Thesis (M. OPT.) -- University of Limpopo, 2001 / Refer to document

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This research charts the long cultural trajectory of albinism from early modern travel encounters and Enlightenment exhibitions to medical classification and biological experimentation. It argues the whiteness of albinism functioned as a visible provocation to thinkers involved in work crucial to major conceptual developments in western science and medicine. It stresses this rare complexion was a prism through which medical and scientific researchers studied human variation, disease and inheritance. It examines how albinism paralleled a broader historical production of modern racial and pathological identities. T¬his research traces medico-scientific discourses in order to understand their affect on people diagnosed with albinism. It commences with analysis of ‘unusually white’ people in travel narratives and Enlightenment ephemera between 1650-1799. It bridges plural representations of ‘unusual whiteness’ as sub-human or racially distinct with the crystallisation from the 1770s of a pathological definition for ‘leucoethiopia’. It demonstrates circulation of medical case studies and the formal classification of albinism as congenital disease by medical men in 1822 reflected a far-reaching revolution in medical thought and practice across Europe. It links this medical paradigm shift with the rise of heredity theory from the 1850s. It argues widespread experimentation with albino animals supported fierce early twentieth-century debates among biologists about Mendel’s laws of heredity. It concludes with analysis of the dialectic between medical knowledge about albinism and ‘albino’ identities. It argues people with albinism both internalised and camouflaged medical associations with defect through the adoption of class privilege and individual social tactics. Overall, this research makes a significant claim to rethink the histories of race, disability and medicine. It spotlights albinism as a critical nexus to understand the making of the normal and the pathological body, and it pinpoints the unstable relationship between medical diagnosis and individual agency.

Magister Scientiae - MSc / Doubled Haploid (DH) Technology is an important tool for plant breeding and biotechnological applications as it accelerates the breeding cycle of plants by shortening the time required to attain homozygosity. Anther culture has become one of the most frequent and well-established methods for the induction of haploid embryogenesis and regeneration in barley. Anther culture is easily reproduced and workable for a wide range of genotypes. The aim of this study was to determine the optimal pre-treatment for barley anther culture. Three pre-treatments, 0.3 M Mannitol, 0.7 M Mannitol and a cold treatment with a moist cloth (CMC), were studied. The results suggest that CMC is the optimal pre-treatment to use for green plant regeneration. Anthers treated with CMC showed a higher response percentage than that of 0.7 M Mannitol and 0.3 M Mannitol. CMC also induced a significantly higher callus formation and green plant regeneration frequencies than 0.7 M Mannitol and 0.3 M Mannitol. Further research has to be conducted to further optimize green plant yields per treatment as well as reduce the number of albinos regenerated through barley anther culture.

Melanin deficiency in persons with albinism predisposes them to significant health risks. Persons with albinism have varying degrees of low vision, and skin cancer has been identified as the primary cause of morbidity and mortality in this population, especially in Sub-Saharan Africa. In addition, persons with albinism face mental health issues due to discrimination, stigma, marginalisation and social exclusion. This study relied on a review of relevant national and international legal instruments, journal articles and media reports to assess the legal and institutional arrangements to respect, promote, protect and fulfil the right to health in Ghana and examine their conformity to the right to health of persons with albinism under international human rights law. The study showed that a lack of information and scientific understanding of the condition leads to myths, misconceptions and prejudices, fuelling discrimination, stigma, marginalisation and social exclusion. Consequently, these social factors negatively impact the level of participation of persons with albinism in decision making in all aspects of life including, political, social, civic and cultural life, with consequential effects on their access to healthcare. As a result, the study recommends legislative and administrative measures, provision of reasonable accommodation, and access to information to promote, protect and fulfil the rights to health of persons with albinism in Ghana in line with international human rights laws. / Mini Dissertation (MPhil (Human Rights and Democratisation in Africa))-University of Pretoria, 2021. / University of Pretoria / Centre for Human Rights / MPhil (Human Rights and Democratisation in Africa) / Unrestricted

My thesis focuses on the experiences of people with albinism in higher education (HE) in Tanzania. Albinism is a genetically inherited condition and it affects people of all ethnic backgrounds worldwide. In Tanzania, the condition affects one in every 1,400 people. People with albinism in Tanzania often face social discrimination, superstition, and prejudice including murder threats due to myths and beliefs that their body parts are a source of wealth and prosperity. They also experience physical challenges including threats from the African tropical sun and visual impairment. All these factors interact with educational opportunities. Information about the oppression, killings and amputation of body parts of people with albinism in Tanzania has been widely reported in the media globally. However, albinism remains socially under-researched and under-theorized – especially in relation to how it interacts with HE opportunity structures. This research attempts to contribute to existing literature and construct new insights into albinism and HE. In so doing, I draw upon a range of theoretical approaches including Sarah Ahmed's concept of affective economies and fear of difference, Margaret Archer's notions of the internal conversation and reflexivity as well as various established feminist theorists such as Simone de Beauvoir to analyse and explain issues arising from the study including misogyny. I also draw upon Pierre Bourdieu's concept of symbolic violence. My research is a case study of albinism in HE in Tanzania. Using qualitative methods I draw upon feminist methodological approaches, values and principles to explore albinism and explain what constrains and enables students with the condition to interact with HE opportunities. The data for this research were collected from 35 participants in Tanzania, namely: 14 students with albinism (involving current and graduate students with albinism); six teaching staff and five HE support staff members. Other participants included officials from four non-governmental organisations (NGOs), four government officials, one parent and one student reader/note-taker. I conducted 19 face-to-face semi-structured interviews with six current students with albinism, three teaching staff, four NGO officials and four government officials. Likewise, I conducted face-to-face semi-structured interviews with one parent and one student reader. I also conducted one Skype interview with a current student with albinism as well as three focus groups discussions with 14 participants. The first group was of seven graduates with albinism, the second involved three teaching staff and the third was of four HE support staff. I also used desk-based research methods, conducting telephone conversations with 52 statistics officers in order to investigate where students with albinism are located within HE in Tanzania. Looking at literature and my research questions, the data were then compared across different participants and universities to establish patterns and common themes among them. The findings from this research indicated that the systems of power that work to oppress people with albinism are multifaceted with structural, cultural and socio-economic conditions. Some key findings included how people with albinism were subjected to misogyny, myths and fear of the ‘other'. However, the 14 students with albinism in this study demonstrated a high level of agency, creativity, autonomy and motivation to improve their lives and thus overcome discriminatory social structures, oppression and harassment. They also illustrated their commitments to contribute usefully to society despite the constraints and limited support that they often encountered. Access to HE was seen as a major way to transform their identity by challenging deeply ingrained social prejudices, which often label people with albinism as having limited cognitive capacity. The implications of this research are that government commitment will be required in order to allocate sufficient funds to promote awareness of, and create change about, albinism and the elimination of household poverty, particularly that of female-headed households (FHH), as well as to adequately finance HE institutions so they can put in place support services and arrangements for students with albinism.

Submitted by Gabriela Lopes (gmachadolopesufpel@gmail.com) on 2016-09-27T14:35:10Z No. of bitstreams: 2 license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Dissertação_Francieli_Cima.pdf: 1564850 bytes, checksum: 1875a0cdb8f46c6a1880c860e06bdbe3 (MD5) / Approved for entry into archive by Aline Batista (alinehb.ufpel@gmail.com) on 2016-09-28T17:12:22Z (GMT) No. of bitstreams: 2 Dissertação_Francieli_Cima.pdf: 1564850 bytes, checksum: 1875a0cdb8f46c6a1880c860e06bdbe3 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Made available in DSpace on 2016-09-28T17:12:22Z (GMT). No. of bitstreams: 2 Dissertação_Francieli_Cima.pdf: 1564850 bytes, checksum: 1875a0cdb8f46c6a1880c860e06bdbe3 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2014-03-31 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / No Brasil, a cultura do trigo ocupa lugar de destaque nos sistemas de produção da Região Sul, representando uma opção muito importante como um cereal de inverno. O melhoramento genético das culturas autógamas tem contado com vários métodos para produzir cultivares mais recentes e superiores com características melhoradas. Um exemplo muito bem sucedido tem sido o método de produção de plantas duplohaploides usado para acelerar o desenvolvimento de uma nova cultivar. Em trigo, a cultura de micrósporos isolados tem sido usada para a obtenção de plantas duplohaploides. No entanto, esta técnica tem sido caracterizada como altamente genótipo-dependente e de produzir altas taxas de plantas albinas. Assim, o objetivo deste trabalho foi otimizar um protocolo através da cultura in vitro de micrósporos isolados utilizando-se genótipo de trigo com alta produção de plantas albinas. Para este estudo, plantas F1 oriundas do cruzamento de trigo entre Toropi x BRS 194 foram usadas como doadoras de micrósporos. Foram realizados três experimentos. No primeiro experimento, anteras foram removidas das espiguetas e tratadas em três soluções de pré-tratamentos à 4°C: a) manitol (62 g L-1) + 15 µM de sulfato de cobre (CuSO4.5H20); b) manitol (62 g L-1) e c) 15 µM de sulfato de cobre. No segundo experimento, foram testadas as mesmas soluções de pré-tratamento do experimento anterior, com a diferença de que neste experimento, espiguetas inteiras foram usadas para o pré-tratamento. No terceiro experimento, somente o pré- tratamento a frio foi aplicado nas espigas e houve uma modificação no meio de indução, quando foram testados nove tratamentos: controle (meio de indução padrão); sulfato de cobre (2,0 µM); prolina (10 mM); glutationa (2,0 µM); cefotaxima (100 mg L-1); sulfato de cobre (4,0 µM); sulfato de cobre (2,0 µM) + prolina (10 mM); sulfato de cobre (2,0 µM) + glutationa (2,0 µM); sulfato de cobre (2,0 µM) + cefotaxima (100 mg L-1). Os resultados obtidos nos experimentos 1 e 2 mostrou que a solução de pré-tratamento contendo 15 µM de sulfato de cobre foi mais eficiente para desencadear a embriogênese dos micrósporos e regenerar plantas verdes em trigo. No terceiro experimento, o meio de indução suplementado com 100 mg L-1 de cefotaxima mostrou um aumento na formação de embriões e também na regeneração de plantas verdes. / In Brazil, the wheat crop occupies an outstanding place in the production systems of the Southern Region, representing a very important option as a winter cereal. Genetic improvement of self-fertilizing crops has relied on several methods to produce newer and superior cultivars with enhanced traits. A very successful example has been the use as double haploids as a method to accelerate the development of a new cultivar. In wheat, isolated microspore culture has been used to obtain doubled haploid plants. However, this technique has been characterized as highly genotype dependent and producing high rates of albino plants. Thus, the objective of this work was to optimize a protocol through the in vitro culture of isolated microspores utilizing a wheat genotype with high production of albino plants. For this study, F1 plants originated from the wheat cross between Toropi x BRS 194 were used as microspore donor plants. Three experiments were carried out. In the first experiment, anthers were treated in three pre-treatment solutions, at 4°C: a) mannitol (62 g L-1) + 15 µM copper sulphate (CuSO4.5H20); b) mannitol (62 g L-1) and c) 15 µM copper sulphate. In the second experiment, the same pre-treatment solutions of the previous experiment were tested, with the difference that in this experiment, whole spikelets were used for the pre-treatment. In the third experiment, only cold pre-treatment was applied to the spikes, and there was a modification in the induction medium, when nine treatments were tested: control (standard induction medium); copper sulphate (2,0 µM); proline (10 mM); glutathione (2,0 µM); cefotaxime (100 mg L-1); copper sulphate (4,0 µM); copper sulphate (2,0 µM) + proline (10 mM); copper sulphate (2,0 µM) + glutathione (2,0 µM); copper sulphate (2,0 µM) + cefotaxime (100 mg L-1). Results obtained in experiments 1 and 2 showed that the pre-treatment solution containing 15 µM of copper sulphate was more efficient to trigger the embryogenesis of microspores and regenerate green plants in wheat. In the third experiment, the induction medium, supplemented with 100 mg L-1 of cefotaxime showed an increase in the formation of embryos and also in the regeneration of green plants.

A research report submitted to the Faculty of Humanities, University of the Witwatersrand, Johannesburg, in partial fulfilment of the requirements for the degree of Master of Arts (Clinical Psychology), 2018 / The current research arose from a particular interest in the ways in which different subgroups of men form and navigate their male identities and their masculinities. The decision to focus on the experiences of men living with oculocutaneous albinism stemmed from two inter-related premises: firstly, there is a dearth of research around this particular minority group; and secondly, there has been a call for the life experiences of this particular population to receive greater attention and understanding. Four participants were interviewed using a semi-structured interview schedule. The transcribed data gathered from these interviews was subject to a computer-aided thematic analysis. The findings of the current research suggest that the experiences of being stigmatized due to oculocutaneous albinism were highly injurious to the participants and lead them to internalize a strong sense of shame. This in turn affected the ways in which the participants experienced themselves in the world and interacted with others relationally, including in relation to friendships and more intimate partnerships. All of the participants feared that their albinism would make them less desirable to prospective life partners and were concerned that close others might be stigmatized by association with them. Their experiences appeared to influence the participants’ positioning of themselves in relation to other men and were also implicated in the complex nature of their racial identity. Participants demonstrated a capacity to be reflective about their life experiences and about the responses of others towards them in respect of their condition. / XL2018

Notre travail s’est intéressé à l’albinisme oculocutané en étudiant ses aspects clinico- moléculaires. Malgré l’analyse approfondie des gènes connus d’albinisme oculocutané, 15 % des patients restent sans mutation identifiée indiquant que les mutations sont situées dans des régions géniques non analysées par les techniques classiques de diagnostic moléculaire, ou qu’il existe d’autres gènes d’albinisme oculocutané. Nous avons établi une base de données clinico- biologiques décrivant les caractéristiques de plus de 400 patients analysés. Des outils de diagnostic moléculaire ont été développés à la recherche de mutations situées dans les introns et les régions régulatrices et de réarrangements géniques. Différentes stratégies ont également été utilisées pour rechercher des gènes candidats. La puce à façon a permis l’identification de grands réarrangements dans les gènes TYR, OCA2 et SLC45A2 et un réarrangement complexe du gène OCA2 chez 2 patients non apparentés. L'analyse de gènes candidats nous a permis d'identifier, chez 5 patients non apparentés présentant un albinisme oculocutané non syndromique, des mutations dans le gène SLC24A5, très récemment associé à l’AOC6. Le séquençage d’exome de 6 patients a mis en évidence des gènes candidats pour lesquels des analyses complémentaires sont poursuivies afin de confirmer leur implication dans la pathogenèse de l’AOC.Les résultats de ce travail permettent de redéfinir les aspects cliniques et moléculaires de l’AOC, d’identifier de nouveaux mécanismes moléculaires à l’origine de l’AOC ainsi que des gènes candidats dont la fonction dans le développement pigmentaire reste à élucider. L’identification de nouveaux gènes impliqués dans l’AOC pourrait permettre de mieux comprendre et de mieux prendre en charge les patients avec un AOC. / Our work focused on oculocutaneous albinism (OCA) by studying its clinical and molecular aspects. Despite a thorough analysis of the known genes involved in oculocutaneous albinism, 15% of patients remain without diagnostic at the molecular level indicating that mutations are located in unexplored regions and are undetected by standard techniques or that other genes are involved in albinism. We established a clinicomolecular database describing more than 400 patients and developped molecular tools in order to improve molecular diagnostic including a custom high resolution array-CGH dedicated to the four OCA genes (TYR, OCA2, TYRP1 and SLC45A2). We also used different strategies to identify new genes. Array-CGH allows us to detect large deletion in TYR, OCA2 and SLC45A2 and a complexe rearrangement in OCA2 in 2 unrelated patients. We identified, in 5 patients presenting with a non syndromic OCA, mutations in SLC24A5, recently associated with OCA6. Exome sequencing of 6 different patients allows us to identify candidate genes, for which further studies are required to confirm their involvement in OCA pathogenesis. The results of this work allowed us to delineate clinical and genetics aspects of more than 400 OCA patients and to identify new molecular mechanisms leading to OCA and candidates genes for which exact nature of their functions has to be understood. Giving the complexity of pigmentary system development and its regulation, identification of new genes leading to OCA could help to better understand OCA and take care of patients

O albinismo é um conjunto de alterações fenotípicas caracterizadas pela incapacidade de produzir melanina, fazendo com que a pigmentação de alguns órgãos seja reduzida ou ausente. Discutem-se quais efeitos esta redução ou ausência de pigmentação, na retina, poderia ter sobre a capacidade visual do indivíduo. A visão de cores apresenta um papel muito importante para a sobrevivência e desenvolvimento de primatas. A capacidade de discriminar visualmente o alvo de um fundo apenas pela diferença de matiz pode ser o diferencial tanto para a busca de alimentos, como para a fuga de predadores. Estudos sobre a visão de cores auxiliam a fazer inferências sobre suas bases biológicas e utilidade funcional. Pretendeu-se com esse estudo elucidar a discriminação de cores de um indivíduo albino de Sapajus sp, por meio de uma avaliação psicofísica utilizando-se de uma versão modificada do teste computadorizado Cambridge Colour Test (CCT), e uma análise genética de DNA, para identificar os genes que codificam as opsinas. Os arranjos genótipo/fenótipo inferidos do indivíduo a partir das elipses foram comparados à composição dos genes que codificam opsina, obtida por análise independente de DNA. Buscou-se, assim, identificar possíveis prejuízos à visão de cores causados pelo albinismo, em relação a Sapajus normais. Apesar dos vários problemas decorrentes do albinismo, o sujeito experimental aprendeu a tarefa com sucesso e apresentou, nos testes, limiares de discriminação de cores característicos de dicromacia do tipo deuterânope com valores dentro dos esperados para o gênero Sapajus. Os resultados comportamentais foram condizentes com o fenótipo inferido a partir da análise genética / São Paulo Albinism is a set of phenotypic traits, characterized by the inability to produce melanin, that way the pigmentation of some organs are either reduced or absent. There is no consent on what effects this lower or none pigmentation on retina could lead on subject vision. The color vision represents a major role on primates survival and development. The capacity of visually discriminate targets only by hue differences from the background can be used either to search for food or to avoid predators. Studies on color vision help to make inference on their biological bases and functional utility. This study aimed to elucidate the color vision discrimination of an albino subject of Sapajus sp, through a psychophysical evaluation using a modified version of Cambridge Colour Test (CCT) and a genetic analyses of DNA in order to identify genes that codify the opsin. The correlation between genotype and phenotype were inferred by comparison between discrimination ellipses and genetic composition of genes that code opsin. Thus seeking to identify possible color vision losses caused by albinism comparing those analyses with healthy Sapajus. Despite many problems associated to albinism, the test subject successfully learn the task and his test showed color discrimination thresholds of a deuteranope dichromacy with values within the expected to subjects of Sapajus genera. Those behavioral results where consistent with the phenotype predicted by the genetic analyses