Ansari Pour, N.; (2011) Human genetic variation, relationships of peoples of sub- Saharan Africa and implications for healthcare. Doctoral thesis , UCL (University College London).

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Abstract

Sub-Saharan Africa is thought to have the most genetic variation of any continent and to be the place of origin of anatomically modern human. Nevertheless it is the subject of relatively few studies of human genetic variation. This thesis contributes to redressing this imbalance. Sex-specific genetic systems (non-recombining portion of the Y chromosome (NRY) and mitochondrial DNA (mtDNA)) along with functional nuclear loci were characterised in multiple sub-Saharan African populations with large sample sizes to infer relationships of peoples and identify implications for healthcare. This thesis contains four projects which addressed questions in genetic anthropology, human evolution and pharmacogenetics utilising human genetic variation. In chapter 2, NRY analysis shows that a hypothesised paternal Yombe (Congo) ancestry of Palenque (Colombia), based on linguistic and historical evidence, is consistent with genetic data. Chapter 3, based on NRY data, demonstrates that a) multiple waves of migration occurred southwards during the expansion of Bantu-speaking peoples (EBSP), b) the eastern route displayed more recent migrations than the western route and c) the absence of substantial east to west NRY gene flow in sub-Saharan Africa over the past millennium. Chapter 4 suggests an eastern route out of Africa for the CASP12 truncated variant is more likely than a western route. (The stop-codon mutation was also dated to around 120,000 YBP). Chapter 5 demonstrates that a potentially functional CYP1A2 variant which has not been reported outside Africa is present at considerable frequencies in sub-Saharan African population groups and that exons associated with active sites in CYP1A genes are well conserved.

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