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Iron and multiple sclerosis
Thesis (MSc (Genetics))--University of Stellenbosch, 2007.
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| Format: | Thesis |
| Language: | English |
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Stellenbosch : University of Stellenbosch
2007
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| _version_ | 1867614032316334080 |
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| access_status_str | Open Access |
| author | Bloem, Liezl |
| author2 | Zaahl, M. G. |
| author_browse | Bloem, Liezl Zaahl, M. G. |
| author_facet | Zaahl, M. G. Bloem, Liezl |
| author_sort | Bloem, Liezl |
| collection | Thesis |
| dc_rights_str_mv | University of Stellenbosch |
| description | Thesis (MSc (Genetics))--University of Stellenbosch, 2007. |
| format | Thesis |
| id | oai:scholar.sun.ac.za:10019.1/2802 |
| institution | Stellenbosch University (South Africa) |
| language | English |
| last_indexed | 2026-06-10T12:45:35.384Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository |
| publishDate | 2007 |
| publishDateRange | 2007 |
| publishDateSort | 2007 |
| publisher | Stellenbosch : University of Stellenbosch |
| publisherStr | Stellenbosch : University of Stellenbosch |
| record_format | dspace |
| source_str | SUNScholar — Stellenbosch University Repository |
| spelling | oai:scholar.sun.ac.za:10019.1/2802 Iron and multiple sclerosis Bloem, Liezl Zaahl, M. G. Van Rensburg, S. J. University of Stellenbosch. Faculty of Agrisciences. Dept. of Genetics. Iron homeostasis Autoimmunity Multiple sclerosis Multiple sclerosis -- Genetic aspects Dissertations -- Genetics Theses -- Genetics Thesis (MSc (Genetics))--University of Stellenbosch, 2007. Multiple sclerosis (MS) is a disease that causes neurological dysfunction. Studies attempting to elucidate the role of genes in MS development may aid efforts to control the damage caused by the disease that affects two million people worldwide, e.g. improved diagnosis and treatment. Although the association of MS and genes has not been fully characterized the proposed genetic etiology has been supported by the observed association of MS with the Major Histocompatibility Complex (MHC), haplotype HLA-DRB1*1501, DRB5*0101, DQA1*0102, DQB1*0602. Iron, or rather the dysregulation thereof, has also been implicated as a precipitating factor in MS development. Considering the factors of iron dysregulation and the genes involved in iron regulation, this study aims to identify variation within genes involved in iron metabolism namely the high iron gene (HFE), solute-carrier family 40 (iron regulated transporter) member 1 gene (SLC40A1), hepcidin anti-microbial peptide (HAMP), cytochrome b reductase 1 (CYBRD1) and hemojuvelin (HJV). Screening of 40 patients (33 female, seven male; 33 Caucasian, seven Coloured) for each of the five genes was achieved by the Heteroduplex Single-Stranded Conformation Polymorphism (HEX-SSCP) technique. Semi-automated DNA sequencing allowed for verification and characterization of the variants detected. Results included identification of four novel variants present in only the Caucasian patient group, characterized as IVS4-53G→A (HFE) (one of 33 patients; 3%), IVS2-65delA (CYBRD1) (two of 32 patients; 6.3%), 3’UTR+26delACGTCACGTTTCAAAACTA (CYBRD1) (one of 31 patients; 3.2%) and 219delG (HJV) (two of 33 patients; 6%). In addition, a total of 15 previously described variants were identified (seven intronic and eight exonic) of which three were also prevalent in only the Caucasian patient group. This study aimed to investigate the differences ... Masters 2007-10-31T12:21:01Z 2010-06-01T08:58:39Z 2007-10-31T12:21:01Z 2010-06-01T08:58:39Z 2007-03 Thesis http://hdl.handle.net/10019.1/2802 en University of Stellenbosch 1892284 bytes application/pdf application/pdf Stellenbosch : University of Stellenbosch |
| spellingShingle | Iron homeostasis Autoimmunity Multiple sclerosis Multiple sclerosis -- Genetic aspects Dissertations -- Genetics Theses -- Genetics Bloem, Liezl Iron and multiple sclerosis |
| title | Iron and multiple sclerosis |
| title_full | Iron and multiple sclerosis |
| title_fullStr | Iron and multiple sclerosis |
| title_full_unstemmed | Iron and multiple sclerosis |
| title_short | Iron and multiple sclerosis |
| title_sort | iron and multiple sclerosis |
| topic | Iron homeostasis Autoimmunity Multiple sclerosis Multiple sclerosis -- Genetic aspects Dissertations -- Genetics Theses -- Genetics |
| url | http://hdl.handle.net/10019.1/2802 |
| work_keys_str_mv | AT bloemliezl ironandmultiplesclerosis |