3. Electronic Theses and Dissertations (ETDs) - All submissions
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Item A reflection on the morality of ownership of genetic material(2011-11-23) De Carvalho, Candice LeeThe question of ownership of genetic material is highly relevant to medical ethics at this point in our history. What has become a major debate is how DNA can, and if it ought to be commoditised; and how and if individuals can keep their genetic information private, or whether it ought to be shared with all. In this research report I question whether genetic information is exceptional when compared with other medical or health-related information. The Kantian view of commoditisation of the body and human dignity is given along with some of the most prominent views on self-ownership. Patenting and genetic biobanking have received much attention in recent years, I focus on these issues and moral questions that surround these practices. The idea of genetic information as a common and natural 'resource' is discussed. If it is indeed a common heritage for all, how ought individuals, populations, researchers and funders to relate to genetic information? I briefly examine what some communities and cultures may have to say about genetic information and I attempt to tie all these varying perspectives together. I find that it is not ownership per se that is often the subject of dispute, but how those who happen to have control over that information share it. I present a possible maxim to guide the sharing of genetic information with others; that patenting does not necessarily amount to an affront to human dignity in the Kantian sense and that inter-cultural perspectives on genetic information may differ significantly. I conclude that how genetic material is shared, or not shared and why seems to depend more on the population in question at any given time and its social, political and economic structures than on the question of ownership per se.Item Molecular profiling of the CFTR gene in black and coloured South African cystic fibrosis patients(2008-09-23T08:23:23Z) De Carvalho, Candice LeeABSTRACT INTRODUCTION: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. The gene mutation profile is extremely heterogeneous and mutations show a variable distribution among population groups. In SA the 3120+1G->A splice site mutation has been found predominantly in Black and Coloured patients. It occurs in Black CF patients at an estimated frequency of 46%. The CF carrier frequency is estimated at 1/34 in Black and 1/55 in Coloured populations, and based on these rates, it is clear that a significant number of Black and Coloured patients remain undiagnosed. Point mutations account for the majority of the mutations that have been found in the CFTR gene. Copy number mutations are, however, increasingly being detected in CF patients through the use of gene dosage-dependant assays. These mutations have been found to occur in the CFTR gene in various African American families and exon rearrangements are thought to account for 1.3% of all CF chromosomes across all populations. AIMS: To use haplotypes to analyse the origin(s) of the 3120+1G->A mutation and the likely frequencies of the remaining unknown mutations. To increase mutation detection in the SA Black and Coloured groups by searching for CFTR gene exons for copy number mutations. METHODS: In patients with at least one copy of the 3120+1G>A mutation haplotype studies will be used to elucidate the origin(s) of this mutation in SA Black and Coloured CF patients, by analyzing pyrosequencing SNP genotype data. In patients with at least one unknown mutation, haplotype studies will reveal the likely relative frequencies of the unknown mutations in these populations. In Black and Coloured CF patients with at least one unknown mutation, a multiplex ligation dependant probe amplification (MLPA) CF kit will be used for the detection of exon copy number mutations. RESULTS: The results of the haplotype data show that there is a G-G-C-G-T-A haplotype, for markers MetD-KM19-J44-T854T-Tub18-J32, associated with the 3120+1G->A mutation in both Black and Coloured patients. Unknown mutation-associated haplotypes indicate that there are two relatively common unknown mutations in each of these populations. MLPA results show that one patient is a carrier of an exon 2 deletion. CONCLUSION: A single origin for the 3120+1G>A mutation in Black and Coloured CF patients is supported by the data. Exon copy number changes in the CFTR gene are not a major mutational mechanism leading to CF in SA Black and Coloured patients.