Human diversity in killer cell inhibitory receptor genes
Human diversity in killer cell inhibitory receptor genes
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DOI：
10.1016/s1074-7613(00)80394-5
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发表时间：
1997-12-01
期刊：
影响因子：
32.4
通讯作者：
Parham, P
中科院分区：
文献类型：
--
作者：
Uhrberg, M;Valiante, NM;Parham, P
使用分子分型技术分析了 68 名供体的杀伤抑制受体 (KIR) 和 CD94:NKG2 基因的存在和表达。每个人体内都存在编码 CD94:NKG2 受体的基因，但 KIR 基因的拥有情况各不相同。大多数个体对三种明确定义的 HLA-B 和 -C 配体表达抑制性 KIR，但非抑制性 KIR 基因变化更大。定义了二十种不同的 KIR 表型。两组 KIR 单倍型是有区别的，并且出现的频率相对均匀。 A 组 KIR 单倍型由 6 个基因组成：主要抑制性 KIR、一个非抑制性 KIR 和一个结构上不同的 KIR。检测到五个 KIR 基因内的等位基因多态性。 B组包含更多非抑制性KIR基因，并且含有A组中未代表的至少一种额外基因。因此，KIR基因座在人群中似乎是多基因和多态性的。
The presence and expression of killer inhibitory receptor (KIR) and CD94:NKG2 genes from 68 donors were analyzed using molecular typing techniques. The genes encoding CD94:NKG2 receptors were present in each person, but KIR gene possession varied. Most individuals expressed inhibitory KIR for the three well-defined HLA-B and -C ligands, but noninhibitory KIR genes were more variable. Twenty different KIR phenotypes were defined. Two groups of KIR haplotypes were distinguished and occurred at relatively even frequency. Group A KIR haplotypes consist of six genes: the main inhibitory KIR, one noninhibitory KIR, and a structurally divergent KIR. Allelic polymorphism within five KIR genes was detected. Group B comprises more noninhibitory KIR genes and contains at least one additional gene not represented in group A. The KIR locus therefore appears to be polygenic and polymorphic within the human population.