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The Special Case of HLA Genes: Detection and Resolution of Multiple Polymorphic Sites in a Single Gene

  • Chapter
Molecular Genetic Epidemiology — A Laboratory Perspective

Part of the book series: Principles and Practice ((PRINCIPLES))

Abstract

The major histocompatibility complex (MHC) has been the most intensively studied region of the human genome during the past three decades (Bodmer 1995) and it has also been widely studied in other mammalian species, including primates (Trowsdale 1995). These studies suggest that the MHC is probably the area of the mammalian genome that is most densely populated with functional genes. In humans, the MHCis principally known as the region that includes genes encoding the human leukocyte antigens (HLA), which playa crucial role in regulating the immune response in health and disease. These HLA genes are the most polymorphic found in humans and, since most polymorphisms encode functional variants, this polymorphism results in inter-individual variation in the immune response. As a result of this, HLA polymorphism has long been recognised as a critical factor in determining allograft acceptance and rejection mechanisms in both renal and bone marrow transplantation (Opelz et al. 1993; Madrigal et al. 1997b), while particular HLA genotypes are associated with a large number of benign and malignant immunologically mediated diseases (Thorsby 1997; Bateman and Howell 1999). Although the MHC also encodes a number of other genes of immunological significance (e. g. the tumour necrosis factor genes), this chapter will focus solely upon the so-called “classical” HLA class I and class II antigens.

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Authors and Affiliations

  1. Wessex Immunology Service, Southampton General Hospital, Tenovus Laboratory, Southampton University Hospitals NHS Trust, Tremona Road, Southampton, SO16 6YD, UK

    W. Martin Howell

  2. Combined Laboratory, Derriford Hospital, Plymouth, PL6 8DH, UK

    Katherine L. Poole

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  1. W. Martin Howell
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  2. Katherine L. Poole
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  1. Human Genetics Research Division Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton, SO 16 6YD, UK

    Ian N. M. Day

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Howell, W.M., Poole, K.L. (2002). The Special Case of HLA Genes: Detection and Resolution of Multiple Polymorphic Sites in a Single Gene. In: Day, I.N.M. (eds) Molecular Genetic Epidemiology — A Laboratory Perspective. Principles and Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-56207-5_6

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  • DOI: https://doi.org/10.1007/978-3-642-56207-5_6

  • Publisher Name: Springer, Berlin, Heidelberg

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