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Investigation into X-STR haplotype frequencies for forensic human identification in South Africa
The utilisation of X-chromosome short tandem repeats (X-STRs) for DNA profiling has been demonstrated to be particularly useful in resolving distant familial relations and deficiency paternity testing. The implementation of X-STRs within a medico-legal context requires baseline frequency data for th...
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| Format: | Thesis |
| Language: | English |
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Department of Pathology
2024
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| _version_ | 1867614247443234816 |
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| access_status_str | Open Access |
| author | Whittaker, Amy-Leigh |
| author2 | Mole, Calvin |
| author_browse | Mole, Calvin Whittaker, Amy-Leigh |
| author_facet | Mole, Calvin Whittaker, Amy-Leigh |
| author_sort | Whittaker, Amy-Leigh |
| collection | Thesis |
| description | The utilisation of X-chromosome short tandem repeats (X-STRs) for DNA profiling has been demonstrated to be particularly useful in resolving distant familial relations and deficiency paternity testing. The implementation of X-STRs within a medico-legal context requires baseline frequency data for the general population to allow for appropriate statistical interpretations of results. This study aimed to generate the first X-STR data for the South African population andinternally validate the Qiagen Investigator Argus X-12 QS kit. Biological samples from 781 South African individuals (517 males and 264 females) with either African, mixed, European, or Indian/Asian ancestry were processed. Statistical analyses were performed using StatsX and Arlequin. Herein, allele and haplotype frequencies and forensic parameters for the South African population are reported, as well as data related to the reproducibility, sensitivity, limit of detection, and concordance of the Investigator Argus X-12 QS kit. DXS10135 was the most informative locus, while DXS7423 was the least informative locus. The combined power of discrimination for both males and females was greater than 0.999999999. The haplotype diversity of all four linkage groups exceeded 0.993. Linkage group 1 was the most informative, with 421 unique haplotypes. Possible linkage disequilibrium was detected in five loci pairs in male samples and three loci pairs in female samples. However, it is expected that the effects of false linkage disequilibrium were present, and only loci pairs within the same linkage group may be in true linkage disequilibrium. All loci in female samples were in Hardy-Weinberg equilibrium, except DXS10148. Additionally, a total of 59 off-ladder alleles were identified. The discriminatory power of these results suggests X-STRs may be beneficial for forensic casework in South Africa. The availability of this data could allow this method to be used locally to assist with civil inheritance disputes and the identification of unknown individuals. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/39919 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:49:00.741Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2024 |
| publishDateRange | 2024 |
| publishDateSort | 2024 |
| publisher | Department of Pathology |
| publisherStr | Department of Pathology |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/39919 Investigation into X-STR haplotype frequencies for forensic human identification in South Africa Whittaker, Amy-Leigh Mole, Calvin Pearce Brendon Pathology The utilisation of X-chromosome short tandem repeats (X-STRs) for DNA profiling has been demonstrated to be particularly useful in resolving distant familial relations and deficiency paternity testing. The implementation of X-STRs within a medico-legal context requires baseline frequency data for the general population to allow for appropriate statistical interpretations of results. This study aimed to generate the first X-STR data for the South African population andinternally validate the Qiagen Investigator Argus X-12 QS kit. Biological samples from 781 South African individuals (517 males and 264 females) with either African, mixed, European, or Indian/Asian ancestry were processed. Statistical analyses were performed using StatsX and Arlequin. Herein, allele and haplotype frequencies and forensic parameters for the South African population are reported, as well as data related to the reproducibility, sensitivity, limit of detection, and concordance of the Investigator Argus X-12 QS kit. DXS10135 was the most informative locus, while DXS7423 was the least informative locus. The combined power of discrimination for both males and females was greater than 0.999999999. The haplotype diversity of all four linkage groups exceeded 0.993. Linkage group 1 was the most informative, with 421 unique haplotypes. Possible linkage disequilibrium was detected in five loci pairs in male samples and three loci pairs in female samples. However, it is expected that the effects of false linkage disequilibrium were present, and only loci pairs within the same linkage group may be in true linkage disequilibrium. All loci in female samples were in Hardy-Weinberg equilibrium, except DXS10148. Additionally, a total of 59 off-ladder alleles were identified. The discriminatory power of these results suggests X-STRs may be beneficial for forensic casework in South Africa. The availability of this data could allow this method to be used locally to assist with civil inheritance disputes and the identification of unknown individuals. 2024-06-19T07:33:31Z 2024-06-19T07:33:31Z 2023 2024-06-06T13:14:25Z Thesis / Dissertation Masters MPhil http://hdl.handle.net/11427/39919 eng application/pdf Department of Pathology Faculty of Health Sciences |
| spellingShingle | Pathology Whittaker, Amy-Leigh Investigation into X-STR haplotype frequencies for forensic human identification in South Africa |
| thesis_degree_str | Master's |
| title | Investigation into X-STR haplotype frequencies for forensic human identification in South Africa |
| title_full | Investigation into X-STR haplotype frequencies for forensic human identification in South Africa |
| title_fullStr | Investigation into X-STR haplotype frequencies for forensic human identification in South Africa |
| title_full_unstemmed | Investigation into X-STR haplotype frequencies for forensic human identification in South Africa |
| title_short | Investigation into X-STR haplotype frequencies for forensic human identification in South Africa |
| title_sort | investigation into x str haplotype frequencies for forensic human identification in south africa |
| topic | Pathology |
| url | http://hdl.handle.net/11427/39919 |
| work_keys_str_mv | AT whittakeramyleigh investigationintoxstrhaplotypefrequenciesforforensichumanidentificationinsouthafrica |