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Forensic analysis of autosomal STR markers using PyrosequencingTM
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
(English)Manuscript (Other (popular science, discussion, etc.))
Identifiers
URN: urn:nbn:se:uu:diva-92901OAI: oai:DiVA.org:uu-92901DiVA: diva2:166216
Available from: 2005-04-13 Created: 2005-04-13 Last updated: 2010-01-14Bibliographically approved
In thesis
1. Evaluation of New Technologies for Forensic DNA Analysis
Open this publication in new window or tab >>Evaluation of New Technologies for Forensic DNA Analysis
2005 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

DNA samples from crime scenes or mass disasters are often limited and degraded which limits the possibility of successful traditional STR analysis. Moreover, there is a need to decrease the turnaround time in criminal investigations. These circumstances require a wider set of assays and technologies to be investigated for potential use in forensic DNA analysis, which has been explored in this thesis work. DNA analysis can also provide a useful tool in forensic pathology investigations.

In a search for mutations involved in The Sudden Infant death Syndrome (SIDS), the entire mitochondrial genome was sequenced in six SIDS infants and shorter mtDNA regions were analysed in paraffin-embedded tissues from an additional 14 SIDS cases. In this sample material no mutations associated with SIDS were found that could explain the death of these infants.

To reduce time, cost and effort related to sequencing of the mtDNA HVI/HVII regions in caseworks, a HVI/HVII mtDNA linear array assay was used as a pre-screening for exclusions of suspects or evidence samples. Using this assay, 56% of the samples involved in casework analysis could be excluded before sequencing was undertaken.

The possibility to use the new array technology was explored in a SNP assay targeting both mtDNA and nuclear SNPs. The system relies on minisequencing in solution prior to hybridisation to tag arrays. Using this system, we demonstrate a rapid, highly multiplexable and flexible array-format for SNP analysis.

The properties of the Pyrosequencing technology being a fast and user-friendly assay was utilised in a study to investigate the possibility to use this method for limited and degraded samples. Ten STR loci, overlapping with standardised kits, were genotyped in 114 Swedish individuals. We found additional variation and higher resolution of repeats at some of these loci that are not detected using standard fragment analysis.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2005. 59 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 27
Keyword
Genetics, STR, SNP, SIDS, mtDNA, HVI/HVII SSOP linear array, minisequencing, tag arrays, Pyrosequencing, Genetik
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-5744 (URN)91-554-6213-8 (ISBN)
Public defence
2005-05-04, Fåhraeussalen, Rudbecklaboratoriet C5, Rudbeck laboratoriet, Uppsala, 13:15
Opponent
Supervisors
Available from: 2005-04-13 Created: 2005-04-13Bibliographically approved

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Pettersson, UAllen, M

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