title: Distribution of KIR genes in the population of unrelated individuals homozygous for ancestral haplotype AH8.1 (HLA-A1B8DR3).
abstract: Despite the independent segregation of genes encoding killer immunoglobulin-like receptor (KIR) and human leukocyte antigen (HLA), there is some evidence of some kind of co-evolution. Therefore, one could expect reduced KIR diversity within the HLA restricted population. A total of 41 unrelated individuals homozygous for ancestral HLA haplotype AH8.1 (HLA-A*0101-Cw*0701-B*0801-DRB1*0301-DQB1*0201) were genotyped for KIRs. Over all, 14 different genotypes were identified. The KIR genes and genotypes repertoire generally mirror the published frequencies in Caucasians. Except for KIR2DS4, all activating genes presented frequencies below 50%. KIR2DS5 was the least frequent among activating genes (17%), whereas KIR2DL5 (37%) among inhibitory ones. The most frequent (39%) was AA genotype. Twenty-two individuals (54%) had a copy of KIR haplotypes A and B (AB genotype), whereas three (7%) were homozygous for B (BB genotype). Nine of fourteen reported genotypes occurred only in one individual. Five genotypes were reported in less than twenty individuals worldwide and one genotype was reported so far only once. Conversely, the three most frequent genotypes account for 68% of all detected genotypes. The results show the unrestricted KIR diversity in this HLA uniform group and support the fact that the driving force for KIR evolution is not exclusively a major histocompatibility complex.
authors.affiliation: Department of Haematology and Oncology, University Hospital Pilsen, Pilsen, Czech Republic.
authors.forename: P
authors.initials: P
authors.lastname: Jindra
authors.forename: P
authors.initials: P
authors.lastname: Venigová
authors.forename: D
authors.initials: D
authors.lastname: Lysák
authors.forename: K
authors.initials: K
authors.lastname: Steinerova
authors.forename: V
authors.initials: V
authors.lastname: Koza
mesh_terms: D004247:DNA / Q000032:analysis / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D016133:Polymerase Chain Reaction; D044382:Population Groups / Q000235:genetics*; D054340:Receptors, KIR / Q000235:genetics*
chemical_list: D006680:HLA Antigens; D054340:Receptors, KIR; D004247:DNA