Naidoo, Thijessen2015-04-222015-04-222015-04-22http://hdl.handle.net/10539/17506A dissertation submitted to the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, in fulfilment of the requirements for the degree of Master of Science in Medicine Johannesburg, 2014Evolution and historical events over the past 300 000 years have contributed in shaping the gene pool of sub-Saharan African populations. By examining patterns of Y chromosome variation, through the screening of single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs), the present study aimed to characterise the phylogeography of ancient African Y chromosome haplogroups found in populations across sub-Saharan Africa, as well as understand the genetic affinities of these populations. In order to screen the large number of the markers required, seven multiplex single base extension assays were developed. These were used to refine the resolution of Y chromosomes commonly found in Africa, but also included a few markers to delineate the common non-African Y chromosome haplogroups, following a hierarchical screening process. In total, 1667 males were screened, and these data were compiled together with comparative published data. The resultant SNP and STR dataset was used in illustrating, more specifically, the phylogeographies of haplogroups A and B. The wide geographic distribution of haplogroup A, together with its position at the root of the phylogeny and high diversity, support an early diversification of the haplogroup into its subclades, which subsequently spread across Africa. The distribution of major haplogroup B subclades, however, are possibly due to post-glacial migrations in the case of haplogroup B-M112, and recent population expansions, leading to the common presence of haplogroup B-M152 across sub-Saharan Africa. The spread of haplogroup E, however, created the biggest impact on African populations; with its expansion likely resulting in the diminished presence of many of the subclades of haplogroups A and B. The Y chromosome compositions of present sub-Saharan African populations are, thus, the result of several diversification events, followed by migration, and mixing of population groups, over the course of modern human existence.enY ChromosomeDNAGenetics, PopulationThesis