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GENETICS OF SUSCEPTIBILITY TO HUMAN INFECTIOUS DISEASE
GENETICS OF SUSCEPTIBILITY TO HUMAN INFECTIOUS DISEASE

... Blood groups, both common and rare, have been associated with infectious disease. Blood group O (of the ABO system) is found at a higher frequency in severe cases of cholera than in the general population19. Although initial suggestions that this was related to the secretion of blood-group antigens ...
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Slide 1

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... BO), AB (genotype AB), and O (genotype OO) (Table 14.2 (7th) (Fig. 14.10 6th)). Some genes of the HLA (human leukocyte antigen system) which is involved in the immune response have over 200 alleles. Organ transplants have a much higher success rate when donor and recipient are matched for their HLA ...
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Learning Objectives
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... 10. Distinguish between antigens and antibodies; self and non-self. 11. Distinguish between antigen and epitope. 12. Explain how B lymphocytes and T lymphocytes recognize specific antigens 13. Explain how the particular structure of a lymphocyte’s antigen binding site forms during development. Expla ...
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Human leukocyte antigen



The human leukocyte antigen (HLA) system is the locus of genes that encode for proteins on the surface of cells that are responsible for regulation of the immune system in humans. This group of genes resides on chromosome 6 (exception: the gene for β2-microglobulin which is located on chromosome 15), and encodes cell-surface antigen-presenting proteins and has many other functions. The HLA genes are the human versions of the major histocompatibility complex (MHC) genes that are found in most vertebrates (and thus are the most studied of the MHC genes). The proteins encoded by certain genes are also known as antigens, as a result of their historic discovery as factors in organ transplants. The major HLAs are essential elements for immune function. Different classes have different functions:HLAs corresponding to MHC class I (A, B, and C) present peptides from inside the cell. For example, if the cell is infected by a virus, the HLA system brings fragments of the virus to the surface of the cell so that the cell can be destroyed by the immune system. These peptides are produced from digested proteins that are broken down in the proteasomes. In general, these particular peptides are small polymers, about 9 amino acids in length. Foreign antigens presented by MHC class I attract killer T-cells (also called CD8 positive- or cytotoxic T-cells) that destroy cells.HLAs corresponding to MHC class II (DP, DM, DOA, DOB, DQ, and DR) present antigens from outside of the cell to T-lymphocytes. These particular antigens stimulate the multiplication of T-helper cells, which in turn stimulate antibody-producing B-cells to produce antibodies to that specific antigen. Self-antigens are suppressed by regulatory T cells.HLAs corresponding to MHC class III encode components of the complement system.HLAs have other roles. They are important in disease defense. They are the major cause of organ transplant rejections. They may protect against or fail to protect (if down-regulated by an infection) against cancers. Mutations in HLA may be linked to autoimmune disease (examples: type I diabetes, coeliac disease). HLA may also be related to people's perception of the odor of other people, and may be involved in mate selection, as at least one study found a lower-than-expected rate of HLA similarity between spouses in an isolated community.Aside from the genes encoding the 6 major antigen-presenting proteins, there are a large number of other genes, many involved in immune function, located on the HLA complex. Diversity of HLAs in the human population is one aspect of disease defense, and, as a result, the chance of two unrelated individuals with identical HLA molecules on all loci is very low. HLA genes have historically been identified as a result of the ability to successfully transplant organs between HLA-similar individuals.
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