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Diversity of KIR Genes, Alleles and Haplotypes

  • D. MiddletonEmail author
  • F. Gonzalez-Galarza
  • A. Meenagh
  • P. A. Gourraud
Chapter

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.

Keywords

Natural Killer Cell Human Leukocyte Antigen Sequence Specific Oligonucleotide Probe Human Leukocyte Antigen Ligand International Histocompatibility Workshop 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

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.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  • D. Middleton
    • 1
    Email author
  • F. Gonzalez-Galarza
    • 2
  • A. Meenagh
    • 2
  • P. A. Gourraud
    • 3
    • 4
  1. 1.Transplant ImmunologyRoyal Liverpool and Broadgreen University Hospital and School of Infection and Host Defence Liverpool UniversityLiverpoolUK
  2. 2.Northern Ireland Region Histocompatibility and Immunogenetics LaboratoryBelfast City HospitalBelfastUK
  3. 3.INSERM, Unit 558University of ToulouseToulouseFrance
  4. 4.Department of NeurologyUniversity of California at San FranciscoSan FranciscoUSA

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