Abstract
This chapter describes the molecular genetics of the HLA genes, which reside within a genetic complex referred to as the major histocompatibility complex (MHC). The MHC contains the most polymorphic coding sequences in the human genome. HLA molecules provide the molecular basis for immunologic self-recognition, and many HLA genes encode proteins that function within immune regulatory networks.
This chapter describes (1) methods used for population genetic analyses including estimation of allele and haplotype frequencies and disease association studies; (2) the clinical utility of HLA typing for solid organ and bone marrow/hematopoietic cell transplantation, autoimmune diseases, and other disorders; (3) available assays for HLA typing, definition of typing resolution, and interpretation and reporting of test results.
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Kamoun, M., Hollenbach, J.A., Mack, S.J., Williams, T.M. (2016). Molecular HLA Typing. In: Leonard, D. (eds) Molecular Pathology in Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-319-19674-9_58
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DOI: https://doi.org/10.1007/978-3-319-19674-9_58
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-19673-2
Online ISBN: 978-3-319-19674-9
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