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Die gebruik van restriksie fragment lengte polimorfismes as genetiese merkers vir die vroee diagnose van familiele kanker van die kolon
Thesis (MSc) -- Stellenbosch University, 1992.
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| Format: | Thesis |
| Language: | Afrikaans |
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Stellenbosch : Stellenbosch University
2012
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| _version_ | 1867614123217387520 |
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| access_status_str | Open Access |
| author | Grobbelaar, Johanna J |
| author2 | Retief, A. E. |
| author_browse | Grobbelaar, Johanna J Retief, A. E. |
| author_facet | Retief, A. E. Grobbelaar, Johanna J |
| author_sort | Grobbelaar, Johanna J |
| collection | Thesis |
| dc_rights_str_mv | Stellenbosch University |
| description | Thesis (MSc) -- Stellenbosch University, 1992. |
| format | Thesis |
| id | oai:scholar.sun.ac.za:10019.1/57788 |
| institution | Stellenbosch University (South Africa) |
| language | Afrikaans |
| last_indexed | 2026-06-10T12:47:00.921Z |
| license_str | Other — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository |
| publishDate | 2012 |
| publishDateRange | 2012 |
| publishDateSort | 2012 |
| publisher | Stellenbosch : Stellenbosch University |
| publisherStr | Stellenbosch : Stellenbosch University |
| record_format | dspace |
| source_str | SUNScholar — Stellenbosch University Repository |
| spelling | oai:scholar.sun.ac.za:10019.1/57788 Die gebruik van restriksie fragment lengte polimorfismes as genetiese merkers vir die vroee diagnose van familiele kanker van die kolon Grobbelaar, Johanna J Retief, A. E. Joubert Oosthuizen, C. J. Stellenbosch University. Faculty of Medicine and Health Sciences. Dept. of Biomedical Sciences. Division of Molecular Biology and Human Genetics. Colon (Anatomy) -- Cancer -- Diagnosis Dissertations -- Medicine Thesis (MSc) -- Stellenbosch University, 1992. Familial adenomatous polyposis coli (APC) is a dominantly inherited autosomal disorder characterized by early onset of multiple adenomatous polyps of the colon which develop into colorectal adenocarcinoma. Candidates for the disease are subjected to anxiety that they might develop cancer, as well as the necessity of regular expensive and cumbersome medical investigations. The gene responsible for APC has been assigned to chromosome 5q22. With DNA markers closely linked to the APC gene, the inheritance of the gene can now be traced within a family, allowing for presymptomatic diagnosis in some cases. The purpose of this study was to investigate the APC gene in the South African population by means of isolating new probes and using them, as well as known ones, to determine the haplotypes that segregate with APC in the South African population. Our findings were then correlated with international data to determine if variation exists to enable a presymptomatic diagnosis. To generate new DNA markers forty two unique clones were isolated from a genomic chromosome-5 library. Twenty recombinants were used in a search for restriction fragment length polymorphisms. Eighteen were mapped to specific regions on chromosome 5 with the use of a somatic cell hybrid. Two recombinants identified a polymorphic locus for which the population frequency and Mendelian heredity were determined. Both these recombinants were mapped to band 5q23 by in situ hybridization. Two new and three known probes (P2, P92, M4, C11p11 and λ227), were used in a segregation study on 11 South African familial adenomatous polyposis coli families. Haplotype analyses were performed for eleven South African APC families. Ten families were informative and six of a possible 11 haplotypes were associated with APC. Eight probe systems were used to determine the haplotypes associated with the disease. Theoretically 288 haplotypes are possible, but only six segregated with APC in the South African families. The most common haplotype is present in 36% of the APC families. This haplotype study shows that more than one mutation is responsible for APC in the South African population, however the two most common haplotypes segregate in 63% of the South African APC families. With the marker and haplotype information gathered, presymptomatic diagnosis can be offered to some individuals at risk. Nine different mutations have already been described in the APC gene. With an increasing number of mutations it becomes more difficult to present an accurate and cost effective diagnosis to at risk individuals. The identification of haplotypes decreases the use of probe systems per individual in a family if the disease associated haplotype of the family is known. The ultimate goal however, is to have a molecular diagnosis for every individual without the necessity of family studies. This is only possible if the APC gene is investigated directly. The identification of haplotypes in the population gives an indication of variation of mutations to be analysed. The latest research shows that the same gene may be responsible for APC and non-familial colon cancer in which case the molecular investigations will be appropriate to both types of cancer. Masters 2012-08-27T11:38:39Z 2012-08-27T11:38:39Z 1992 Thesis http://hdl.handle.net/10019.1/57788 af Stellenbosch University 120 pages application/pdf Stellenbosch : Stellenbosch University |
| spellingShingle | Colon (Anatomy) -- Cancer -- Diagnosis Dissertations -- Medicine Grobbelaar, Johanna J Die gebruik van restriksie fragment lengte polimorfismes as genetiese merkers vir die vroee diagnose van familiele kanker van die kolon |
| title | Die gebruik van restriksie fragment lengte polimorfismes as genetiese merkers vir die vroee diagnose van familiele kanker van die kolon |
| title_full | Die gebruik van restriksie fragment lengte polimorfismes as genetiese merkers vir die vroee diagnose van familiele kanker van die kolon |
| title_fullStr | Die gebruik van restriksie fragment lengte polimorfismes as genetiese merkers vir die vroee diagnose van familiele kanker van die kolon |
| title_full_unstemmed | Die gebruik van restriksie fragment lengte polimorfismes as genetiese merkers vir die vroee diagnose van familiele kanker van die kolon |
| title_short | Die gebruik van restriksie fragment lengte polimorfismes as genetiese merkers vir die vroee diagnose van familiele kanker van die kolon |
| title_sort | die gebruik van restriksie fragment lengte polimorfismes as genetiese merkers vir die vroee diagnose van familiele kanker van die kolon |
| topic | Colon (Anatomy) -- Cancer -- Diagnosis Dissertations -- Medicine |
| url | http://hdl.handle.net/10019.1/57788 |
| work_keys_str_mv | AT grobbelaarjohannaj diegebruikvanrestriksiefragmentlengtepolimorfismesasgenetiesemerkersvirdievroeediagnosevanfamilielekankervandiekolon |