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Hereditary paraganglioma in South Africa : An investigation of the Succinate-ubiquinone Oxidoreductase subunit genes, SDHB, SDHC and SDHD
Dissertation (MSc)--University of Pretoria, 2014.
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| Format: | Thesis |
| Language: | English |
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University of Pretoria
2021
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| _version_ | 1867613632889618432 |
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| access_status_str | Open Access |
| author2 | Van Rensburg, Elizabeth J. |
| author_browse | Van Rensburg, Elizabeth J. |
| author_facet | Van Rensburg, Elizabeth J. |
| collection | Thesis |
| dc_rights_str_mv | © 2020 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)--University of Pretoria, 2014. |
| format | Thesis |
| id | oai:repository.up.ac.za:2263/79271 |
| institution | University of Pretoria (South Africa) |
| language | English |
| last_indexed | 2026-06-10T12:39:14.512Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UPSpace — University of Pretoria Institutional Repository |
| publishDate | 2021 |
| publishDateRange | 2021 |
| publishDateSort | 2021 |
| 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:2263/79271 Hereditary paraganglioma in South Africa : An investigation of the Succinate-ubiquinone Oxidoreductase subunit genes, SDHB, SDHC and SDHD Van Rensburg, Elizabeth J. nadja.louw@gmail.com Louw, Nadja UCTD Dissertation (MSc)--University of Pretoria, 2014. Paraganglioma (PGL) are tumours occurring in the head-and-neck -, intra-abdominal - and thoracic paraganglia. Germ-line mutations in genes encoding the subunits of mitochondrial succinate dehydrogenase complex II (SDHB, SDHC, SDHD) and the SDHAF2 gene are involved in hereditary paraganglioma. Our aim was to identify mutations within these genes in ten South African PGL families. Individuals were screened for mutations in SDHAF2 using Sanger sequencing and Multiplex Ligationdependent Probe Amplification was utilised to investigate large rearrangements in these genes. A 7905bp SDHB exon 3 deletion [c.201-4429_287-933del], was identified in all SA families. The same deletion is reported as a founder mutation in Dutch PGL families. Genotype analysis revealed a common haplotype at the SDHB locus between SA and Dutch patients, indicating common ancestry. This is the first Afrikaner SDHB founder mutation. These results now enable predictive testing of other family members and allow better clinical management of the families. Genetics MSc Unrestricted 2021-04-06T07:22:36Z 2021-04-06T07:22:36Z 2014/07/01 2014 Dissertation Louw, N 2014, Hereditary paraganglioma in South Africa : An investigation of the Succinate-ubiquinone Oxidoreductase subunit genes, SDHB, SDHC and SDHD, MSc Dissertation, University of Pretoria, Pretoria, viewed yymmdd <http://hdl.handle.net/2263/79271> M14/9/378 http://hdl.handle.net/2263/79271 en © 2020 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 Hereditary paraganglioma in South Africa : An investigation of the Succinate-ubiquinone Oxidoreductase subunit genes, SDHB, SDHC and SDHD |
| title | Hereditary paraganglioma in South Africa : An investigation of the Succinate-ubiquinone Oxidoreductase subunit genes, SDHB, SDHC and SDHD |
| title_full | Hereditary paraganglioma in South Africa : An investigation of the Succinate-ubiquinone Oxidoreductase subunit genes, SDHB, SDHC and SDHD |
| title_fullStr | Hereditary paraganglioma in South Africa : An investigation of the Succinate-ubiquinone Oxidoreductase subunit genes, SDHB, SDHC and SDHD |
| title_full_unstemmed | Hereditary paraganglioma in South Africa : An investigation of the Succinate-ubiquinone Oxidoreductase subunit genes, SDHB, SDHC and SDHD |
| title_short | Hereditary paraganglioma in South Africa : An investigation of the Succinate-ubiquinone Oxidoreductase subunit genes, SDHB, SDHC and SDHD |
| title_sort | hereditary paraganglioma in south africa an investigation of the succinate ubiquinone oxidoreductase subunit genes sdhb sdhc and sdhd |
| topic | UCTD |
| url | http://hdl.handle.net/2263/79271 |