Uhrberg Markus, Parham Peter, Wernet Peter
Institute for Transplantation Diagnostics and Cell Therapeutics, University Clinic of Düsseldorf, Building 14.80, Moorenstrasse 5, 40225 Düsseldorf, Germany.
Immunogenetics. 2002 Jul;54(4):221-9. doi: 10.1007/s00251-002-0463-7. Epub 2002 Jun 14.
The segregation of killer cell immunoglobulin-like receptor ( KIR) genes was determined for a panel of 21 Caucasoid families: 23 different KIR gene patterns were found and could be assigned to combinations of 16 different haplotypes. Four loci were held in common by all haplotypes: KIR2DL4, KIR3DL2, the putative pseudogene KIR3DL3 and KIR2DL2/KIR2DL3, the latter likely being alleles of one gene. Group A haplotypes, which have a unique combination of seven KIR genes, were found at 80% frequency in the family panel, the polygenic group B haplotypes at 65% frequency. KIR gene segregation was fully determined for the nine group B haplotypes, which occurred at highest frequencies in both the family panel and a panel of unrelated individuals. The group B haplotypes carried between seven and 11 KIR genes and encoded inhibitory KIR for one, two, or all three major HLA class I epitopes. Analysis of human leucocyte antigen (HLA) class I genotypes revealed that most, but not all, individuals possess an inhibitory KIR for a self HLA class I epitope. The number of stimulatory KIR genes in group B haplotypes varied considerably between one and five. The data show that group B haplotypes possess a broad spectrum of KIR gene patterns, which is largely complementary to the KIR gene set of group A haplotypes. The results suggest that rapid diversification of group B haplotypes is the result of pathogen-mediated selection for KIR genotypes that have more than the set of KIR genes provided by the group A haplotype.
在一组21个高加索家庭中确定了杀伤细胞免疫球蛋白样受体（KIR）基因的分离情况：发现了23种不同的KIR基因模式，并可将其归为16种不同单倍型的组合。所有单倍型共有四个基因座：KIR2DL4、KIR3DL2、推定的假基因KIR3DL3以及KIR2DL2/KIR2DL3，后者可能是一个基因的等位基因。在家庭组中，具有七种KIR基因独特组合的A组单倍型出现频率为80%，多基因B组单倍型出现频率为65%。已完全确定了九种B组单倍型的KIR基因分离情况，它们在家庭组和一组无关个体中出现频率最高。B组单倍型携带7至11个KIR基因，并编码针对一种、两种或所有三种主要HLA I类表位的抑制性KIR。对人类白细胞抗原（HLA）I类基因型的分析表明，大多数（但并非全部）个体拥有针对自身HLA I类表位的抑制性KIR。B组单倍型中刺激性KIR基因的数量在1至5个之间差异很大。数据表明，B组单倍型具有广泛的KIR基因模式，这在很大程度上与A组单倍型的KIR基因集互补。结果表明，B组单倍型的快速多样化是病原体介导的对具有超过A组单倍型所提供KIR基因集的KIR基因型选择的结果。
