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The assessment of forensic molecular markers for skin colour in South Africans
The scientific development of innovative molecular techniques has transformed the approach towards human identification. In forensic casework, the emergence of molecular phenotyping, or phenotypic prediction from DNA, has mitigated some challenges involving the unavailability of references samples f...
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| Format: | Thesis |
| Language: | English |
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Department of Clinical Laboratory Sciences
2021
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| _version_ | 1867613343401902080 |
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| access_status_str | Open Access |
| author | Vanmali, Akshay |
| author2 | Heathfield, Laura |
| author_browse | Heathfield, Laura Vanmali, Akshay |
| author_facet | Heathfield, Laura Vanmali, Akshay |
| author_sort | Vanmali, Akshay |
| collection | Thesis |
| description | The scientific development of innovative molecular techniques has transformed the approach towards human identification. In forensic casework, the emergence of molecular phenotyping, or phenotypic prediction from DNA, has mitigated some challenges involving the unavailability of references samples for traditional forensic DNA analysis. Molecular phenotyping via SNP analysis can be used as a tool in a forensic setting to predict physical traits, such as hair, skin and eye colour, and provide investigative leads. Several ancestry informative markers (AIMs) have previously been associated with human skin colour in mainly the European and North American population groups, while admixed populations are hardly studied. The present study aims to contribute towards this gap by investigating the relationship between two AIMs (SLC45A2, rs16891982 and SLC24A5, rs1426654) that are typically involved in molecular phenotyping, and melanin index (MI) in the South African (SA) metapopulation (n = 389). The self-reported ancestry, ethnicity and relevant biographic information for each participant was documented and MI was recorded using a dermaspectrophotometer. DNA was extracted from saliva samples and PCR amplification of target regions was performed. Thereafter, SNaPshot® PCR was used to genotype the variants. Significant differences (p < 0.0001) were observed between MI readings and ancestral as well as population census groups. A generalised linear model (GLM) was developed which could accurately predicted the MI readings for each genotype combination within the 95 % confidence interval of the recorded MI readings. Our results suggest that these two markers were consistently associated with MI in the admixed SA population and are thus informative to predict MI in a forensic setting. Finally, this was the first study in a SA context to use SNP analysis for objective MI prediction. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/33029 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:34:38.153Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| publisher | Department of Clinical Laboratory Sciences |
| publisherStr | Department of Clinical Laboratory Sciences |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/33029 The assessment of forensic molecular markers for skin colour in South Africans Vanmali, Akshay Heathfield, Laura Mole, Calvin admixture ancestry informative markers melanin index molecular phenotyping The scientific development of innovative molecular techniques has transformed the approach towards human identification. In forensic casework, the emergence of molecular phenotyping, or phenotypic prediction from DNA, has mitigated some challenges involving the unavailability of references samples for traditional forensic DNA analysis. Molecular phenotyping via SNP analysis can be used as a tool in a forensic setting to predict physical traits, such as hair, skin and eye colour, and provide investigative leads. Several ancestry informative markers (AIMs) have previously been associated with human skin colour in mainly the European and North American population groups, while admixed populations are hardly studied. The present study aims to contribute towards this gap by investigating the relationship between two AIMs (SLC45A2, rs16891982 and SLC24A5, rs1426654) that are typically involved in molecular phenotyping, and melanin index (MI) in the South African (SA) metapopulation (n = 389). The self-reported ancestry, ethnicity and relevant biographic information for each participant was documented and MI was recorded using a dermaspectrophotometer. DNA was extracted from saliva samples and PCR amplification of target regions was performed. Thereafter, SNaPshot® PCR was used to genotype the variants. Significant differences (p < 0.0001) were observed between MI readings and ancestral as well as population census groups. A generalised linear model (GLM) was developed which could accurately predicted the MI readings for each genotype combination within the 95 % confidence interval of the recorded MI readings. Our results suggest that these two markers were consistently associated with MI in the admixed SA population and are thus informative to predict MI in a forensic setting. Finally, this was the first study in a SA context to use SNP analysis for objective MI prediction. 2021-03-01T16:11:32Z 2021-03-01T16:11:32Z 2020 2021-03-01T16:10:57Z Master Thesis Masters MPhil http://hdl.handle.net/11427/33029 eng application/pdf Department of Clinical Laboratory Sciences Faculty of Health Sciences |
| spellingShingle | admixture ancestry informative markers melanin index molecular phenotyping Vanmali, Akshay The assessment of forensic molecular markers for skin colour in South Africans |
| thesis_degree_str | Master's |
| title | The assessment of forensic molecular markers for skin colour in South Africans |
| title_full | The assessment of forensic molecular markers for skin colour in South Africans |
| title_fullStr | The assessment of forensic molecular markers for skin colour in South Africans |
| title_full_unstemmed | The assessment of forensic molecular markers for skin colour in South Africans |
| title_short | The assessment of forensic molecular markers for skin colour in South Africans |
| title_sort | assessment of forensic molecular markers for skin colour in south africans |
| topic | admixture ancestry informative markers melanin index molecular phenotyping |
| url | http://hdl.handle.net/11427/33029 |
| work_keys_str_mv | AT vanmaliakshay theassessmentofforensicmolecularmarkersforskincolourinsouthafricans AT vanmaliakshay assessmentofforensicmolecularmarkersforskincolourinsouthafricans |