Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa

dc.contributor.advisorGreenberg, J
dc.contributor.authorSeptember, Alison
dc.date.accessioned2024-02-07T07:18:11Z
dc.date.available2024-02-07T07:18:11Z
dc.date.issued1999
dc.date.updated2024-02-07T07:14:15Z
dc.description.abstractHuntington 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.apacitationSeptember, A. (1999). <i>Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa</i>. (). ,Faculty of Health Sciences ,Department of Medicine. Retrieved from http://hdl.handle.net/11427/39143en_ZA
dc.identifier.chicagocitationSeptember, Alison. <i>"Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa."</i> ., ,Faculty of Health Sciences ,Department of Medicine, 1999. http://hdl.handle.net/11427/39143en_ZA
dc.identifier.citationSeptember, A. 1999. Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa. . ,Faculty of Health Sciences ,Department of Medicine. http://hdl.handle.net/11427/39143en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - September, Alison AB - 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. DA - 1999 DB - OpenUCT DP - University of Cape Town KW - Human Genetics LK - https://open.uct.ac.za PY - 1999 T1 - Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa TI - Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa UR - http://hdl.handle.net/11427/39143 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/39143
dc.identifier.vancouvercitationSeptember A. Molecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa. []. ,Faculty of Health Sciences ,Department of Medicine, 1999 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/39143en_ZA
dc.language.rfc3066eng
dc.publisher.departmentDepartment of Medicine
dc.publisher.facultyFaculty of Health Sciences
dc.subjectHuman Genetics
dc.titleMolecular investigation of the trinucleotide repeats within the Huntington disease gene in Southern Africa
dc.typeThesis / Dissertation
dc.type.qualificationlevelMasters
dc.type.qualificationlevelMSc
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