Thesis (M.S.)--Mississippi State University. in Veterinary Medical Science in the Department of Basic Sciences. / Title from title screen. Includes bibliographical references.

Motivation: Hypertension is a fast growing health risk, leading to increased incidences of cardiovascular dysfunction and mortality. However, the prevalence of hypertension is higher in some ethnic populations than others. Several South African studies have found that the African population is more susceptible to the development of hypertension, compared to the Caucasian population. Cardiovascular dysfunction is often accompanied by elevated levels of uric acid (UA) and plasminogen activator inhibitor-I (PAI-1) and both are factors associated with the metabolic syndrome. A lack of data regarding the association of UA and PAL1 with cardiovascular dysfunction in a South African context, serves as a motivation for conducting this study. Objective: To determine the association of UA and PAI-1 with cardiovascular dysfunction in African and Caucasian women from South Africa. Methodology: The manuscript presented in Chapter 2 made use of the data obtained in the POWIRS (Profiles of Obese Women with the Insulin Resistance Syndrome) study. A group of 102 African women and 115 Caucasian women, living in the North West Province of South Africa, were recruited according to their body mass indexes. The groups were divided into lean, overweight and obese according to their body mass index. Anthropometric and cardiovascular measurements were taken and determinations were done of their blood lipid profiles, UA. PAI-1, fasting insulin and glucose levels, HOMA-IR (homeostasis model assessment-insulin resistance) and leptin levels. The subject's total dietary protein intake was determined by means of a dietary questionnaire. Comparisons between the groups were done using an independent t-test as well as a multiple analysis of covariance (MANCOVA) whilst adjusting for certain variables. Each ethnic group was divided into UA and PAI-1 tertiles, for comparison between the 1" and 3' tertiles. Correlation ~0efIi~ientS were determined to show any associations between UA and PAI-1 with cardiovascular variables as well as variables associated with the metabolic syndrome. Forward stepwise multiple regression analyses were performed using UA and PAL1 respectively as dependent variables. The study was approved by the Ethics committee of the North-West University and all the subjects gave informed consent in writing. The reader is referred to the experimental procedure section in Chapter 2 for a more detailed description of the subjects, study design and analytical procedures used in this dissertation. Results and conclusion: Results from the POWIRS-study showed that despite the African women's higher blood pressure, they had significantly lower levels of UA and PAI-I compared to the Caucasian women. Although the Caucasian women had significantly higher circulating levels of UA and PAI-1, they showed no sign of cardiovascular dysfunction. The detrimental effects might, however, become more noticeable with an increase in age. From this study it is concluded that UA and PAL1 is not associated with the increased blood pressure in young African women. / Thesis (M.Sc. (Physiology))--North-West University, Potchefstroom Campus, 2006.

Motivation: Hypertension is a fast growing health risk, leading to increased incidences of cardiovascular dysfunction and mortality. However, the prevalence of hypertension is higher in some ethnic populations than others. Several South African studies have found that the African population is more susceptible to the development of hypertension, compared to the Caucasian population. Cardiovascular dysfunction is often accompanied by elevated levels of uric acid (UA) and plasminogen activator inhibitor-I (PAI-1) and both are factors associated with the metabolic syndrome. A lack of data regarding the association of UA and PAL1 with cardiovascular dysfunction in a South African context, serves as a motivation for conducting this study. Objective: To determine the association of UA and PAI-1 with cardiovascular dysfunction in African and Caucasian women from South Africa. Methodology: The manuscript presented in Chapter 2 made use of the data obtained in the POWIRS (Profiles of Obese Women with the Insulin Resistance Syndrome) study. A group of 102 African women and 115 Caucasian women, living in the North West Province of South Africa, were recruited according to their body mass indexes. The groups were divided into lean, overweight and obese according to their body mass index. Anthropometric and cardiovascular measurements were taken and determinations were done of their blood lipid profiles, UA. PAI-1, fasting insulin and glucose levels, HOMA-IR (homeostasis model assessment-insulin resistance) and leptin levels. The subject's total dietary protein intake was determined by means of a dietary questionnaire. Comparisons between the groups were done using an independent t-test as well as a multiple analysis of covariance (MANCOVA) whilst adjusting for certain variables. Each ethnic group was divided into UA and PAI-1 tertiles, for comparison between the 1" and 3' tertiles. Correlation ~0efIi~ientS were determined to show any associations between UA and PAI-1 with cardiovascular variables as well as variables associated with the metabolic syndrome. Forward stepwise multiple regression analyses were performed using UA and PAL1 respectively as dependent variables. The study was approved by the Ethics committee of the North-West University and all the subjects gave informed consent in writing. The reader is referred to the experimental procedure section in Chapter 2 for a more detailed description of the subjects, study design and analytical procedures used in this dissertation. Results and conclusion: Results from the POWIRS-study showed that despite the African women's higher blood pressure, they had significantly lower levels of UA and PAI-I compared to the Caucasian women. Although the Caucasian women had significantly higher circulating levels of UA and PAI-1, they showed no sign of cardiovascular dysfunction. The detrimental effects might, however, become more noticeable with an increase in age. From this study it is concluded that UA and PAL1 is not associated with the increased blood pressure in young African women. / Thesis (M.Sc. (Physiology))--North-West University, Potchefstroom Campus, 2006.

The aim of this study was to explore, from different perspectives, whether obesity related variables are associated with facets of psychological well-being, with a vision to future enhancement of health and the quality of life of people in the African context. This study was undertaken from the perspective of positive psychology and focused on the metabolic syndrome and obesity as biological facets. This research was conducted as part of the multidisciplinary POWIRS (Profiles of Obese Women with Insulin Resistance Syndrome) project. African (n=102) and Caucasian (1 15) women took part in a cross-sectional design. The thesis consists of 3 articles: I) Childhood relationships and bio-psycho-.gocia1 well-being in African women, 2) Psychological well-being and rhe metabolic syndrome in African and Caucasian women, and 3) Psychological wellbeing and (the absence of obesity in African and Caucasian women. In this study psychological well-being was conceptualized and operationalized by means of the General Health Questionnaire (GHQ); Sense of Coherence Scale (SOC-29); Affectometer 2 (AFM) (short form); Fortitude Questionnaire (FORQ); Cognitive Appraisa1 Questionnaire (CAQ); Psychological Well-being Scales (SPWB); Quality of Childhood Relationship Questionnaire (QCR); Satisfaction with Life Scale (SWLS) and the Jarel Spiritual Well-Being Scale (SWS-H). These scales were chosen to include hedonic as well as eudaimonic psychological well-being facets, but also an index of psychological symptoms. As far as possible, scales with acceptable psychometric properties as described in international as well as South African context were selected. The first article focused on whether African women with a recalled higher level of quality of childhood relationships mould differ significantly with regard to biological, psychological and social well-being from women with a recalled lower level of quality of childhood relationships. Body mass index (BMI) was used as objective measure of obesity to operationalize physical health. Findings were that the recalled quality of childhood relationships is linked with obesity and psycho-social well-being in this group of African women. The second article focused on psychological well-being and (the absence of) the metabolic syndrome (MS). It explored the possible association between comprehensive psychological well-being and MS in different cultural contexts, and explored whether African and Caucasian women without MS markers and those with MS differ on specific indices of psychological well-being. The criteria of the NCEP ATPIII mere implemented to determine markers of MS, and the absence of markers of MS was used as measure of physical health. Findings were that an association is found in Caucasian women between comprehensive psychological well-being and the absence of the metabolic syndrome, but not in the case of African women. Caucasian women without metabolic syndrome markers had significantly higher levels of psycho-social wellbeing than uomen with the metabolic syndrome. but a less apparent pattern of differences emerged for African women. MS markers for African women should be further explored. The third article explored facets of psychological well-being as predictors for (the absence of) obesity (measured by BMI and WHR) in African and Caucasian women, and whether similar or different psychological well-being facets will emerge as predictors of obesity in different cultural contexts. Obesity was operationalized in terms of waist-hip-ratio (WHR) and body-mass-index (BMI). The finding was that clusters of psychological well-being facets are practical significant predictors of obesity (measured by BMI and WHR) and that these clusters differ in some respects for African and Caucasian women. It was concluded that, firstly. findings support holistic conceptualizations of health such as proposed by the WHO (1999). Secondly, it may be worthwhile to include facets of psychological well-being in already existing intervention programmes. The development of strengths that focus on life skills and behaviours related to positive interpersonal relationships, optimistic cognitive attributional styles, finding a sense of purpose and meaningfulness in life, may be particularly beneficial. Sensitivity for cultural contexts is indicated. In view of the increase in the occurrence of obesity in childhood and adolescence it is recommended that educational training programmes should be implemented early in life in order to facilitate protective strengths and to promote bio-psycho-social health in individuals and communities. Advocacy for more attention to psycho-social and protective factors in public health is needed. / Thesis (Ph.D. (Psychology))--North-West University, Potchefstroom Campus, 2006.

Objectives: The aim of this study was to determine the prevalence of MetS among different African populations using the new Joint Statement Criteria. Hereafter we aimed to determine whether waist or neck circumference is the best predictor of MetS risk after ethnic, gender and age-specific cut-points were developed. Lastly, we aimed to determine whether afore-mentioned cut-point can predict albumin:creatinine ratio as a marker of target organ damage. Methods: The study sample (N=409) comprised of urban African (men, N=101; women, N=99) and Caucasian (men, N=101; women, N=108) teachers from the Dr. Kenneth Kaunda Education district in the North-West Province, South Africa. Participants were aged between 25 and 65 years. Anthropometric measurements, albumin:creatinine ratio and other markers of the metabolic syndrome (MetS) (systolic and diastolic blood pressure [SBP and DBP], glucose, triglycerides [TG] and high density lipoprotein [HDL]) were determined. Results: Africans (65 and 63 % for men and women) and Caucasian men (73%) showed high prevalence of MetS; ROC analysis determined neck circumference (NC) cut-points of 39 and 35 cm for young and older African men, 32 and 35 cm for young and older African women, 40 and 41 cm for Caucasian men and 34 and 33 cm for Caucasian women. This NC cut-point can be used to determine metabolic syndrome risk in all groups, except in African women; ROC developed waist circumference (WC) cut-points were 91 cm for all African male groups, 84, 81 and 84 cm for young, older and total group of African women. Suggested WC cut-points for Caucasian men were 93 cm for the young group and 97 cm for older as well as total Caucasian male groups, while cut-points for Caucasian women were 87 cm, 79 cm and 84 cm for young, older and total Caucasian women. These WC cut-points were good measures of metabolic syndrome risk in all groups; neither cut-point of WC nor NC could increase the risk of albumin:creatinine ratio. Conclusion: African women as a group present with few MetS risk factors and glucose is associated with renal function risk in Africans; NC cut-points may be used as an additional anthropometric marker to predict the metabolic syndrome in a South African cohort, but not in African women; WC cutpoints demonstrated to be good predictors of the metabolic syndrome in the same South African cohort, especially among men; WC would seem to be the best measure of MetS risk in all African populations, although NC can also be used for this purpose in all African populations, except in African women. / Thesis (PhD (Human Movement Science))--North-West University, Potchefstroom Campus, 2012

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / A largura e a forma do arco dentário são importantes fatores para se determinar os objetivos e a estabilidade do tratamento ortodôntico. Este estudo visa determinar as diferenças morfológicas entre o arco dentário inferior de indivíduos Caucasianos Norte-Americanos (AM) e Caucasianos Brasileiros (BR), de acordo com a Classe de Angle e o gênero. A amostra foi constituída por 331 modelos de gesso pré-tratamento ortodôntico da arcada inferior, tendo sido obtida a partir de dois grupos: 160 Caucasianos Norte-Americanos (60 Classe I, 50 Classe II e 50 Classe III) e 171 Caucasianos Brasileiros (61 Classe I, 60 Classe II e 50 Classe III). As superfícies oclusais dos modelos de gesso foram fotocopiadas; a partir das imagens obtidas, foi identificado o ponto clínico do braquete para cada dente de acordo com a espessura do dente inferior referentes aos dados de Andrews. Baseado nestes pontos, foram realizadas medidas de dimensões do arco dentário com o uso de um paquímetro e verificada a forma do arco com templates ortodônticos. Os dados referentes às dimensões do arco foram avaliados estatisticamente através da análise de Kruskal-Wallis e para se avaliar a diferença na distribuição de freqüência de forma de arco foi utilizado o teste Qui-quadrado. Os resultados mostraram que existem diferenças significativas nas dimensões do arco dentário entre AM e BR. O grupo AM apresentou uma menor largura intercaninos que o grupo BR (p<0,05), exceto para o subgrupo feminino Classe I. A largura intermolares também foi menor no grupo AM (p<0,05), mas não foram encontradas diferenças significativas nos subgrupos de Classe III. Os valores médios de profundidade de arco na região de caninos e de molares foram menores para o grupo BR, porém apenas significativas para o subgrupo feminino Classe I (p<0,05). Quando comparada a forma de arco houve diferença na distribuição de freqüência entre os grupos AM e BR, entretanto pelo tamanho da amostra e por serem dados nominais as diferenças não foram estatisticamente significativas. Verificou-se que para o grupo AM a forma de arco mais prevalente foi a parabólica (44%), seguida pela ovóide (38%) e quadrática (18%). Para o grupo BR a forma prevalente foi a ovóide (43%), seguida pela parabólica (29%) e quadrática (28%). Para o subgrupo de Classe II houve uma maior freqüência da forma parabólica nos grupos AM e BR masculino; para o subgrupo de Classe III houve uma maior freqüência da forma quadrática para os grupos AM e BR feminino. Conclui-se que existem diferenças na forma e dimensão do arco dentário inferior entre os grupos AM e BR e de acordo com a Classificação de Angle. Clinicamente parece ser favorável a disponibilidade de fios ortodônticos com diversos tipos de arcos pré-formados de acordo com o grupo étnico e o tipo de maloclusão. / The purpose of this study was to evaluate the morphologic differences between North American Caucasian (AM) and Brazilian Caucasian (BR) mandibular dental arches. The sample consisted of 331 pretreatment mandibular orthodontic plaster models divided in two groups; 160 of North American Caucasians (60 Class I, 50 Class II and 50 Class III) and 171 of Brazilians (61 Class I, 60 Class II and 50 Class III). The occlusal surfaces of the mandibular models were photocopied and the clinical bracket point for each tooth was identified. Templates were overlaid to select the arch form; additionally 4 linear and 2 proportional measurements were taken. The results showed significantly differences in arch dimension between the two ethnic groups. The AM group showed significantly smaller intercanine width (p<0,05), excepting for the Class I aches in the female group. In addition, the AM group also showed a significantly smaller intermolar width (p<0,05); no differences were found in the Class III malocclusion group though. The BR group showed smaller canine and molar depths, but the differences were significantly smaller only in the Class I female group (p<0,05). The comparison of arch forms between AM and BR revealed no statistically significant difference due to the insufficient sample size for nominal data. Despite that, differences in the frequency of distributions of the three arch forms were found. The tapered arch forms were more common in the AM group (44%), followed by ovoid (38%) and square (18%). The most frequent arch forms seen were the ovoid in the BR group (43%), followed by tapered (29%) and squared (28%). Differences among Angle classifications were observed in arch form; the Class II group exhibited the higher frequency of tapered arch forms and the Class III the higher frequency of squared arch form. Brazilian arch forms were more ovoid and the Caucasian arch forms were more tapered. Brazilian arches were wider than Caucasian arches. The arch form had a tendency to be more ovoid or tapered in Class I group, more tapered in Class II group, and more ovoid or square in Class III group. The arches had a tendency to be wider in Class III group and narrower in Class II group. The results suggest that it is necessary to have specific arch forms available according to the Angle Classification and ethnic group. Significant differences exist among the AM and BR mandibular arch form and dimensions. These differences are also observed between Angle classifications. Clinically, it seems reasonable to have different preformed arch wires available according to the ethnic group and type of malocclusion.

abstract: In the U.S., breast cancer (BC) incidences among African American (AA) and CA (CA) women are similar, yet AA women have a significantly higher mortality rate. In addition, AA women often present with tumors at a younger age, with a higher tumor grade/stage and are more likely to be diagnosed with the highly aggressive triple-negative breast cancer (TNBC) subtype. Even within the TNBC subtype, AA women have a worse clinical outcome compared to CA. Although multiple socio-economic and lifestyle factors may contribute to these observed health disparities, it is essential that the underlying biological differences between CA and AA TNBC are identified. In this study, gene expression profiling was performed on archived FFPE samples, obtained from CA and AA women diagnosed with early stage TNBC. Initial analysis revealed a pattern of differential expression in the AA cohort compared to CA. Further molecular characterization results showed that the AA cohort segregated into 3-TNBC molecular subtypes; Basal-like (BL2), Immunomodulatory (IM) and Mesenchymal (M). Gene expression analyses resulted in 190 differentially expressed genes between the AA and CA cohorts. Pathway enrichment analysis demonstrated that differentially expressed genes were over-represented in cytoskeletal remodeling, cell adhesion, tight junctions, and immune response in the AA TNBC -cohort. Furthermore, genes in the Wnt/β-catenin pathway were over-expressed. These results were validated using RT-qPCR on an independent cohort of FFPE samples from AA and CA women with early stage TNBC, and identified Caveolin-1 (CAV1) as being significantly expressed in the AA-TNBC cohort. Furthermore, CAV1 was shown to be highly expressed in a cell line panel of TNBC, in particular, those of the mesenchymal and basal-like molecular subtype. Finally, silencing of CAV1 expression by siRNA resulted in a significant decrease in proliferation in each of the TNBC cell lines. These observations suggest that CAV1 expression may contribute to the more aggressive phenotype observed in AA women diagnosed with TNBC. / Dissertation/Thesis / Doctoral Dissertation Molecular and Cellular Biology 2015

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / A largura e a forma do arco dentário são importantes fatores para se determinar os objetivos e a estabilidade do tratamento ortodôntico. Este estudo visa determinar as diferenças morfológicas entre o arco dentário inferior de indivíduos Caucasianos Norte-Americanos (AM) e Caucasianos Brasileiros (BR), de acordo com a Classe de Angle e o gênero. A amostra foi constituída por 331 modelos de gesso pré-tratamento ortodôntico da arcada inferior, tendo sido obtida a partir de dois grupos: 160 Caucasianos Norte-Americanos (60 Classe I, 50 Classe II e 50 Classe III) e 171 Caucasianos Brasileiros (61 Classe I, 60 Classe II e 50 Classe III). As superfícies oclusais dos modelos de gesso foram fotocopiadas; a partir das imagens obtidas, foi identificado o ponto clínico do braquete para cada dente de acordo com a espessura do dente inferior referentes aos dados de Andrews. Baseado nestes pontos, foram realizadas medidas de dimensões do arco dentário com o uso de um paquímetro e verificada a forma do arco com templates ortodônticos. Os dados referentes às dimensões do arco foram avaliados estatisticamente através da análise de Kruskal-Wallis e para se avaliar a diferença na distribuição de freqüência de forma de arco foi utilizado o teste Qui-quadrado. Os resultados mostraram que existem diferenças significativas nas dimensões do arco dentário entre AM e BR. O grupo AM apresentou uma menor largura intercaninos que o grupo BR (p<0,05), exceto para o subgrupo feminino Classe I. A largura intermolares também foi menor no grupo AM (p<0,05), mas não foram encontradas diferenças significativas nos subgrupos de Classe III. Os valores médios de profundidade de arco na região de caninos e de molares foram menores para o grupo BR, porém apenas significativas para o subgrupo feminino Classe I (p<0,05). Quando comparada a forma de arco houve diferença na distribuição de freqüência entre os grupos AM e BR, entretanto pelo tamanho da amostra e por serem dados nominais as diferenças não foram estatisticamente significativas. Verificou-se que para o grupo AM a forma de arco mais prevalente foi a parabólica (44%), seguida pela ovóide (38%) e quadrática (18%). Para o grupo BR a forma prevalente foi a ovóide (43%), seguida pela parabólica (29%) e quadrática (28%). Para o subgrupo de Classe II houve uma maior freqüência da forma parabólica nos grupos AM e BR masculino; para o subgrupo de Classe III houve uma maior freqüência da forma quadrática para os grupos AM e BR feminino. Conclui-se que existem diferenças na forma e dimensão do arco dentário inferior entre os grupos AM e BR e de acordo com a Classificação de Angle. Clinicamente parece ser favorável a disponibilidade de fios ortodônticos com diversos tipos de arcos pré-formados de acordo com o grupo étnico e o tipo de maloclusão. / The purpose of this study was to evaluate the morphologic differences between North American Caucasian (AM) and Brazilian Caucasian (BR) mandibular dental arches. The sample consisted of 331 pretreatment mandibular orthodontic plaster models divided in two groups; 160 of North American Caucasians (60 Class I, 50 Class II and 50 Class III) and 171 of Brazilians (61 Class I, 60 Class II and 50 Class III). The occlusal surfaces of the mandibular models were photocopied and the clinical bracket point for each tooth was identified. Templates were overlaid to select the arch form; additionally 4 linear and 2 proportional measurements were taken. The results showed significantly differences in arch dimension between the two ethnic groups. The AM group showed significantly smaller intercanine width (p<0,05), excepting for the Class I aches in the female group. In addition, the AM group also showed a significantly smaller intermolar width (p<0,05); no differences were found in the Class III malocclusion group though. The BR group showed smaller canine and molar depths, but the differences were significantly smaller only in the Class I female group (p<0,05). The comparison of arch forms between AM and BR revealed no statistically significant difference due to the insufficient sample size for nominal data. Despite that, differences in the frequency of distributions of the three arch forms were found. The tapered arch forms were more common in the AM group (44%), followed by ovoid (38%) and square (18%). The most frequent arch forms seen were the ovoid in the BR group (43%), followed by tapered (29%) and squared (28%). Differences among Angle classifications were observed in arch form; the Class II group exhibited the higher frequency of tapered arch forms and the Class III the higher frequency of squared arch form. Brazilian arch forms were more ovoid and the Caucasian arch forms were more tapered. Brazilian arches were wider than Caucasian arches. The arch form had a tendency to be more ovoid or tapered in Class I group, more tapered in Class II group, and more ovoid or square in Class III group. The arches had a tendency to be wider in Class III group and narrower in Class II group. The results suggest that it is necessary to have specific arch forms available according to the Angle Classification and ethnic group. Significant differences exist among the AM and BR mandibular arch form and dimensions. These differences are also observed between Angle classifications. Clinically, it seems reasonable to have different preformed arch wires available according to the ethnic group and type of malocclusion.

As the global marketplace becomes more integrated and consumer specialists develop an international focus, developing useful scales to profile consumer decision-making styles in other cultures becomes important. Comparing the decision-making styles of consumers from different countries would thus contribute to the understanding of the effect of the marketing environment as well as of the cultural factors on consumer decision-making styles. It would also be significant to determine if the decision-making styles of foreign consumers differ from those of local ones. The influx of foreign students enrolled at South African Universities and Technikons has resulted in an increase in the number of consumers who have to make purchases connected to their daily lives within a different cultural environment. An understanding of students as consumers and their decisionmaking processes is important to marketers, particularly as students are recognised as a specialised market segment for a variety of goods and services. It would thus be significant to determine if the decision-making styles of foreign students differ from those of local students. This exploratory study investigates the decision-making styles among Chinese, Motswana and South African Caucasian students in a South African context, with a view of verifying the international applicability of the Consumer Styles Inventory (CSI) developed by Sproles and Kendall (1986). Only students with a Caucasian background were included in an attempt to avoid the influence of the different subcultures amongst South African students. It was found that Sproles and Kendall’s (1986) model did not fit the South African samples. It was furthermore found that differences exist among Motswana, Chinese and Caucasian students in consumer decision-making styles. The mean value for the “Novelty-fashion conscious” style was number one in the list of factors for Chinese and Motswana students and second for the Caucasian sample. “Price conscious” style, however, was number one for the Caucasian students.

Endometrial carcinoma, which is preceded by non-malignant hyperplasia, is the fifth most common cancer in women worldwide. Various genetic alterations appear to be early events in the pathogenesis of endometrial cancer. The PTEN/MMAC1/TEP1 gene is most commonly mutated in endometrioid adenocarcinoma. This gene, on chromosome 10q23, codes for a tumour suppressor protein which displays lipid and dual-specific protein phosphatase activity. It has been implicated in several signal transduction pathways and seems to be involved in the negative regulation of the PI3K-, the MAPK- and the FAK pathways. Studies have shown that caucasian Americans have a 4-fold higher frequency of PTEN mutations than African Americans. An association of PTEN mutation status with clinical outcome has been found, where patients with PTEN mutation-positive endometrial carcinoma had a better prognosis than those without PTEN mutations. It has been hypothesized that the molecular pathogenesis of endometrial carcinoma within Caucasians and Black African groups may be different. The present study aimed to investigate the PTEN gene in caucasians and Black South African women with endometrial hyperplasia and carcinoma. The correlation between the frequency and type of mutations and the pathological features of the cancers (stage and grade) were also assessed. Paraffin¬embedded tissue samples from patients with endometrial hyperplasia [n=10] and cancer [n=47] were analysed for PTEN mutations using exon-by-exon PCR-SSCP. Thirty-two mutations were detected of which 24 were pathogenic (23 in the adenocarcinomas, one in the hyperplasias). These included 10 frameshift, 7 nonsense, 4 missense and 3 splice site mutations. Pathogenic mutations were located throughout the gene with the highest frequency observed in exon 5 (39.1%; 9/23), followed by exons 1 and 8 (both 17.4%; 4/23). This data does not differ significantly from published findings (P>0.05; x2-test). Pathogenic mutations were present in 54% (20/37) of the endometrioid adenocarcinomas and 10% (1/10) of the hyperplasias. No mutations were detected in the serous papillary cancers and poorly differentiated carcinomas. Fifty-five % (6/11) of tumours from Caucasians and 52% (13/25) of the tumours from Black South Africans had genetic alterations. When comparing the African and caucasian groups there were no significant differences with regards to PTEN mutation frequency (P>0.05; x2-test). Mutations occurred in early and advanced stage endometrial carcinomas, although the majority of the samples were stage 1 endometrioid adenocarcinomas. In the present study no association between the frequency of PTEN mutations and the grade and stage of the endometrial cancer were found (P>0.05; x2-test). To validate these observations, however, a larger sample size representative of all the grades and stages of endometrial carcinoma needs to be analyzed. / Dissertation (MSc (Human Genetics))--University of Pretoria, 2006. / Genetics / unrestricted