Velickovic Marija, Velickovic Zlatibor, Dunckley Heather
Molecular Genetics Section, Tissue Typing, Australian Red Cross Blood Service, 153 Clarence Street, Sydney, NSW 2000, Australia.
Immunogenetics. 2006 Jul;58(7):523-32. doi: 10.1007/s00251-006-0124-3. Epub 2006 May 30.
Killer immunoglobulin-like receptors (KIRs) regulate the activity of NK and T cells through interaction with specific HLA class I molecules on target cells. To date, 16 KIR genes and pseudogenes have been identified. Diversity in KIR gene content and KIR allelic and haplotype polymorphism has been observed between different ethnic groups. Here, we present data on the KIR gene distribution in Pacific Islands populations. Sixteen KIR genes were observed in Pacific Islands populations from the Cook Islands, Samoa, Tokelau, and Tonga. The majority of KIR genes were present at similar frequencies between the four populations with KIR2DL4, KIR3DL2, and KIR3DP1 genes observed in all individuals. Commonly observed KIR genes in Pacific Islands populations (pooled frequencies) were KIR2DL1 (0.77), KIR2DL3 (0.77), KIR3DL1 (0.65), KIR3DL3 (0.93), KIR2DS4/1D (0.78), and KIR2DP1 (0.82), compared to the less-frequently observed KIR2DL2 (0.27), KIR2DL5 (0.30), KIR2DS1 (0.19), KIR2DS2 (0.27), KIR2DS3 (0.16), KIR2DS5 (0.17), and KIR3DS1 (0.18) genes. Differences in KIR gene frequency distributions were observed between the Pacific Islands populations and when compared to other populations. Sixty-nine different genotypes were identified, with five genotypes accounting for more then 50% of all genotypes observed. The number of genotypes observed in each population was similar in the Cook Islands, Samoan, and Tokelauan populations (19, 18, and 19, respectively), but 26 different genotypes were observed in Tongans. The putative haplotype A was predominantly observed over haplotype B in all Pacific Islands populations. Significant linkage disequilibrium was observed for a number of KIR gene pairs.
杀伤细胞免疫球蛋白样受体（KIR）通过与靶细胞上特定的HLA I类分子相互作用来调节自然杀伤细胞（NK）和T细胞的活性。迄今为止，已鉴定出16个KIR基因和假基因。不同种族群体之间观察到KIR基因含量、KIR等位基因和单倍型多态性的差异。在此，我们展示了太平洋岛屿人群中KIR基因分布的数据。在来自库克群岛、萨摩亚、托克劳和汤加的太平洋岛屿人群中观察到了16个KIR基因。四个群体中大多数KIR基因的出现频率相似，所有个体中均观察到KIR2DL4、KIR3DL2和KIR3DP1基因。太平洋岛屿人群中常见的KIR基因（合并频率）为KIR2DL1（0.77）、KIR2DL3（0.77）、KIR3DL1（0.65）、KIR3DL3（0.93）、KIR2DS4/1D（0.78）和KIR2DP1（0.82），相比之下，较少观察到的KIR基因有KIR2DL2（0.27）、KIR2DL5（0.30）、KIR2DS1（0.19）、KIR2DS2（0.27）、KIR2DS3（0.16）、KIR2DS5（0.17）和KIR3DS1（0.18）。在太平洋岛屿人群之间以及与其他人群相比时，观察到KIR基因频率分布存在差异。鉴定出69种不同的基因型，其中5种基因型占所有观察到的基因型的50%以上。在库克群岛、萨摩亚和托克劳人群中观察到的每个群体的基因型数量相似（分别为19种、18种和19种），但在汤加人群中观察到26种不同的基因型。在所有太平洋岛屿人群中，假定的单倍型A比单倍型B更常见。观察到许多KIR基因对存在显著的连锁不平衡。
