Full Text Available
Note: Clicking the button above will open the full text document at the original institutional repository in a new window.
Variational analysis of the Ryanodine Receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to Pretoria Medico-Legal Laboratory
Dissertation (MSc (Chemical Pathology))--University of Pretoria, 2019.
Saved in:
| Other Authors: | |
|---|---|
| Format: | Thesis |
| Published: |
University of Pretoria
2020
|
| Subjects: | |
| Tags: |
No Tags, Be the first to tag this record!
|
| _version_ | 1867613655377379328 |
|---|---|
| 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 | © 2019 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, 2019. |
| format | Thesis |
| id | oai:repository.up.ac.za:2263/72853 |
| institution | University of Pretoria (South Africa) |
| last_indexed | 2026-06-10T12:39:35.842Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UPSpace — University of Pretoria Institutional Repository |
| publishDate | 2020 |
| publishDateRange | 2020 |
| publishDateSort | 2020 |
| 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:2263/72853 Variational analysis of the Ryanodine Receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to Pretoria Medico-Legal Laboratory Van Niekerk, Chantal tristan.a.wallace@gmail.com Van Deventer, Barbara Wallace, Tristan A. UCTD Variational analysis SDG-03: Good health and well-being Dissertation (MSc (Chemical Pathology))--University of Pretoria, 2019. Sudden death can be defined as death from natural causes occurring instantaneous or within a few minutes after its cause (Merriam-Webster, 2019). It is globally considered as one of the leading causes of mortality and may also be referred to as sudden unexpected death (SUD) (Tester et al., 2012). This study was an investigation on this gene in the South African population using a number of molecular techniques such as HRM real time PCR, DNA sequencing analysis and variation analysis. Results included several DNA variations found in exons 2, 5, 7, 10, 12, 15, 16, 23 and 28. Most DNA variations were single nucleotide variations (SNVs), however some DNA variations were insertions. Variations found in exons 2, 5, 7, 10, 12, 23 and 28 were in the introns whereas variations found in exons 15, 16 and 28 were in the exons. Exon 15 particularly presented as a ‘hot-spot’ for several highly pathogenic DNA variations. Exon 16 also had one DNA variation in three cases that were found to be pathogenic. National Research Foundation (NRF) National Health Laboratory Service (NHLS) University of Pretoria (UP) em2025 Chemical Pathology MSc (Chemical Pathology) Unrestricted SDG-03: Good health and well-being 2020-01-21T06:24:18Z 2020-01-21T06:24:18Z 2020-04 2019 Dissertation * A2020 http://hdl.handle.net/2263/72853 © 2019 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 Variational analysis SDG-03: Good health and well-being Variational analysis of the Ryanodine Receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to Pretoria Medico-Legal Laboratory |
| title | Variational analysis of the Ryanodine Receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to Pretoria Medico-Legal Laboratory |
| title_full | Variational analysis of the Ryanodine Receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to Pretoria Medico-Legal Laboratory |
| title_fullStr | Variational analysis of the Ryanodine Receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to Pretoria Medico-Legal Laboratory |
| title_full_unstemmed | Variational analysis of the Ryanodine Receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to Pretoria Medico-Legal Laboratory |
| title_short | Variational analysis of the Ryanodine Receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to Pretoria Medico-Legal Laboratory |
| title_sort | variational analysis of the ryanodine receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to pretoria medico legal laboratory |
| topic | UCTD Variational analysis SDG-03: Good health and well-being |
| url | http://hdl.handle.net/2263/72853 |