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An investigation of DNA sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries
Includes abstract.
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Department of Human Biology
2014
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| _version_ | 1867613340666167297 |
|---|---|
| access_status_str | Open Access |
| author | Hay, Melanie |
| author2 | Collins, Malcolm |
| author_browse | Collins, Malcolm Hay, Melanie |
| author_facet | Collins, Malcolm Hay, Melanie |
| author_sort | Hay, Melanie |
| collection | Thesis |
| description | Includes abstract. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/3242 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:34:33.896Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2014 |
| publishDateRange | 2014 |
| publishDateSort | 2014 |
| publisher | Department of Human Biology |
| publisherStr | Department of Human Biology |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/3242 An investigation of DNA sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries Hay, Melanie Collins, Malcolm Posthumus, Mike September, Alison Medicine Includes abstract. Includes bibliographical references. The aim of this dissertation was to use a case-control genetic study to investigate the association of polymorphisms within the COL5A1, MIR608, COL11A1 and COL11A2, genes with AT and/or ACL injuries in Caucasian populations. These aims were explored in three studies: i) Determine whether the COL5A1 rs71746744 (-/AGGG) and rs1134170 (A/T) polymorphisms and the MIR608 rs4919510 (C/G) polymorphism are associated with ACL rupture risk (Chapter 2). ii) Determine whether the COL11A1 rs3753841 (T/C) and rs1676486 (C/T) polymorphisms and the COL11A2 rs1799907 (A/T) polymorphism are associated with ACL rupture risk. A secondary aim was to determine whether the COL11A1 and COL11A2 polymorphisms interact with COL5A1 rs71746744 (-/AGGG) to modulate ACL rupture risk (Chapter 3). iii) Determine whether the COL11A1 rs3753841 (T/C) and rs1676486 (C/T) and COL11A2 rs1799907 (A/T) polymorphisms are associated with AT risk, and investigate whether these polymorphisms interact with each other, or with the COL5A1 rs71746744 (-/AGGG) polymorphism to modulate the risk of developing AT (Chapter 4). 2014-07-28T18:16:38Z 2014-07-28T18:16:38Z 2013 Master Thesis Masters MSc http://hdl.handle.net/11427/3242 eng application/pdf Department of Human Biology Faculty of Health Sciences University of Cape Town |
| spellingShingle | Medicine Hay, Melanie An investigation of DNA sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries |
| thesis_degree_str | Master's |
| title | An investigation of DNA sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries |
| title_full | An investigation of DNA sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries |
| title_fullStr | An investigation of DNA sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries |
| title_full_unstemmed | An investigation of DNA sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries |
| title_short | An investigation of DNA sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries |
| title_sort | investigation of dna sequence variants in genes that regulate collagen fibrillogenesis and predisposition to musculoskeletal soft tissue injuries |
| topic | Medicine |
| url | http://hdl.handle.net/11427/3242 |
| work_keys_str_mv | AT haymelanie aninvestigationofdnasequencevariantsingenesthatregulatecollagenfibrillogenesisandpredispositiontomusculoskeletalsofttissueinjuries AT haymelanie investigationofdnasequencevariantsingenesthatregulatecollagenfibrillogenesisandpredispositiontomusculoskeletalsofttissueinjuries |