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Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa
Huntington disease (HD) is an autosom 1 dominant, progressive neurodegenerative condition, which usually presents in mid-life. The disease-causing mutation was identified in 1993 and entails the expansion of an unstable repeat (CAG)n within exon 1 of the, HD gene (IT-15). A polymorphic (CCG)n repea...
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| Format: | Thesis |
| Language: | English |
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Department of Medicine
2024
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| _version_ | 1867613242981875712 |
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| access_status_str | Open Access |
| author | September, Alison |
| author2 | Greenberg, J |
| author_browse | Greenberg, J September, Alison |
| author_facet | Greenberg, J September, Alison |
| author_sort | September, Alison |
| collection | Thesis |
| description | Huntington disease (HD) is an autosom 1 dominant, progressive neurodegenerative condition, which usually presents in mid-life. The disease-causing mutation was identified in 1993 and entails the expansion of an unstable repeat (CAG)n within exon 1 of the, HD gene (IT-15). A polymorphic (CCG)n repeat has been identified immediately 3' to the unstable disease-causing (CAG)n repeat, which is in linkage disequilibrium on HD chromosomes. This study was undertaken to investigate the polymorphic repeats; (CAG)n and (CCG)n within the HD gene, in a sub-group of HD patients and family members from a population where HD is infrequently observed. Primer pairs were used to amplify each trinucleotide repeat separately. Molecular investigations of 3 Southern African (SA) populations (SA indigenous black population, Mixed ancestry, and Caucasian populations) revealed that the (CAG)n repeat on the 300 non-HD associated chromosomes ranged from 11-37 repeats while repeats ranging from 38-101 were observed on the 106 HD-associated chromosomes analysed. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/39143 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:33:01.081Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2024 |
| publishDateRange | 2024 |
| publishDateSort | 2024 |
| publisher | Department of Medicine |
| publisherStr | Department of Medicine |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/39143 Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa September, Alison Greenberg, J Human Genetics Huntington disease (HD) is an autosom 1 dominant, progressive neurodegenerative condition, which usually presents in mid-life. The disease-causing mutation was identified in 1993 and entails the expansion of an unstable repeat (CAG)n within exon 1 of the, HD gene (IT-15). A polymorphic (CCG)n repeat has been identified immediately 3' to the unstable disease-causing (CAG)n repeat, which is in linkage disequilibrium on HD chromosomes. This study was undertaken to investigate the polymorphic repeats; (CAG)n and (CCG)n within the HD gene, in a sub-group of HD patients and family members from a population where HD is infrequently observed. Primer pairs were used to amplify each trinucleotide repeat separately. Molecular investigations of 3 Southern African (SA) populations (SA indigenous black population, Mixed ancestry, and Caucasian populations) revealed that the (CAG)n repeat on the 300 non-HD associated chromosomes ranged from 11-37 repeats while repeats ranging from 38-101 were observed on the 106 HD-associated chromosomes analysed. 2024-02-07T07:18:11Z 2024-02-07T07:18:11Z 1999 2024-02-07T07:14:15Z Thesis / Dissertation Masters MSc http://hdl.handle.net/11427/39143 eng application/pdf Department of Medicine Faculty of Health Sciences |
| spellingShingle | Human Genetics September, Alison Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa |
| thesis_degree_str | Master's |
| title | Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa |
| title_full | Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa |
| title_fullStr | Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa |
| title_full_unstemmed | Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa |
| title_short | Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa |
| title_sort | molecular investigation of the trinucleotide repeats within the huntington disease gene in southern africa |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/39143 |
| work_keys_str_mv | AT septemberalison molecularinvestigationofthetrinucleotiderepeatswithinthehuntingtondiseasegeneinsouthernafrica |