ABSTRACT The present study examined the distribution of six genetic variants (CYP17A1, CYP3A4, SRD5A2, KLK3, AR) in the androgen biosynthesis and metabolism pathway, in 14 sub-Saharan African populations. These polymorphisms have been implicated in several complex diseases, most notably prostate cancer. In order to elucidate the frequencies of these genetic variants, PCR-RFLP and STR based methodologies were employed. Consistent with previously reported results, the frequency distribution of the gene variants in the examined populations greatly coincided with prostate cancer incidence and geographic origin. Populations of African descent had the highest frequencies of the alleles that are postulated to increase risk to prostate cancer, whilst Asian populations had the lowest. Also, there were evident differences in the frequencies of these variants between populations of different continental origin particularly between African and Eurasian populations. The distribution of these genetic variants was further used to assess the spectrum of variation within Africa. The results were greatly aligned with those previously reported, providing further support to the origin and evolution of modern humans from Africa as well as other historic events.

>Magister Scientiae - MSc / As human beings we are curious about our origin and ancestry. A curiosity has led to an investigation of human evolution and expansion across the world by means of population genetics and phylo-genetics by evaluating a region in Southern Africa that is largely unknown. The objective of this study was to develop a quick, inexpensive and accurate hierarchical diagnostic screening system of the MtDNA phylogenetic tree, AI-SNPs in the mtDNA genome by using High Resolution Melting analysis to evaluate the population composition and ancestral haplogroups of Southern African populations in Limpopo. The admixture between the ‘Khoesan’ hunter-gatherers, herders and the Bantu speaking populations led to population growth and expansion in Limpopo. This has contributed to populations settling in Limpopo and has thus shaped the ancestral contemporary populations. No research on these individuals residing in Limpopo has been done before, thus an investigation of their ancestral origin was necessary. A total of 760 saliva samples were collected from individuals residing in Limpopo. Only 500 saliva samples were extracted by means of an optimized salting out technique. Five hundred extracted genomic samples were genotyped by means of a quick, inexpensive High-resolution melting analysis. Of the 500 samples, the genotyping results showed 95 individuals derived for the L3 haplogroup which gives a 19% ratio of individuals screened with Multiplex 1. Only 56 individuals were derived for the L1 haplogroup, which gives a percentage of 11%. A total of 249 individuals were derived for the L0 haplogroup, making up a 50% of the total individuals genotyped. Only 100 samples were derived for L0a, making up 20% of individuals screened with Multiplex 1. Of the 95 samples derived for the L3 haplogroup, the results showed 87 individuals to be ancestral for both M and N, making up 91.57% of individuals screened with Multiplex 2. http://etd.uwc.ac.za/. In population genetics using SNPs to infer population history and ancestral origin has become significant, this study allowed researchers to evaluate population groups by investigating their genetic markers and the application of the results allowed for downstream analyses. Finally, this study provides a quick and simple screening method for the selection of lineages that are of interest for further studies.

À l’holocène, le développement de l'agriculture par les populations humaines a modifié la morphologique du squelette humain. Dans ce cadre, plusieurs recherches se sont intéressées à la biomécanique des populations passées et modernes. Elles supposent qu’une activité physique répétée affecte la structure de l’os. Cette réponse osseuse est analysée par les propriétés géométriques de l’os qui permettent de reconstruire le comportement passé et présent des individus. La distribution osseuse en coupe a donc été étudiée sur les membres supérieurs et inférieurs de populations centrafricaines (du Cameroun et de la République Démocratique du Congo). La première hypothèse de ce mémoire est la suivante, les agriculteurs centrafricains, au mode de vie sédentaire, auraient les membres supérieurs plus robustes, tandis que les chasseurs-cueilleurs, plus mobiles, auraient les membres inférieurs plus robustes. La deuxième hypothèse suppose que les populations d’un milieu/terrain plus accidenté auraient les membres, supérieurs et/ou inférieurs, plus robustes. Nos résultats indiquent plutôt que les chasseurs-cueilleurs et les agriculteurs ont la même robustesse générale, bien que les peuples non sédentarisés soient plus robustes à la mi-diaphyse des radius droits. Contrairement à ce qui était attendu, les fémurs sont plus résistants (CSA) chez les agriculteurs, quand ils sont standardisés par la masse corporelle. En revanche, la moitié supérieure des tibias semblent être plus robuste chez les chasseurs-cueilleurs, quand les propriétés sont standardisées par la longueur de l’os. Les radius et les ulnas des chasseurs-cueilleurs vivant en forêt et en montagne ont la même robustesse. Enfin, seule la section distale des fibulas est plus résistante (CSA) chez les chasseurs-cueilleurs de la montagne que chez les chasseurs-cueilleurs de la forêt. En conclusion, ce mémoire ne nous permet pas d’affirmer que la transition vers l’agriculture s’accompagne d’une réduction de la mobilité et de la robustesse en Afrique centrale. En revanche, il montre que ces individus sont quand même influencés par leur stratégie de subsistance. Un plus grand échantillon est nécessaire pour mieux documenter la transition agricole et l’influence du milieu sur la structure osseuse en Afrique centrale. / The emergence of farming in the Holocene had major impacts on human populations. Many biomechanical studies have explored past and recent populations and have suggested that physical activity affects bone structure. Cross-sectional geometric properties of bones are measured to reconstruct past and recent human behavior. The present study analyses bone cross-sectional geometry of upper and lower limbs long bones of Central African populations (from Cameroon and the Democratic Republic of Congo). This study is based on the premise that agriculturalists, a sedentary group using their upper limbs for farming activities, have more robust upper limbs, while hunter-gatherers, that have an extremely mobile lifestyle, have more robust lower limbs. In addition, it is assumed that populations in more rugged environments/terrains would have more robust upper and/or lower limbs. Against expectation, the upper limbs of non-sedentary and sedentary populations have the same robusticity, although the right radius midshafts of hunter-gatherers are more robust. The femora are more robust in agriculturalists when the significant properties are normalized by body mass. In contrast, the upper part of the tibiae is more robust in hunter-gatherers when the properties are standardised by bone length. Against expectation, it was found that the upper limbs (radii and ulnae) of hunter-gatherers living in the lowland forests and in the mountains have the same robustness. Meanwhile, for the lower limbs, the fibula is more robust in people living in the mountains than those in the forest. In conclusion, these findings do not allow us to assert that the transition to agriculture is accompanied by a reduction in mobility and robusticity in the lower limbs or an increase in robusticity of the upper limb. Nonetheless, this study suggests that individuals are influenced by their economic strategy. However, a larger sample will be needed to better evaluate the role of the transition to agriculture on bone structure in Central Africa.