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The molecular basis of alpha thalassaemia in a South African population
The molecular basis of alpha thalassaemia in the so-called 'Cape Coloured' population of the Western Cape was investigated. Restriction endonuclease digestion, Southern blotting and hybridisation with alpha and zeta globin-specific probes were used to investigate the incidence of the the various alp...
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| Format: | Thesis |
| Language: | English English |
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Division of Medical Biochemistry and Structural Biology
2017
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| _version_ | 1867613974498902016 |
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| access_status_str | Open Access |
| author | Rousseau, Jeanne Rousseau, Jeanne |
| author2 | Mathew, Chris |
| author_browse | Mathew, Chris Rousseau, Jeanne |
| author_facet | Mathew, Chris Rousseau, Jeanne Rousseau, Jeanne |
| author_sort | Rousseau, Jeanne |
| collection | Thesis |
| description | The molecular basis of alpha thalassaemia in the so-called 'Cape Coloured' population of the Western Cape was investigated. Restriction endonuclease digestion, Southern blotting and hybridisation with alpha and zeta globin-specific probes were used to investigate the incidence of the the various alpha thalassaemia determinants and their disorders. Results indicate that one determinant in this population results from the deletion of a single alpha globin gene on the short arm of chromosome 16. In individuals homozygous or heterozygous for this deletion, digestion with restriction endonuclease Bam H1 shows the presence of a shorter 10,5kb alpha globin-specific fragment as opposed to the 14kb fragment found in normal individuals. Individuals with both alpha globin genes deleted on the same chromosome i.e. the genotype --/aa, were detected and their alpha thalassaemia determinant characterised by: 1. a family study 2. quantification of the alpha/gamma glob in gene ratio, and 3. mapping with the zeta globin probe since the deletion extends into the zeta locus. The --/ alpha thalassaemia determinant was found to be of Southeast-Asian origin. A non-deletion form of alpha thalassaemia was also detected in which the alpha globin restriction map appeared to be normal. This condition may have resulted from a point mutation within the alpha ilobin gene region which affects transcription or RNA processing. The DNA of infants born with detectable levels of Hb Bart's in their cord blood was investigated in order to estimate the frequency of the single and double gene deletions in this population. The results indicate that infants with Hb Bart's in the 4 - 8% range predominantly have the genotype -a/-a. Using the data obtained the incidence of the heterozygote was calculated according to the Hardy-Weinberg equation. The calculated incidence of the heterozygote (-a/aa) was found to be 16,9%. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/25549 |
| institution | University of Cape Town (South Africa) |
| language | eng eng |
| last_indexed | 2026-06-10T12:44:40.441Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2017 |
| publishDateRange | 2017 |
| publishDateSort | 2017 |
| publisher | Division of Medical Biochemistry and Structural Biology |
| publisherStr | Division of Medical Biochemistry and Structural Biology |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/25549 The molecular basis of alpha thalassaemia in a South African population The molecular basis of alpha thalassaemia in a South African population Rousseau, Jeanne Rousseau, Jeanne Mathew, Chris Harley, Eric Medical Biochemistry The molecular basis of alpha thalassaemia in the so-called 'Cape Coloured' population of the Western Cape was investigated. Restriction endonuclease digestion, Southern blotting and hybridisation with alpha and zeta globin-specific probes were used to investigate the incidence of the the various alpha thalassaemia determinants and their disorders. Results indicate that one determinant in this population results from the deletion of a single alpha globin gene on the short arm of chromosome 16. In individuals homozygous or heterozygous for this deletion, digestion with restriction endonuclease Bam H1 shows the presence of a shorter 10,5kb alpha globin-specific fragment as opposed to the 14kb fragment found in normal individuals. Individuals with both alpha globin genes deleted on the same chromosome i.e. the genotype --/aa, were detected and their alpha thalassaemia determinant characterised by: 1. a family study 2. quantification of the alpha/gamma glob in gene ratio, and 3. mapping with the zeta globin probe since the deletion extends into the zeta locus. The --/ alpha thalassaemia determinant was found to be of Southeast-Asian origin. A non-deletion form of alpha thalassaemia was also detected in which the alpha globin restriction map appeared to be normal. This condition may have resulted from a point mutation within the alpha ilobin gene region which affects transcription or RNA processing. The DNA of infants born with detectable levels of Hb Bart's in their cord blood was investigated in order to estimate the frequency of the single and double gene deletions in this population. The results indicate that infants with Hb Bart's in the 4 - 8% range predominantly have the genotype -a/-a. Using the data obtained the incidence of the heterozygote was calculated according to the Hardy-Weinberg equation. The calculated incidence of the heterozygote (-a/aa) was found to be 16,9%. 2017-10-11T08:08:55Z 2017-10-11T08:08:55Z 1984 2017-07-10T12:49:22Z Master Thesis Masters MSc (Med) http://hdl.handle.net/11427/25549 eng eng application/pdf Division of Medical Biochemistry and Structural Biology Faculty of Health Sciences University of Cape Town University of Cape Town |
| spellingShingle | Medical Biochemistry Rousseau, Jeanne Rousseau, Jeanne The molecular basis of alpha thalassaemia in a South African population |
| thesis_degree_str | Master's |
| title | The molecular basis of alpha thalassaemia in a South African population |
| title_full | The molecular basis of alpha thalassaemia in a South African population |
| title_fullStr | The molecular basis of alpha thalassaemia in a South African population |
| title_full_unstemmed | The molecular basis of alpha thalassaemia in a South African population |
| title_short | The molecular basis of alpha thalassaemia in a South African population |
| title_sort | molecular basis of alpha thalassaemia in a south african population |
| topic | Medical Biochemistry |
| url | http://hdl.handle.net/11427/25549 |
| work_keys_str_mv | AT rousseaujeanne themolecularbasisofalphathalassaemiainasouthafricanpopulation AT rousseaujeanne themolecularbasisofalphathalassaemiainasouthafricanpopulation AT rousseaujeanne molecularbasisofalphathalassaemiainasouthafricanpopulation AT rousseaujeanne molecularbasisofalphathalassaemiainasouthafricanpopulation |