Thesis (Ph.D.)--University of the Witwatersrand, Faculty of Health Sciences, 1985.

A thesis submitted to the Faculty of Medicine, University of the Witwatersrand, Johannesburg, in fulfilment of the requirements for the degree of Doctor of Philosophy. / Tyrosinase-positive oculocutaneous albinism (ty-pos OCA) is an autosomal recessive disorder of the melanin pigmentary system, characterised by generalised hypopigmentation, with the accumulation of phacomelanin pigments with increasing age. Southern African ty-pos OCA individuals occur with two distinct phenotypes? with or without ephelides. These phenotypes are apparently concordant within families, suggesting that there is more than one mutation at the ty-pos OCA locus. Elucidation of the basic defcct{s) in ty-pos OCA would be aided by a definitive localisation of the ty-pos OCA gene. Linkage studies have been carried out in 41 families, using 52 markers, including 15 random polymorphic serogenetic markers and 16 random polymorphic DNA markers, as well as markers from two candidae, genes, TYR and CAS2, and 19 polymorphic markers from 2 candidate chrome somal regions, on 11p and 15q. Pairwise 100 scores were calculated using the MLINK program of the LINKAGE package. A • significant lad score was initially obtained in linkage analysis between ty-pos OCA and two chromosome 15qll-q13 markers, in the Prader-Willi/Angelman Syndrome (PWS/AS) region. Linkage analysis with 13 other markers on chromosome 15, confirmed this localisation. A genetic linkage map of the proximal region of the long arm of chromosome 15 was constructed and shows that the most closely linked, flanking loci are the GABRB3 and D1SS24. Linkage analysis has also shown no cross-overs between the D15S12 locus and ty-pos OCA in southern African Negroids, suggesting that this locus is very close to, or part of, the disease locus. Caucasoid "ty-pos" OCA individuals are characterised by locus heterogeneity. Negroid ty-pos OCA families with and without ephelides were analysed separately at the tyrosinase and D15S12 (PIRlO-l) loci. The summated 100 scores at 9=0.01 were negative for the tyrosinase locus and positive for the D15S12 locus, suggesting no evidence for locus heterogeneity in this population. Allelic association was found between the polymorphic alleles detected at the D15S12 (PIRIO-l) locus and ephelus status, which suggests th~t there were multiple origins of the mutations at tne ty-pos OCA locus, The results of this thesis show that the ty-pos OCA gene is located on chromosome ISq 11~ q12. The gene is postulated to be the human homologue, P, of the mouse pinkeyed dilution gene, p; although definitive proof awaits the detection of mutations in this gene in individuals with ty-pos OCA. / Andrew Chakane 2018

Background: Albinism affects approximately 1 in 17,000 individuals globally with the highest prevalence in SubSaharan Africa with an estimation of 1 in 2000 - 5000 live births and 1 in 2000 live births in Malawi. The total number of people living with albinism in Malawi is estimated to be 7000 - 10,000 of the total population. Albinism is a stigmatised condition particularly in Africa and children are particularly vulnerable. Purpose of the study: to explore and describe the experiences, perceptions and understanding of mothers who have children living with albinism in Malawi. Study design: Qualitative descriptive study. Data collection Methods: The study, conducted between June and July 2018 in Malawi, included voluntary participation of ten mothers 18 years and older who had children with albinism. Purposive sampling was used to select participants who met the inclusion criteria to answer the research question and achieve the purpose of the study. Semi structured interviews were conducted in the participants’ preferred language Chichewa. Interviews were audio recorded and transcribed. Data translation of the questionnaire from English to Chichewa was done by three different translators from Malawi using forward and backward translation. The same process was followed for translation of the data from the interviews. Data analysis: Thematic analysis guided the process of data analysis. Trustworthiness of the data analysis process was maintained. To ensure transparency in reporting the study and to allow replication, reporting guidelines from the equator Network were used to evaluate the quality of the study. The quality of semistructured interviews was evaluated by using the Consolidated Criteria for Reporting Qualitative Studies (COREQ), a 32-item checklist. The Standards for Reporting Qualitative Research (SRQR) were used to evaluate the quality of the completed study. Findings: Four themes emerged from the data: 1) stigmatisation, discrimination and harm, 2) Mothers’ impression of a child with albinism, 3) Mothers’ awareness of albinism and 4) Psychosocial effects of albinism. Conclusion: A description of the experiences and perceptions of mothers of children living with albinism in Malawi and their understanding of the condition has revealed that these children are stigmatised and unsafe in their communities and that these mothers experienced this acutely even though they were overwhelmingly positive about accepting and loving their children and attempted to protect them from harm whatever the cost. Being the first such reported Malawian study it has filled a gap in the existing knowledge in this field and provides a foundation for further research specific to people living with albinism in Malawi

ABSTRACT In southern Africa, oculocutaneous albinism (OCA) is the most common autosomal recessive disease amongst black Africans, occurring with a prevalence of approximately 1 in 3 900 individuals. OCA occurs in southern African Caucasoids with a frequency that reflects the European origins of this population, approximately 1 in 20-30 000. OCA type 1 is caused by mutations in the tyrosinase gene on chromosome 11q. Tyrosinase mutations occur in the Caucasoid population but are extremely rare in black Africans. OCA type 2 is caused by mutations in the P gene on chromosome 15q. P gene mutations occur in both the black and Caucasoid populations. A sub-type of OCA2 seen in black individuals, brown OCA (BOCA), is also caused by mutations at the P gene locus. A mutation screen was undertaken to identify disease-causing mutations in a group of OCA subjects from Sub-Saharan Africa. A common P gene mutation had been identified in the black population, a 2.7 kb intragenic deletion, accounting for 78% of P gene mutations in this group. No common tyrosinase mutations have been identified to date, in any population. A cohort of OCA subjects from South Africa, Lesotho, Zambia and the Central African Republic (CAR) were available for study in our laboratory. All subjects were screened for the 2.7 kb deletion mutation. Subjects homozygous for this mutation were excluded from further study. Subjects where one or two mutations remained to be identified were included in a mutation screen (63 blacks and 9 Caucasoids). Depending on the clinical categorisation of the type of albinism, subjects were screened for P gene mutations only (black OCA2) or were screened for P gene mutations and tyrosinase mutations (BOCA, unclassified black OCA and unclassified Caucasoid OCA). All 72 subjects were screened for P gene mutations and ten putative pathogenic mutations were identified. In the group of black OCA2 patients, four mutations which are likely to be pathogenic were found: A334V, 614delA, 683insT and 727insG. Mutations were identified in four individuals with an unusual hypopigmentation phenotype: E678K was found in the homozygous state in an individual from the CAR. A second individual was found to be a compound heterozygote for the I370T and the L688F mutations. A third individual was found to be heterozygous for the I370T mutation. Three P gene mutations were found in the Caucasoid sample: IVS 14-2 (a→g), V350M and P743L. No further mutations were identified in the BOCA sample. The P gene screen comprised 72 subjects, but 40 were heterozygous for the 2.7 kb deletion, therefore (144 minus 40 alleles) 104 alleles remained to be identified. Identification of 12/104 alleles means that a further 11.5% of the unknown P gene mutations are now accounted for. Thirty three of the 72 subjects were included in a further mutation screen – at the tyrosinase locus. Four mutations were identified, all in the Caucasoid group. Compound heterozygosity was shown in two individuals, one carrying the mutations, E294K and A490D and the other, P431T and T373K. Following mutation analysis of the P gene, it was apparent that a proportion of mutations did not lie in the coding region of the gene and it was proposed that some of the remaning unidentified mutations might be found in the 5’control or promoter region of the gene. At that time, sequence data for the region upstream of the P gene was not known, and so an attempt was made to clone the 5’region of the P gene. Two approaches were adopted – a bacterial artificial chromosome (BAC) known to contain this region was subcloned; and secondly, an inverse PCR experiment was undertaken. Neither experiment was successful in generating P gene promoter sequence. Variation at the P locus was investigated in a second context. This region of chromosome 15q was implicated as a host susceptibility locus for the infectious disease, tuberculosis (TB). A case-control study was undertaken to compare the frequencies of five intragenic, polymorphic markers in the P gene: the 2.7 kb deletion, the R305W polymorphism and the microsatellite markers, D15S1533, D15S1536 and D15S1537, between a group of black South African TB patients from Gauteng and healthy community controls and between a group of mixed-ancestry (Coloured) TB patients and healthy controls from the Western Cape region. Presence or absence of the 2.7 kb deletion mutation does not appear to influence susceptibility to TB in either the black or Coloured population samples studied here. The W allele of the R305W polymorphism is significantly (p<0.05) more common in the black patient group than in the black control group, suggesting it may be in linkage disequilibrium with a disease susceptibility allele. Microsatellite marker analysis showed that, in the black population, allele 18 at the D15S1533 locus is significantly (p<0.05) associated with susceptibility to TB. In the Cape Coloured population, alleles 20 and 27 at the D15S1533 locus, allele 12 at the D15S1536 locus and allele 16 at the D15S1537 locus are over represented in the patient group suggesting they may be markers for increased susceptibility to TB. Further, in the Coloured population alleles 12, 13 and 15 at the D15S1537 locus showed significant (p<0.05) association with normal controls and may be in linkage disequilibrium with protective or resistance alleles. The results of this study support the proposal of a TB susceptibility locus on chromosome 15q. OCA-causing mutations have been identified, but many remain elusive. Further characterisation of this region will give us a better understanding of the biological consequences of variation both within and around the P locus.

A thesis submitted to the faculty of Arts, University of the Witwatersrand, in fulfillment of the requirements for the degree of Master of Film and Television studies / The aim of my research paper is to investigate the portrayal of albinos and albinism through visual culture in the South African context. The research examines the different forms of representation associated with this frequently marginalised group of people. It will also explore the relationship between these representations and real-lived concerns regarding albinism, conveyed through visual mediums of photography and film. 'Difference and otherness', 'stereotyping' 'abject', 'freakery' and 'fetishism' are the specific theories of representation that contribute centrally to the theorizing of this research. They are concepts that are frequently used to define and describe people living with albinism. In the pursuit to further understand albinism, a creative short film titled Beyond Our Complexion is a part of the complementary research component. (Abbreviation abstract) / Andrew Chakane 2021

Thesis (M. A. (Clinical Psychology)) --University of Limpopo, 2019 / Students with albinism experience social and academic challenges in society. These challenges are mainly influenced by their disability. Studies indicate that because they look different from most people they are treated differently and socially excluded and marginalised. Albino individual’ are also murdered in South Africa which is motivated by myths, beliefs and misconceptions in traditional African societies. The Social Model of Disability (SMD) underpinned the study as it is used to explore social experiences in different life contexts. The study used a qualitative approach with an exploratory research design. Purposive sampling was used to select the 18 participants. Thematic Content Analysis (TCA) was used to analyse data collected from the three focus groups. The findings of the study revealed that the social experiences of students with albinism are be difficult. They experience discrimination and stigmatisation from their peers and are often called derogatory names. It was also found that students with albinism have academic challenges because of their impaired vision, lecturers’ negative attitudes and insensitivity towards them. It was also found that the lack adequate assistive devices. Social experiences and academic challenges lead to a self-reported negative impact for instance, depression for these students. Ultimately, more awareness initiatives about the condition are required at the institution in order to improve the experiences of students with albinism.

Albinism is an inherited condition affecting at least 1 in 4000 people in Africa. It is thought to be more common among black Africans although it affects the entire human populations. In most African societies, albinism is regarded to be a disability and the social attitudes against albinos are characterised by lack of understanding, fear, and also of prejudice based on the appearance of albinism. There are various myths surrounding albinos such as that they are born as a punishment, that it is a curse to give birth to albinos and that albinos are immortal and that they are in fact spirits. This causes them to be seen as outcasts in society. Albinism is an inherited, congenital condition resulting in reduced synthesis of melanin pigment in the hair, skin and eyes. It leads to a host of lifelong physical health problems, in particular visual impairment and ultraviolet induced skin damage. In Africa such problems are exacerbated by exposure to harsh sunlight and reduced access to adequate health care, especially in rural areas. / Thesis (LLM (Human Rights and Democratisation in Africa)) -- University of Pretoria, 2011. / http://www.chr.up.ac.za/ / nf2012 / Centre for Human Rights / LLM

<p>The study investigates the social stratification of albinos in Tanzania. This is done by conducting a case study in Babati and decoding and generalising the attitudes in a national context. This is combined with a litterateur study which has been made analysing the attitudes towards albinos in the media. The study has used a critical as well as continental discourse analysis and decoded the data by using the theories of social constructivism and of stigma. Semi-structured interviews as well as a litterateur study was conducted.</p><p>The result proved that the albinos in Tanzania are stigmatised in the society and that people treat them based on myths and preconceptions. This stratification sometimes goes as far as to murders and mutations of albinos. The respondents as well as the media and government refer to the lack of education as the main cause behind the killings of albinos. A combination of the myths about albinos and the lack of education is the reasons that are accurate when analysing the reasons behind the ongoing murders.</p><p><strong> </strong></p><p><strong></strong> </p><p><strong> </strong></p>

The study investigates the social stratification of albinos in Tanzania. This is done by conducting a case study in Babati and decoding and generalising the attitudes in a national context. This is combined with a litterateur study which has been made analysing the attitudes towards albinos in the media. The study has used a critical as well as continental discourse analysis and decoded the data by using the theories of social constructivism and of stigma. Semi-structured interviews as well as a litterateur study was conducted. The result proved that the albinos in Tanzania are stigmatised in the society and that people treat them based on myths and preconceptions. This stratification sometimes goes as far as to murders and mutations of albinos. The respondents as well as the media and government refer to the lack of education as the main cause behind the killings of albinos. A combination of the myths about albinos and the lack of education is the reasons that are accurate when analysing the reasons behind the ongoing murders.

Thesis (Ph.D.) - University of Queensland, 2004. / Includes bibliography.