6.333333
#21
KIR GENOTYPE LACKING OF SOME CONSERVED GENES.
M.R. Uribe BS ¹, S. Adams BS ², E. Pae ³, D. Stroncek MD ⁴ and F. Marincola MD ⁵. ¹ DTM-HLA Lab, NIH, Bethesda, MD, USA and ² Fenway Community Health Center .

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KIR genotyping is performed in our laboratory using a commercial low resolution PCR-SSP method. Cell lines from the 10th International Workshop were used to validate this test prior to implementation. KIR haplotypes differ in the number and type of genes present. Genes KIR3DL3 and KIR3DL2 on the centromeric and telomeric ends respectively, and KIR 3DP1-KIR2DL4 in the central region are present on virtually all haplotypes and have therefore been termed framework genes. To date we have performed more than 100 KIR genotypes. Recently we discovered a KIR genotype from an HIV infected patient that was lacking of KIR 3DL1/KIR3DS1, and two of the frame work genes, KIR2DL4 and KIR3DP1. We hypothesize that this genotype is the result of truncated KIR haplotypes that were produced by a non-reciprocal recombination event. Recently a new allele KIR3DP1*004 that associates with gene duplications of KIR3DP1, KIR2DL4, and KIR3DL1/KIR3DS1 was described. Non-reciprocal recombination has been postulated as the event that generated the haplotype containing a region of three duplicated genes. Two haplotypes with very different gene content resulted from this event; one containing duplicated genes, and one lacking of otherwise conserved genes. Rare KIR haplotypes, where some conserved genes are absent, have also been described previously in three other healthy individuals when performing population studies. The frequency of KIR haplotypes lacking of KIR3DL1/KIR3DS1, KIR2DL4 and KIR3DP1 may be higher than described, since these events have been detected when performing genotype testing, where only homozygous haplotypes with deleted genes can be detected. Further characterization of truncated KIR haplotypes may help to elucidate any functional consequences associated with this event.