Definition of gene content for nine common group B haplotypes of the Caucasoid population:: KIR haplotypes contain between seven and eleven KIR genes
Definition of gene content for nine common group B haplotypes of the Caucasoid population:: KIR haplotypes contain between seven and eleven KIR genes
复制标题
DOI：
10.1007/s00251-002-0463-7
复制
发表时间：
2002-07-01
期刊：
影响因子：
3.2
通讯作者：
Wernet, P
中科院分区：
文献类型：
--
作者：
Uhrberg, M;Parham, P;Wernet, P
确定了 21 个高加索家族的杀伤细胞免疫球蛋白样受体 (KIR) 基因的分离：发现了 23 种不同的 KIR 基因模式，并且可以将其分配给 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 和 KIR2DL2/KIR2DL3，后者可能是一个基因的等位基因。 A 组单倍型具有 7 个 KIR 基因的独特组合，在家谱中发现的频率为 80%，多基因 B 组单倍型的频率为 65%。 9 个 B 组单倍型的 KIR 基因分离已完全确定，该单倍型在家族组和无关个体组中出现频率最高。 B 组单倍型携带 7 至 11 个 KIR 基因，并编码一个、两个或全部三个主要 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（但不是全部）个体对自身 HLA I 类表位具有抑制性 KIR。 B 组单倍型中刺激性 KIR 基因的数量在 1 到 5 之间变化很大。数据显示，B 组单倍型拥有广谱的 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 KIR 基因型选择的结果，该基因型具有比 A 组单倍型提供的 KIR 基因组更多的 KIR 基因。
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 I I 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.