An evaluation of the discriminating power of methylation patterns in forensic applications

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dc.contributor.advisor Patel, J en
dc.contributor.advisor Stevenson, K en
dc.contributor.advisor Harbison, S en
dc.contributor.author Richards, Rebecca en
dc.date.accessioned 2017-10-03T23:48:10Z en
dc.date.issued 2017 en
dc.identifier.uri http://hdl.handle.net/2292/35850 en
dc.description Full text is available to authenticated members of The University of Auckland only. en
dc.description.abstract DNA methylation is a stable epigenetic modification which displays significant promise in forensic applications. The aim of this research was to assess the performance of DNA methylation markers in two of these: the differentiation of identical twins and the chronological age estimation of a biological sample donor. Candidate CpG sites were identified from the literature for each application and analysed using targeted multiplex amplification of bisulfite converted DNA in combination with massive parallel sequencing. Thirty-one CpG sites from three amplicons were examined in buccal samples collected from five pairs of identical twins. The results of this study confirmed that identical twins can be differentiated at the Alu-Sp and IGF2-shore loci, with all twin pairs displaying significantly different methylation patterns at Alu-Sp. A total of 84 CpG markers from seven loci were investigated in 28 blood samples collected from males and females aged from 22-62 years for the age estimation study. The best model developed for age estimation using blood samples in this research was obtained using ELOVL2 CpG 23, PDE4C CpG 10 and PDE4C CpG 13. This model provided a R2 of 0.891, a standard error of 4.43 years and a mean absolute deviation of 3.26 years. A mean absolute deviation of 3.78 years and a standard error of 4.73 years were obtained from a leave-one-out cross validation. An additional 10 CpG markers from four loci were investigated in eight semen samples collected from males aged from 25-59 years. An age prediction model for semen using NOX4 CpG 1 was developed which provided a R2 of 0.817, a standard error of 5.706 years and a mean absolute deviation of 4.10 years. A mean absolute deviation of 5.73 years and a standard error of 7.094 years were obtained from a leave-one-out cross validation of this model. The results of this research demonstrate that DNA methylation markers could provide information of considerable benefit to investigators. It also demonstrates that multiplex amplification of bisulfite converted DNA is possible and a targeted MPS based assay is a viable alternative to traditional methylation analysis techniques. However, the need for further characterisation of variability in sample duplicates is highlighted. en
dc.publisher ResearchSpace@Auckland en
dc.relation.ispartof Masters Thesis - University of Auckland en
dc.relation.isreferencedby UoA99265061613302091 en
dc.rights Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. en
dc.rights Restricted Item. Available to authenticated members of The University of Auckland. en
dc.rights.uri https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm en
dc.rights.uri http://creativecommons.org/licenses/by-nc-sa/3.0/nz/ en
dc.title An evaluation of the discriminating power of methylation patterns in forensic applications en
dc.type Thesis en
thesis.degree.discipline Forensic Science en
thesis.degree.grantor The University of Auckland en
thesis.degree.level Masters en
dc.rights.holder Copyright: The author en
pubs.elements-id 682403 en
pubs.record-created-at-source-date 2017-10-04 en


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