{"id":{"repo_id":"cape-town","oai_identifier":"oai:open.uct.ac.za:11427/39143"},"canonical_url":"https://search.dev.ndltd.org/etd/cape-town/oai:open.uct.ac.za:11427/39143","repository":{"repo_id":"cape-town","name":"University of Cape Town","base_url":"https://open.uct.ac.za/oai/request"},"display":{"title":"Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa","abstract":"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.","abstract_html":"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.","abstract_has_math":false,"creators":["September, Alison"],"institution":"Department of Medicine","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Greenberg, J"],"committee_chairs":[],"committee_members":[],"year":1999,"date_issued":"1999","date_published":"1999","updated_at":"2026-07-22T22:23:05Z","subjects":["Human Genetics"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11427/39143","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Greenberg, J"]},{"key":"dc:creator","label":"Author","values":["September, Alison"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2024-02-07T07:18:11Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2024-02-07T07:18:11Z"]},{"key":"dc:date.issued","label":"Date","values":["1999"]},{"key":"dc:publisher.department","label":"Dc Publisher Department","values":["Department of Medicine"]},{"key":"dc:type","label":"Dc Type","values":["Thesis / Dissertation"]},{"key":"dc:type.qualificationlevel","label":"Dc Type Qualificationlevel","values":["Masters","MSc"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Human Genetics"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11427/39143"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["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."]},{"key":"dc:title","label":"Title","values":["Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa"]}]}],"canonical_facts":{"dc:contributor.advisor":["Greenberg, J"],"dc:creator":["September, Alison"],"dc:date.accessioned":["2024-02-07T07:18:11Z"],"dc:date.available":["2024-02-07T07:18:11Z"],"dc:date.issued":["1999"],"dc:description.abstract":["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."],"dc:identifier.uri":["http://hdl.handle.net/11427/39143"],"dc:publisher.department":["Department of Medicine"],"dc:subject":["Human Genetics"],"dc:title":["Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa"],"dc:type":["Thesis / Dissertation"],"dc:type.qualificationlevel":["Masters","MSc"]},"updated_at":"2026-07-22T22:23:05Z"}