The elucidation of KIR2DL4 gene polymorphism

Mol Immunol. 2008 Apr;45(7):1900-6. doi: 10.1016/j.molimm.2007.10.038. Epub 2007 Dec 21.

Abstract

The killer cell immunoglobulin-like receptors (KIRs) on NK cells recognize defined groups of HLA class I alleles. By this mechanism the NK cells fulfil a significant role in the first line of defense against infectious agents and cancer. For the treatment of leukaemia this NK cell allorecognition is of great importance. Still, an appropriate effect against the leukaemic cells requires sufficient expression of both KIR and HLA proteins. KIR gene polymorphism influence membrane expression of the KIR protein. We addressed KIR2DL4 gene polymorphism by a newly developed DNA and cDNA based direct sequencing based typing (SBT) and cloning approach. A panel of 44 individuals revealed a variety of KIR2DL4 alleles. Three new alleles have been identified, among those one allele showed alternatively spliced products. In conclusion, this approach is applicable for routine KIR2DL4 allele typing and enables the characterisation of new KIR2DL4 alleles.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • DNA, Complementary / genetics
  • Exons / genetics
  • Gene Frequency
  • Genome, Human / genetics
  • Humans
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Receptors, KIR2DL4 / chemistry
  • Receptors, KIR2DL4 / genetics*
  • Sequence Analysis, DNA

Substances

  • DNA, Complementary
  • KIR2DL4 protein, human
  • Receptors, KIR2DL4