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Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population
Dissertation (MSc (Chemical Pathology))--University of Pretoria, 2022.
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| Format: | Thesis |
| Language: | English |
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University of Pretoria
2023
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| _version_ | 1867613525540601856 |
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| access_status_str | Open Access |
| author2 | Van Niekerk, Chantal |
| author_browse | Van Niekerk, Chantal |
| author_facet | Van Niekerk, Chantal |
| collection | Thesis |
| dc_rights_str_mv | © 2022 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. |
| description | Dissertation (MSc (Chemical Pathology))--University of Pretoria, 2022. |
| format | Thesis |
| id | oai:repository.up.ac.za:2263/89232 |
| institution | University of Pretoria (South Africa) |
| language | English |
| last_indexed | 2026-06-10T12:37:32.074Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UPSpace — University of Pretoria Institutional Repository |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| publisher | University of Pretoria |
| publisherStr | University of Pretoria |
| record_format | dspace |
| source_str | UPSpace — University of Pretoria Institutional Repository |
| spelling | oai:repository.up.ac.za:2263/89232 Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population Van Niekerk, Chantal u15031153@tuks.co.za Van Deventer, Barbara Hawksley, Megan UCTD Sudden unexpected death KCNQ1 gene South African population QT syndromes Cardiac Potassium SDG-03: Good health and well-being SDG-09: Industry, innovation and infrastructure Dissertation (MSc (Chemical Pathology))--University of Pretoria, 2022. This research aims to analyse the KCNQ1 gene in sudden unexpected deaths in a young South African population, to better understand the prevalence of variations within this gene. The KCNQ1 gene is a potassium ion channel protein, which is found in cardiac cells. Variations within this gene have been linked to cardiac channelopathies such as long and short QT syndromes. This research extracted DNA from blood samples of 66 deceased individuals received from the Pretoria Medico-Legal Laboratory, who were under the age of 50, and 19 control samples, received from volunteers who had signed informed consent. The exons of the KCNQ1 gene were optimised using primers and real-time PCR to be able to group similar cases together using HRM analysis. One case from each similarity group was sequenced. The respective chromatogram results, from the Sanger sequencing, were then used to determine if any variations were present. The variations found were then compared to previously published results to determine if they were novel. Intronic and exonic variants were found; all the variants were classified as benign. These findings showed that this gene may not be susceptible to pathogenic variations. However, an exon did have a prevalent variation, which could indicate the exon as a variable region, warranting further investigation. em2026 Chemical Pathology MSc (Chemical Pathology) Unrestricted SDG-03: Good health and well-being SDG-09: Industry, innovation and infrastructure 2023-02-07T12:00:37Z 2023-02-07T12:00:37Z 2023-04-21 2022 Dissertation * A2023 https://repository.up.ac.za/handle/2263/89232 DOI: https://doi.org/10.25403/UPresearchdata.22012745.v1 10.25403/UPresearchdata.22012745 en © 2022 University of Pretoria. All rights reserved. The copyright in this work vests in the University of Pretoria. No part of this work may be reproduced or transmitted in any form or by any means, without the prior written permission of the University of Pretoria. application/pdf University of Pretoria |
| spellingShingle | UCTD Sudden unexpected death KCNQ1 gene South African population QT syndromes Cardiac Potassium SDG-03: Good health and well-being SDG-09: Industry, innovation and infrastructure Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population |
| title | Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population |
| title_full | Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population |
| title_fullStr | Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population |
| title_full_unstemmed | Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population |
| title_short | Analysis of the potassium voltage-gated channel subfamily Q member 1 gene in sudden unexplained deaths in a South African population |
| title_sort | analysis of the potassium voltage gated channel subfamily q member 1 gene in sudden unexplained deaths in a south african population |
| topic | UCTD Sudden unexpected death KCNQ1 gene South African population QT syndromes Cardiac Potassium SDG-03: Good health and well-being SDG-09: Industry, innovation and infrastructure |
| url | https://repository.up.ac.za/handle/2263/89232 |