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Extended population genetic analysis of 12 X-STRs - Exemplified using a Norwegian population sample
Oslo Univ Hosp, Norway.
Linköping University, Department of Biomedical and Clinical Sciences, Division of Molecular Medicine and Virology. Linköping University, Faculty of Medicine and Health Sciences. Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, Linkoping, Sweden.
Oslo Univ Hosp, Norway.
Oslo Univ Hosp, Norway; Natl Board Forens Med, Dept Forens Genet & Forens Toxicol, Linkoping, Sweden.
2022 (English)In: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 60, article id 102745Article in journal (Refereed) Published
Abstract [en]

The use of X-chromosomal markers to resolve questions of relatedness has experienced a significant increase during the last years in forensic genetics. Perhaps primarily due to the emergence of commercial kits, but equally important due to an increased awareness of the utility of those markers. The X-chromosomal inheritance pattern entails that some cases, for instance paternal half-sisters, can potentially be resolved using a few X-chromosomal markers alone. For the statistical assessment in kinship cases it is of importance to have relevant population frequency data. In the present study 631 unrelated males from a Norwegian population sample are analyzed. The resulting haplotypes are compared to previously studied population samples and a deeper analysis of the linkage disequilibrium (LD) structure is conducted. We demonstrate that the power to detect LD will be low when few males, say below 300, are analyzed. We use entropy to describe the degree of LD between multiallelic loci and describe how this measure varies between different studied populations. Large population frequency databases have been recommended when using X-chromosomal markers, and we show that by combining reference da-tabases from genetically similar populations, more precise haplotype frequency estimates can be obtained for rare haplotypes which improves the statistical assessment of the weight of evidence. In addition, we promote the use of simulations to assess the utility of STR markers in contrast to standard forensic parameters. Specifically we perform extensive simulations on cases where X-chromosomal markers are important and illustrate how the results can be used to infer the information gained from these markers.

Place, publisher, year, edition, pages
Elsevier Ireland Ltd , 2022. Vol. 60, article id 102745
Keywords [en]
Argus X-12; X-chromosome; Linkage disequilibrium; Allelic association; Simulations
National Category
Genetics
Identifiers
URN: urn:nbn:se:liu:diva-187286DOI: 10.1016/j.fsigen.2022.102745ISI: 000835763000004PubMedID: 35870434OAI: oai:DiVA.org:liu-187286DiVA, id: diva2:1688003
Available from: 2022-08-17 Created: 2022-08-17 Last updated: 2022-09-08

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