>Magister Scientiae - MSc / The objective of this study is to deduce paternal ancestry using ancestry informative single nucleotide polymorphisms (SNPs) by means of High Resolution Melting (HRM). This was completed by producing a multiplex system that was designed in a hierarchical manner according to the YSNP tree. This project mainly focused on African ancestry and was used to infer paternal ancestral lineages on the Johannesburg Coloured population. South Africa has a diverse population that has ancestral history from across the globe. The South African Coloured population is the most admixed population as it is derived from at least five different population groups: these being Khoisan, Bantu, Europeans, Indians and Southeast Asians. There have been studies done on the Western Cape/ Cape Town Coloured populations before but this study focused on the Johannesburg Coloured population.

Student Number : 0416521T - MSc(Med) dissertation - School of Pathology - Faculty of Health Sciences / Fetal alcohol spectrum disorder (FASD) encompasses a range of conditions induced by prenatal alcohol exposure. Fetal alcohol syndrome (FAS) is the most severe of these conditions. FAS is characterised by discriminating facial features along with growth deficiencies and central nervous system abnormalities. FASD is a growing concern in South Africa, particularly in the Northern and Western Cape Provinces. In the Northern Cape, astounding prevalence rates of 122 and 73.8 per 1000 school entry children have been established for the towns of De Aar and Upington respectively. Studies involving twin concordance research and animal models have indicated that there is a genetic influence contributing towards FAS susceptibility in individuals. FAS is considered a complex disease whereby both genetic and environmental factors interact in disease pathogenesis. For this reason a case-control study involving the investigation of appropriate candidate genes was conducted. The neuronal migration pathway in the developing brain is targeted by prenatal alcohol exposure. The astrotactin (ASTN) and reelin (RELN) genes were selected for investigation based on their fundamental role in neuronal migration. A FAS case-control study involving 45 cases and 112 controls was conducted on the Northern Cape Coloured population. Four single nucleotide polymorphisms (SNPs) including missense and non-coding variants were selected within ASTN and four missense SNPs were selected within RELN. The study aimed to determine the genotype and allele frequencies of the variants within the case and control groups and to assess whether any association between the gene variants and the predisposition to FAS existed. Statistical analyses indicated a significant genotypic association (P= 0.049) between RELN’s rs607755 marker; the C/T genotype was more likely to be found amongst controls thus inferring a possible protective effect against FAS. A logistic regression model supported the above association by indicating the C/T genotype as being independently significant (P= 0.026). The most limiting factor of this study was the small sample size and consequent lack of power to detect genes with minor effects. It would therefore be suggested that the study be repeated once a larger sample size has been established. A larger sample size would increase the chances of detecting true associations between genes of minor effect and FAS, thus minimising false-positive associations from arising.

Thesis (PhD (Biomedical Sciences. Molecular Biology and Human Genetics))--University of Stellenbosch, 2009. / Dissertation presented for the degree of Doctor of Philosophy in Medical Biochemistry at Stellenbosch University. / ENGLISH ABSTRACT: The infectious disease tuberculosis (TB) still represents a global threat due to its devastating effect on health and the subsequent high mortality rate. Previous studies have indicated that host genetic factors are implicated in host susceptibility to TB. Since TB is a complex disease, it can be assumed that susceptibility to M. tuberculosis has multiple genetic causative factors (as well as environmental causes). The current study focussed on a number of South African Coloured (SAC) individuals, some of whom were TB cases and others controls. Population substructure was tested in the admixed SAC population as it can be a strong confounding factor for association studies. Our results using the programme STRUCTURE indicated no population substructure in the SAC population. We further investigated the population structure of the SAC group using Affymetrix 500k SNP chip data which showed that the SAC population group has 4 major ancestral components: the Khoesan, European, African and Asian (Indian). A number of candidate polymorphisms in eight genes, previously indicated to play an important role in TB susceptibility, were tested in case-control associations studies. We found statistically significant associations between IFNGR1, IL-8, IL-1Ra and NRAMP1 polymorphisms and TB susceptibility in the SAC population. It has become increasingly evident that gene-gene interactions play a far more important part in an individual’s susceptibility to a complex disease than single polymorphisms would on their own. The importance of epistasis was clearly identifiable in this study with only four associations found between the individual variants and TB susceptibility, but eight instances of statistically significant gene-gene interactions. A combined data set consisting of 106 variants constructed from our database and also used for gene-gene interaction analysis yielded numerous statistically significant interactions. The interaction between the genotype of the human host and the bacterial strain genotype was also investigated and yielded interesting results. Owing to various polymorphisms in several cytokine genes, the protein levels of the main modulators of the immune system, cytokines and chemokines, are changed in several diseases such as infectious diseases and may affect susceptibility or resistance to TB. The functional polymorphisms or haplotype patterns in some of these cytokine genes might be vital for protective immune responses and may serve as biomarkers of protection or susceptibility to TB. The present study investigated 18 cytokines including pro-inflammatory, anti-inflammatory and chemokine factors in healthy (mantoux positive or negative) children using the Linco-plex immunoassay, and investigated potential interactions. The basic research will one day contribute to personalised genetics which may benefit infectious diseases such as TB. If individuals can be identified as potentially more vulnerable, they may require different vaccination strategies, a higher index of suspicion if exposed to TB, and prophylactic treatment. / AFRIKAANSE OPSOMMING: Die infektiewe siekte tuberkulose (TB) is steeds ‘n gevaar wat die hele wêreld bedreig weens die groot impak op gesondheid en die gevolglike hoë mortaliteit. Vorige studies het bevind dat die gasheer se genetiese faktore wel betrokke mag wees by die gasheer se vatbaarheid vir TB. Aangesien TB ‘n komplekse siekte is, kan dit aanvaar word dat vatbaarheid tot M. tuberculosis veelvuldige genetiese oorsaaklike faktore (sowel as omgewingsoorsake) het. Hierdie studie het gefokus op ‘n aantal Suid-Afrikaanse Kleurling (SAC) individue, waarvan sommige TB pasiënte en ander kontroles was. Die gemengde SAC populasie is getoets vir populasie-stratifikasie, aangesien stratifikasie ‘n sterk verwarrende invloed op pasiënt-kontrole studies kan hê. Ons resultate is verkry met behulp van die program STRUCTURE en het aangedui dat daar geen populasie sub-struktuur tussen die pasiënte en kontroles was nie. Ons het ook die populasiesamestelling van die SAC groep ondersoek met data verkrygbaar van die Affymetrix 500k enkel nukleotied polimorfisme mikroskyfie. Hierdie data het getoon dat die SAC populasie uit 4 hoof voorouerlike komponente bestaan naamlik die Khoesan, Europeërs, Afrikane en Asiate (Indiërs). ‘n Aantal kandidaat polimorfismes in agt gene, wat volgens vorige studies ‘n belangrike rol in TB vatbaarheid te speel, was in hierdie pasiënt-kontrole assosiasie studie bestudeer. Ons het statistiese beduidende verwantskappe tussen IFNGR1, IL-8, IL-1Ra en NRAMP1 polimorfismes en TB vatbaarheid in die SAC populasie gevind. Dit het al hoe meer duidelik geword dat geen-geen interaksies ‘n baie belangriker rol in ‘n individu se vatbaarheid vir ‘n komplekse siekte speel as enkel polimorfismes op hul eie. Die belang van epistase kon duidelik in hierdie studie geïdentifiseer word met slegs vier assosiasies wat tussen die individuele variante en TB vatbaarheid gevind is, in vergelyking met agt statisties beduidende geen-geen interaksies. ‘n Gekombineerde datastel wat uit ons databasis saamgestel is en wat 106 variante bevat is ook in ‘n aparte geen-geen interaksie analise gebruik, wat verskeie statisties beduidende interaksies getoon het. Die interaksie tussen die menslike gasheer genotipe en die bakteriese stam genotipe is ook in hierdie studie ondersoek en het interessante resultate opgelewer. Veranderde proteïen uitdrukking van die hoofmoduleerders van die immuunsisteem, sitokine en chemokine, kom voor in verskeie siektes soos infektiewe siektes weens verskillende polimorfismes in verskeie sitokien-gene. Sulke polimorfismes kan ook vatbaarheid vir of weerstandigheid teen TB beïnvloed. Die funksionele polimorfismes of haplotipe patrone in sommige van hierdie sitokien-gene mag noodsaaklik wees vir beskermende immuunresponse en mag ook as biomerkers vir beskerming teen of vatbaarheid vir TB dien. Hierdie studie het 18 sitokiene (insluitend pro-inflammatoriese-, anti-inflammatoriese- en chemokiene faktore), sowel as potensiële interaksies in gesonde (mantoux positiewe of negatiewe) kinders, ondersoek met behulp van die Linco-plex immuno-analise. Hierdie basiese navorsing sal eendag in die toekoms bydrae tot persoonlike genetiese analises wat tot voordeel kan wees vir infektiewe siektes soos TB. Indien individue as potensieël meer vatbaar vir TB geïdentifiseer kan word, kan sulke persone ander vaksineringstrategieë sowel as voorkomende behandeling vereis.

Thesis (MA)--Stellenbosch University, 2000. / ENGLISH ABSTRACT: In the early 1970s the National Party government under B.l Vorster experienced serious problems due to its policy on the Coloured population. Issues concerning the mutual relations between the population groups came strongly to the fore and the government's policy of separate development was subject to widespread and severe criticism. The period 1970-1974 is generally regarded as a time of change in South Afiica due to international and foreign pressures. South Afiica's position in the international community deteriorated dramatically and attitudes towards the Republic became increasingly hostile in the rest of the world. Furthermore, the Vorster government was confronted with two opposing schools of thought within the party itself, the so-called verligtes and the verkramptes. During the 1970s the political decision-making processes became entangled in a continuous struggle between the enlightened wing of the National Party, the so-called Cape Liberals, and a more conservative element, the verkramptes of the Transvaal. Race relations issues and the government's Coloured policy in particular were often the source of contention. In March 1973 Vorster appointed a Commission of Enquiry into Matters Relating to the Coloured Population Group. It was chaired by prof Erika Theron, formerly professor in Social Work at the University of Stellenbosch. The Theron Commission, as it became known generally, consisted of twenty members, six of whom were Coloureds. The Commission had to investigate the following: the progress made by the Coloured population group since 1960 in the social, economic and constitutional spheres as well as in the fields of local management, culture and sport; constraining factors in the various fields that could be identified as sources of contention; and any other related matters. The Theron Commission's report was tabled in parliament three years later on 18 June 1976. The Soweto riots that broke out two days before, however, forced news of the report out of the newspapers and caused its influence to be largely dissipated. The Theron report contained a number of recommendations that were directly in conflict with the government's apartheid policy and were hence not acceptable to the government. Consequently, the government - by way of an interim memorandum and a later white paper - rejected those recommendations that affected the core of its apartheid policy. The recommendations included the repeal of the Mixed Marriages Act (Act 55 of 1949) and Section 16 of the Immorality Act (Act 23 of 1957), two of the cornerstones of the policy of apartheid. Recommendation No. 178, in which the commission recommended direct representation for Coloureds at the various levels of government, was also rejected by the government. The potential influence of the Theron Commission's report to influence change was thus firmly nipped in the bud. The government's reaction caused bitter disappointment among the Coloured population as well as enlightened Whites and at the same time fuelled the conflict between the verligtes and the verkramptes. It also ensured intensified criticism from the opposition parties, especially the United Party. Yet the recommendations of the Theron Commision's report played a prominent role in the late 1970s and early 1980s, when the wheels of political change began to tum, and let to the tricameral parliamentary system of 1984 in which the Coloured population group was also represented. The Arbeidersparty of South Africa (APSA) - Ministers' Council, which was in control of the House of Representatives from 1984 to 1992, consistently endeavoured to negotiate a better social, economic and constitutional position for the Coloured population on the basis of the Theron Commission's report. / AFRIKAANSE OPSOMMING: In die vroeë sewentigerjare van die twintigste eeu het die Nasionale Party-regering, onder die bewind van BJ. Vorster, ernstige probleme ten opsigte van sy Kleurlingbeleid ondervind. Probleme rondom die bevolkingsverhoudingsvraagstuk het sterk op die voorgrond getree en die regering se beleid van afsonderlike ontwikkeling aan wydverspreide en hewige kritiek onderwerp. Die tydperk 1970-1974 word allerweë deur kritici beskou as 'n tydperk van verandering in Suid-Afrika vanweë toenemende binne- en buitelandse druk. Suid-Afrika se posisie binne die internasionale gemeenskap het drasties verswak en die buiteland het 'n vyandige gesindheid jeens die Republiek geopenbaar. Daarbenewens het die Vorster-regering gebuk gegaan onder twee botsende denkrigtings binne die partygeledere, die sogenaamde verligtes en die verkramptes. Die politieke besluitnemingsprosesse van die sewentigerjare was vasgevang tussen die verligte vleuel van die Nasionale Party, die sogenaamde Cape Liberals, en 'n meer konserwatiewe element, die verkramptes van Transvaal tussen wie daar 'n voortdurende stryd gewoed het. Die bevolkingsverhoudingsvraagstuk en die regering se Kleurlingbeleid was gereeld in die spervuur. In Maart 1973 het Vorster 'n Kommissie van Ondersoek na Aangeleenthede rakende die Kleurlingbevolkingsgroep aangestel. Die voorsitter was prof Erika Theron, voormalige hoogleraar in Maatskaplike Werk aan die Universiteit van Stellenbosch. Die Theronkommissie, soos dit algemeen bekend sou staan, is saamgestel uit twintig lede waaronder ses Kleurlinge. Die kommissie moes ondersoek instel na die volgende: die vordering van die Kleurlingbevolkingsgroep sedert 1960 op maatskaplike, ekonomiese en staatkundige gebied asook op die terreine van plaaslike bestuur, kultuur en sport; stremmende faktore op die verskillende terreine wat as knelpunte geïdentifiseer kon word; en enige verdere verwante sake. Die Theron-verslag is drie jaar later op 18 Junie 1976 in die parlement ter tafel gelê. Die Soweto-onluste wat twee dae tevore uitgebreek het, het egter die verslag van die persblaaie verdring en die invloed daarvan grootliks verlore laat gaan. Die Theron-verslag het aanbevelings bevat wat lynreg in stryd was met die apartheidsbeleid en wat nie vir die regering aanneemlik was nie. Gevolglik het die regering by wyse van 'n tussentydse memorandum en 'n latere witskrif daardie aanbevelings wat die kern van sy apartheidsbeleid aangetas het, afgekeur. Onder die aanbevelings was die herroeping van die Wet op die Verbod van Gemengde Huwelike (Wet No. 55 van 1949) en Artikel 16 van die Ontugwet (Wet No. 23 van 1957), twee van die hoekstene van die apartheidsbeleid. Aanbeveling No. 178, waarin die kommissie regstreekse verteenwoordiging vir die Kleurlinge op die verskillende owerheidsvlakke en in besluitnemingsprosesse aanbeveel het, is ook deur die regering afgekeur. Sodoende is die Theron-verslag se potensiële invloed tot verandering in die kiem gesmoor. Die regering se reaksie het bittere teleurstelling onder die Kleurlinge en die verligte blankes veroorsaak en terselfdertyd die fel stryd tussen die verligtes en die verkramptes aangewakker. Dit het ook toenemende kritiek komende van die opposisiepartye, veral die Verenigde Party, op die regering verseker. Die aanbevelings van die Theron-verslag het nietemin 'n prominente rol gespeel in die laat sewentigerjare en vroeë tagtigerjare toe die wiel van politieke veranderinge begin draai het en uitgeloop het op die Driekamerparlementstelsel van 1984 waarbinne die Kleurlinge ook verteenwoordig was. Die Arbeidersparty van Suid-Afrika (APSA) - Ministersraad wat sedert 1984 tot 1992 in beheer van die Raad van Verteenwoordigers binne die Driekamerparlement was, het hom voortdurend beywer om aan die hand van die Theronverslag, 'n beter sosiale, ekonomiese en staatkundige posisie vir die Kleurlinge te beding.

Magister Artium (Development Studies) - MA(DVS) / This study reflects the vital role the church should play in the social transformation of society. It undoubtedly has the potential to be a strategic organisation for social change. However, in the past it has failed to reach that potential. The hope for the future is that the church will embrace that potential and become active in the process of social transformation. The Church of the Province of Southern Africa (CPSA) has been the researcher's spiritual home for her entire life. During this time, and particularly over the past five years, she has sought to find her place in the church's inflexible, bureaucratic and patriarchal structure. While this study was in the final stages of being written, the CPSA took the historic decision to ordain women to the priesthood. Her personal struggle had been vindicated. However, more importantly, the church's decision attests to that organisation's potential for creative change. Thus this study is dedicated to the members of the CPSA in the Diocese of Cape Town, in the hope that they will embrace the challenge, both as individuals and as a community to become active agents of social change. The field research was conducted during the period March 1989 to March 1990 by the researcher herself, who was a paid employee of the Diocese of Cape Town at the time. Both the promoter and co-promoter of this thesis supervised this research. The results were first published in August 1990 by the Diocese of Cape Town in a report entitled, Voices of the Church: An Anglican perspective on welfare and development in the Diocese of Cape Town. Permission to use the research material in this study has been granted by the Most Reverend Desmond Mpilo Tutu, and is acknowledged with thanks. There are many people who during that period enabled the research to take place because of their willingness, enthusiasm and interest: the Most Reverend Desmond Tutu; Bishop Edward the liaison Bishop; members of Chapter and Diocesan Council; the support committee; the 130 people in the parishes who so willingly shared of themselves and their opinions, and in many instances opened their homes; and the clergy of the diocese, who participated wholeheartedly in the process.

This thesis is a biographical study of Erika Theron (1907-1990), an Afrikaner woman who played a significant role in many aspects of public life in South Africa in a critical time in the country‘s history. The study seeks to give recognition to her achievements, which have received scant attention in a historiography with a masculine bias. At the same time it examines her changing role from collaborator to critic of the apartheid system. Certain defining features of Theron‘s life have been highlighted. First, Theron grew up in a staunchly Afrikaner nationalist, service-oriented family which encouraged loyalty to her own people and civic responsibility. Second, she was unusual among Afrikaner women of her generation, in that she was highly educated, independent and ready to assume leadership roles. She became a pioneer in a number of fields, attaining high professional rank and holding important public offices – frequently as the first woman to do so in the country. The thesis focuses on five areas of Theron‘s public life. After returning from post-graduate studies abroad, she worked with Hendrik Verwoerd in the campaign to uplift poor whites, particularly the rehabilitation and re-integration of the Afrikaner poor. She thereafter commenced a long career as a social work academic, which included a number of milestones for her new discipline, for the profession of social work and for the advancement of women in academia. From the 1950s she served on the town council of Stellenbosch, including terms as deputy mayor and mayor. She played an important role in historic conservation but was also instrumental in the rigorous institution of apartheid structures in the town during the early days of National Party rule. In the early 1970s she served as chairman of the Commission of Enquiry into Coloured Affairs which influenced her personal views on the country‘s race policies. She became a public critic of many aspects of the apartheid system and vocal advocate for coloured rights. / History / D. Litt. et Phil. (History)

This thesis is a biographical study of Erika Theron (1907-1990), an Afrikaner woman who played a significant role in many aspects of public life in South Africa in a critical time in the country‘s history. The study seeks to give recognition to her achievements, which have received scant attention in a historiography with a masculine bias. At the same time it examines her changing role from collaborator to critic of the apartheid system. Certain defining features of Theron‘s life have been highlighted. First, Theron grew up in a staunchly Afrikaner nationalist, service-oriented family which encouraged loyalty to her own people and civic responsibility. Second, she was unusual among Afrikaner women of her generation, in that she was highly educated, independent and ready to assume leadership roles. She became a pioneer in a number of fields, attaining high professional rank and holding important public offices – frequently as the first woman to do so in the country. The thesis focuses on five areas of Theron‘s public life. After returning from post-graduate studies abroad, she worked with Hendrik Verwoerd in the campaign to uplift poor whites, particularly the rehabilitation and re-integration of the Afrikaner poor. She thereafter commenced a long career as a social work academic, which included a number of milestones for her new discipline, for the profession of social work and for the advancement of women in academia. From the 1950s she served on the town council of Stellenbosch, including terms as deputy mayor and mayor. She played an important role in historic conservation but was also instrumental in the rigorous institution of apartheid structures in the town during the early days of National Party rule. In the early 1970s she served as chairman of the Commission of Enquiry into Coloured Affairs which influenced her personal views on the country‘s race policies. She became a public critic of many aspects of the apartheid system and vocal advocate for coloured rights. / History / D. Litt. et Phil. (History)