Abstract
The HLA system, which was discovered by virtue of the fact that it was polymorphic, shows an extraordinary extent of polymorphism making it an attractive candidate for human population studies. The variation in the number of alleles at different loci, together with the pattern of variation within a gene in relation to its function, provides clear evidence for the role of natural selection in maintaining the polymorphism. Some specifities such as HLA-A*02 are remarkable in the extent to which they have minor variants with different frequencies in different parts of the world. The HLA polymorphism is old and the sequences that tend to be conserved are epitopes which may occur in different combinations in different alleles. Close linkage between these loci generates a considerable level of linkage disequilibrium so that haplotype frequencies turn out to be very valuable for the characterisation of populations and their interrelationships. HLA distribution data have made major contributions, for example, to theories of the migration of early farmers across Europe. The selective basis for the generation and maintenance of the HLA polymorphism almost certainly lies in the importance of immune response differences for resistance to infection. A modern consequence is the association of particular HLA types with a variety of autoimmune diseases.
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Bodmer, J.G., Bodmer, W.F. (1999). HLA Polymorphism and Evolution. In: Wasser, S.P. (eds) Evolutionary Theory and Processes: Modern Perspectives. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-4830-6_1
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DOI: https://doi.org/10.1007/978-94-011-4830-6_1
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