Y-chromosome variation in the South African 'coloured' population

Motladiile, Thejane Wilson
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Genetic polymorphisms within the non-recombining portion of Y-chromosome (NRY) preserve a record of human paternal genetic heritage that has persisted to the present, allowing human evolutionary inference, population affinity and demographic history, to be elucidated. To elucidate the geographic origins of the paternal ancestry of the present- day South African (SA) ‘Coloured’ population, a total sample of 167 individuals consisting of Cape Malay (N=54) and ‘Coloured’ groups from Cape Town (N=48) and Johannesburg (N=65) were analysed at 21 binary and eight short tandem repeat (STR) polymorphic loci within NRY. A SA White sample (present study, N=97) as well as other presumed parental populations were included for comparative analysis. Haplotypes constructed using both biallelic haplogroup and STR haplotype data assisted in resolving the geographic regions of origin of Y-chromosome in these groups. Altogether the proportions of African, European and Asian contributions were estimated to be 0%, 18.5% and 46.3% in the Cape Malay, 31.3%, 25% and 20.1% in the Cape ‘Coloureds’, and 24.6%, 40% and 16.9%, in the ‘Coloured’ group from Johannesburg. Those haplotypes that could not be unambiguously resolved to European or Asian origins were referred to as Eurasian lineages, and constituted 35.2%, 22.9% and 18.5% of Y- chromosomes in the Cape Malays, Cape ‘Coloureds’ and Johannesburg ‘Coloureds’, respectively. While the ‘Coloured’ groups currently residing in Cape Town and Johannesburg were not significantly different from each other, both groups were significantly different from the Cape Malay population. This was further supported from the association of these groups in population trees. For the most part, these data corroborate historical data concerning the history of ‘Coloured’ populations, but is the first study to show how males have contributed in shaping the gene pool of the ‘Coloured’ population from South Africa.
A 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 in the Division of Human Genetics.