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Natural Killer Cells pp 63–91Cite as

Diversity of KIR Genes, Alleles and Haplotypes

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Abstract

In this chapter, we discuss the vast polymorphism of the killer cell immunoglobulin-like receptors (KIR), of the natural killer (NK) cell, which rivals that of the HLA complex. There are several aspects of this polymorphism. Initially, there is the presence/absence of individual KIR genes, with four of these genes termed framework genes, being omnipresent, with very few exceptions, in all individuals tested to date. Within each gene, alleles are present at different frequencies. We show how these frequencies vary in different world-wide populations.

Another concept of the KIR complex is the division of an individual genotype into A and/or B haplotypes, the former having a more inhibitory role and the latter, a more activating role on the function of the NK cell. Family studies have been used to ascertain the make-up of these haplotypes, inclusion of allele typing enabling determination of whether one or two copies of a particular gene is present.

The KIR gene complex is rapidly evolving not only at the genetic level but additionally at the functional level with different alleles having different protein expression levels and different avidity with their HLA ligand.

We provide details of a new website, which enables convenient searching for data on KIR gene, allele and genotype frequencies in different populations. Finally, we expand on our original algorithms, using additional family data, to give details on mathematical methods for estimation of haplotypes from genotype data.

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Acknowledgements

We are very grateful to Dr. P. Norman, Stanford and Dr. R. Rajalingam, Los Angeles for their very diligent, constructive and critical reading of the manuscript.

Author information

Authors and Affiliations

  1. Transplant Immunology, Royal Liverpool and Broadgreen University Hospital and School of Infection and Host Defence Liverpool University, Prescott Street, Liverpool, UK

    D. Middleton

  2. Northern Ireland Region Histocompatibility and Immunogenetics Laboratory, Belfast City Hospital, Belfast, Northern Ireland, UK

    F. Gonzalez-Galarza & A. Meenagh

  3. INSERM, Unit 558, University of Toulouse, Toulouse, France

    P. A. Gourraud

  4. Department of Neurology, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA, 94143-043, USA

    P. A. Gourraud

Authors
  1. D. Middleton
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  2. F. Gonzalez-Galarza
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  3. A. Meenagh
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  4. P. A. Gourraud
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Corresponding author

Correspondence to D. Middleton .

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Editors and Affiliations

  1. Lab. Immuno-Allergologie, Centre de Recherche Public, Val Fleuri 84, Luxembourg, 1526, Luxembourg

    Jacques Zimmer

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Middleton, D., Gonzalez-Galarza, F., Meenagh, A., Gourraud, P.A. (2010). Diversity of KIR Genes, Alleles and Haplotypes. In: Zimmer, J. (eds) Natural Killer Cells. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02309-5_3

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