reliability of likelihood estimates has been increased by the development of models and the study of relevant parameters affecting probability calculations.

Place, publisher, year, edition, pages
Linköping: Linköping University Electronic Press, 2010. 55 p.
Linköping University Medical Dissertations, ISSN 0345-0082 ; 1175
National Category
Medical and Health Sciences
urn:nbn:se:liu:diva-54742 (URN)978-91-7393-420-6 (ISBN)
Public defence
2010-05-07, Elsa Brändström-salen, Campus US, Linköpings universitet, Linköping, 09:00 (English)
Available from: 2010-04-08 Created: 2010-04-08 Last updated: 2010-04-08Bibliographically approved

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Holmlund, Gunilla
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Department of Clinical and Experimental MedicineFaculty of Health Sciences
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