Niokou Dimitra, Spyropoulou-Vlachou Maria, Darlamitsou Areti, Stavropoulos-Giokas Catherine
Department of Immunology and National Tissue Typing Laboratory, General Hospital of Athens, 154 Mesogeion Avenue, GR-11527 Athens, Greece.
Hum Immunol. 2003 Dec;64(12):1167-76. doi: 10.1016/j.humimm.2003.08.100.
The interaction between killer cell immunoglobulin-like receptors (KIR) expressed on natural killer (NK) cells, and human leukocyt antigen (HLA) molecules expressed on target cells is known to regulate the cytolytic activity. A wide range of KIR genotypes is observed in the population, as the number of KIR loci can vary. In the present study we have determined the frequencies and combinations of 13 KIR genes and two CD94:NKG2 receptor genes and their distribution in the two haplotype groups in a panel of 233 unrelated healthy Greek Caucasians. We have typed genomic DNA for the presence of the putative KIR loci KIR2DL1, KIR2DL2, KIR2DL3, KIR2DL4, KIR3DL1, KIR3DL2, KIR3DL3, KIR2DS1, KIR2DS2, KIR2DS3, KIR2DS4, KIR2DS5, and KIR3DS1 using modified polymerase chain reaction sequence-specific primers. The frequency of KIR loci combined with the linkage disequilibrium values suggest that the Greek population shares several general features with other Caucasoid populations studied before, but still distinguishes itself by the increased or decreased frequency of several alleles. The majority of the 45 different KIR genotypes seen in Greeks have been observed in Caucasoid populations studied before. Nevertheless, two of these genotypes, although met in other populations, have not been found in Caucasians before. One individual possesses a novel profile with no KIR inhibitory gene. The A haplotypes remain the most prevalent, with AA1 being the most common genotype, and the number of inhibitory KIRs being more variable than the number of noninhibitory KIRs in most haplotypes.
已知自然杀伤（NK）细胞上表达的杀伤细胞免疫球蛋白样受体（KIR）与靶细胞上表达的人类白细胞抗原（HLA）分子之间的相互作用可调节细胞溶解活性。由于KIR基因座的数量可能不同，因此在人群中观察到广泛的KIR基因型。在本研究中，我们确定了233名无亲缘关系的健康希腊高加索人样本中13个KIR基因和两个CD94:NKG2受体基因的频率和组合及其在两个单倍型组中的分布。我们使用改良的聚合酶链反应序列特异性引物对基因组DNA进行分型，以检测推定的KIR基因座KIR2DL1、KIR2DL2、KIR2DL3、KIR2DL4、KIR3DL1、KIR3DL2、KIR3DL3、KIR2DS1、KIR2DS2、KIR2DS3、KIR2DS4、KIR2DS5和KIR3DS1的存在情况。KIR基因座的频率与连锁不平衡值表明，希腊人群与之前研究的其他高加索人群具有一些共同特征，但仍因几个等位基因频率的增加或减少而有所不同。在希腊人中观察到的45种不同KIR基因型中的大多数已在之前研究过 的高加索人群中出现。然而，这些基因型中的两种，尽管在其他人群中出现过，但之前在高加索人中尚未发现。有一个个体具有一种新的谱型，没有KIR抑制基因。A单倍型仍然是最常见的，AA1是最常见的基因型，并且在大多数单倍型中，抑制性KIR的数量比非抑制性KIR的数量更具变异性。
