In this chapter the impact on human genetic diversity of the major selective pressures exerted by parasitic diseases such as malaria are reviewed. Ethnic groups showing different levels of resistance to malaria such as the Tharu of Nepal, and the Fulani and Dogon people of West Africa, are described. The evidence supporting balanced polymorphisms is discussed including thalassaemia and structural variants of haemoglobin. Genetic variation involving Duffy antigen receptors required for parasite invasion of red blood cells are described, together with G6PD deficiency and diversity in immune related genes, notably HLA-B53. The role of cytoadherence, diversity in host receptors such as ICAM1 and parasite variation in antigen presentation is discussed. The role of mouse studies in leishmaniasis in defining genetic susceptibility to disease is reviewed, together with application of linkage analyses. Linkage and other analyses of schistosomiasis in Brazil and of ascariasis among the Jirel people of Nepal are described.
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