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| 2. |
- Holmlund, Gunilla
(författare)
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Identifiering med DNA-teknik
- 2009
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Ingår i: Flygvapenmusei Årsbok 2009. - : Östergötlands flyghistoriska sällskap. ; , s. 52-61
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 3. |
- Holmlund, Gunilla, et al.
(författare)
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Y-chromosome STR haplotypes in Sweden
- 2006
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Ingår i: Forensic Science International. - : Elsevier. - 0379-0738 .- 1872-6283. ; 160:1, s. 66-79
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Tidskriftsartikel (refereegranskat)abstract
- A total of 708 men, with Swedish names, from different parts of Sweden have been typed for the Y-chromosome minimal haplotype STR markers DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 and DYS385. Of these, 403 men were of geographically undefined Swedish origin and the rest, 305, from seven defined geographical regions. PCR-products were detected by ABI377 using sequenced allelic ladders. An evaluation of the 708 chromosomes revealed 423 different haplotypes. Only 100 of the haplotypes were found more than once. The over all haplotype diversity was 0.994. The haplotype 14, 12, 28, 23, 10, 11, 13, 14-14 has the highest frequency of 5.79% and is significantly Swedish, when compared to other European populations.
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| 4. |
- Karlsson, AO, et al.
(författare)
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DNA-testing for immigration cases: the risk of erroneous conclusions
- 2007
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Ingår i: Forensic science international. - : Elsevier BV. - 1872-6283 .- 0379-0738. ; 172:2-3, s. 144-9
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Tidskriftsartikel (refereegranskat)abstract
- Making the correct decision based on results from DNA analyses and other information in family reunification cases can be complicated for a number of reasons. These include stratified populations, cultural differences in family constellations, families with different population origin, and complicated family relations giving complex pedigrees. The aim of this study was to analyze the risk of erroneous conclusions in immigration cases and to propose alternative procedures to current methods to reduce the risk of making such errors. A simulation model was used to study different issues. For simplicity, we focus on cases which can be formulated as questions about paternity. We present an overview of error rates (of falsely included men as the true father and of falsely excluded true fathers) for fairly standard computations, and we show how these are affected by different factors. For example, adding more DNA markers to a case will decrease the error rates, as will the inclusion of more children. We found that using inappropriate population frequency databases had just minor effects on the error rates, but the likelihood ratios varied from an underestimation of 100 times up to an overestimation of 100,000 times. To reduce the risk of falsely including a man related to the true father we propose a more refined prior including five hypotheses instead of the two normally used. Simulations showed that this method gave reduced error rates compared with standard computations, even when the prior does not exactly correspond to reality.
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| 5. |
- Karlsson, AO, et al.
(författare)
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Identification of mammal species using species-specific DNA pyrosequencing
- 2007
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Ingår i: Forensic Science International. - : Elsevier BV. - 0379-0738 .- 1872-6283. ; 173:1, s. 16-20
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Tidskriftsartikel (refereegranskat)abstract
- In forensic casework it is highly relevant to be able to deduce the species origin of an unknown biological sample. For such a purpose we have designed and developed an assay for species identification based on DNA sequencing of two short mitochondrial DNA amplicons. In short, partial 12S rRNA and partial 16S rRNA fragments (similar to 100 bp) are amplified by PCR followed by direct sequencing using pyrosequencing technique. Due to properties of the chosen targets, the same PCR conditions and primers were used irrespective of the true species of an unknown sample. A total of 28 different mammals present in the European fauna were sequenced both for the partial 12S rRNA and the partial 16S rRNA sequences for accuracy verification. Together the two sequences showed to have a high divergence factor, discriminating almost all mammals. Furthermore, the human reference nucleotide sequences were always at least nine nucleotides different compared to the other sequenced species both at the partial 12S rRNA and the partial 16S rRNA sequences.
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| 6. |
- Karlsson, Andreas O, et al.
(författare)
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Y-chromosome diversity in Sweden - A long-time perspective
- 2006
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Ingår i: European Journal of Human Genetics. - : Nature Publishing Group. - 1018-4813 .- 1476-5438. ; 14:8, s. 963-970
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Tidskriftsartikel (refereegranskat)abstract
- Sixteen Y-chromosomal binary markers and nine Y-chromosome short tandem repeats were analyzed in a total of 383 unrelated males from seven different Swedish regions, one Finnish region and a Swedish Saami population in order to address questions about the origin and genetic structure of the present day population in Sweden. Haplogroup l1a* was found to be the most common haplogroup in Sweden and accounted, together with haplogroups R1b3, R1a1 and N3, for over 80% of the male lineages. Within Sweden, a minor stratification was found in which the northern region Vasterbotten differed significantly (P less than 0.05) from the other Swedish regions. A flow of N3 chromosomes into Vasterbotten mainly from Saami and Finnish populations could be one explanation for this stratification. However, the demographic history of Vasterbotten involving a significant male absence during the 17th Century may also have had a large impact. Immigration of young men from elsewhere to Varmland at the same time, can be responsible for a similar deviation with I1a* haplotypes. Y chromosomes within haplogroup R1b3 were found to have the highest STR variation among all haplogroups and could thus be considered to be one of the earliest major male lineages present in Sweden. Regional haplotype variation, within R1b3, also showed a difference between two regions in the south of Sweden. This can also be traced from historical time and is visible in archaeological material Overall this Y chromosome study provides interesting information about the genetic patterns and demographic events in the Swedish population
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| 7. |
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| 8. |
- Lao, O., et al.
(författare)
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Correlation between Genetic and Geographic Structure in Europe
- 2008
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Ingår i: Current Biology. - : Elsevier BV. - 0960-9822 .- 1879-0445. ; 18:16, s. 1241-1248
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Tidskriftsartikel (refereegranskat)abstract
- Understanding the genetic structure of the European population is important, not only from a historical perspective, but also for the appropriate design and interpretation of genetic epidemiological studies. Previous population genetic analyses with autosomal markers in Europe either had a wide geographic but narrow genomic coverage [1, 2], or vice versa [3-6]. We therefore investigated Affymetrix GeneChip 500K genotype data from 2,514 individuals belonging to 23 different subpopulations, widely spread over Europe. Although we found only a low level of genetic differentiation between subpopulations, the existing differences were characterized by a strong continent-wide correlation between geographic and genetic distance. Furthermore, mean heterozygosity was larger, and mean linkage disequilibrium smaller, in southern as compared to northern Europe. Both parameters clearly showed a clinal distribution that provided evidence for a spatial continuity of genetic diversity in Europe. Our comprehensive genetic data are thus compatible with expectations based upon European population history, including the hypotheses of a south-north expansion and/or a larger effective population size in southern than in northern Europe. By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry. © 2008 Elsevier Ltd. All rights reserved.
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| 9. |
- Linderholm, Anna, et al.
(författare)
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Cryptic Contamination and Phylogenetic Nonsense
- 2008
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Ingår i: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 3:5, s. e2316-
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Tidskriftsartikel (refereegranskat)abstract
- Ancient human DNA has been treated cautiously ever since the problems related to this type of material were exposed in the early 1990s, but as sequential genetic data from ancient specimens have been key components in several evolutionary and ecological studies, interest in ancient human DNA is on the increase again. It is especially tempting to approach archaeological and anthropological questions through this type of material, but DNA from ancient human tissue is notoriously complicated to work with due to the risk of contamination with modern human DNA. Various ways of authenticating results based on ancient human DNA have been developed to circumvent the problems. One commonly used method is to predict what the contamination is expected to look like and then test whether the ancient human DNA fulfils this prediction. If it does, the results are rejected as contamination, while if it does not, they are often considered authentic. We show here that human contamination in ancient material may well deviate from local allele frequencies or the distributions to be found among the laboratory workers and archaeologists. We conclude that it is not reliable to authenticate ancient human DNA solely by showing that it is different from what would be expected from people who have handled the material.
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| 10. |
- Malmström, Helena, 1974-
(författare)
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Ancient DNA as a Means to Investigate the European Neolithic
- 2007
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The transition from a hunter-gatherer lifestyle to a farming lifestyle, i.e. the Neolithisation, is arguably the most important event in human prehistory. While the geography and dating of the Neolithisation is well known, the process is still under debate, especially if it occurred through diffusion of ideas or with migrating farmers. The process accelerated when alternative use of domesticated animals increased. Especially the use of dairy products, and the consumption of unprocessed milk, appears to be of importance. As milk consumption (lactose digestion) is dependent upon genetic components, it is debated whether the genetic disposition allowed for dairy production to evolve, or if the usages of dairy products added selection pressure that eventually lead to present day allele frequencies. Molecular genetics have the potential to solve this and similar questions, but only if the contamination problem, where authentic DNA can be distinguished from modern contaminating DNA, can be resolved. Here I investigate the nature and extent of contamination with modern human DNA in museum specimens and explore several approaches to minimise this contamination and to authenticate DNA results from ancient humans. I use real-time quantification, pyrosequencing and FLX-generated clonal sequencing assays to generate data on ancient humans and ancient dogs. I further use the techniques to study the development of lactase persistence and the nature of animal domestication. The results presented show that sample-based contamination is extensive, but can be minimised if treated with bleach. I retrieved authentic HVSI sequences from 30 Neolithic hunter-gatherers and farmers from Sweden, of which eighteen also yielded nuclear data indicating that the farmers had a higher frequency of the allele linked to lactase persistence compared to the hunter-gatherers. I conclude that genetic data from ancient humans as well as from ancient animals can be retrieved and used, but only under high stringency.
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