伊朗人群中杀伤细胞免疫球蛋白样受体(KIR)基因的分布。
Distribution of KIR genes in the Iranian population.
作者信息
Tajik N, Shahsavar F, Mousavi T, Radjabzadeh M F
机构信息
Division of Transplant Immunology and Immunogenetics, Department and Research Center of Immunology, Iran University of Medical Sciences, Tehran, Iran.
出版信息
Tissue Antigens. 2009 Jul;74(1):22-31. doi: 10.1111/j.1399-0039.2009.01263.x. Epub 2009 Apr 21.
Killer-cell immunoglobulin-like receptors (KIR) are a family of inhibitory and activating receptors that are expressed mainly by natural killer cells. The KIR gene family is highly polymorphic, and its genomic diversity is achieved through differences in gene content as well as allelic polymorphism. The number of KIR loci has been reported to be various among individuals and therefore resulting in different KIR haplotypes. This study represents the first report on the distribution of 17 presently defined KIR genes and pseudogenes in the Iranian population. In our study, 200 unrelated healthy individuals were KIR typed by a novel polymerase chain reaction-sequence-specific primers genotyping assay, and Iranian KIR genes distribution was compared with other ethnic groups. Over all, twenty-six different genotype profiles were found in our population and all KIR genes were observed. The most frequent non-framework KIR genes detected in our population were KIR2DL1 (96.5%), KIR3DL1 (91.5%), KIR2DS4 (91.5%) and the pseudogene KIR2DP1 (96.5%). The most commonly observed KIR genotype in Iranian population with a frequency of 27.5% consisted of KIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, KIR3DL2, KIR3DL3 and KIR2DS4 genes and the pseudogenes KIR2DP1 and KIR3DP1, which was compatible with a homozygote group-A haplotype. In addition, we found a new genotype (KIR2DL2, KIR2DL4, KIR2DL5, KIR3DL2, KIR3DL3, KIR2DS2, KIR2DS3, KIR2DS5, KIR3DS1 and KIR3DP1) in our samples. The results show that distribution of KIR genes in the Iranian population has common general features with the Caucasian populations studied before but still with unique, decreased or increased frequencies of several loci.
杀伤细胞免疫球蛋白样受体(KIR)是一类主要由自然杀伤细胞表达的抑制性和激活性受体。KIR基因家族具有高度多态性,其基因组多样性通过基因含量差异以及等位基因多态性来实现。据报道,个体之间KIR基因座的数量各不相同,从而导致不同的KIR单倍型。本研究首次报道了17个目前已确定的KIR基因和假基因在伊朗人群中的分布情况。在我们的研究中,采用一种新型聚合酶链反应-序列特异性引物基因分型检测方法对200名无亲缘关系的健康个体进行了KIR分型,并将伊朗人群的KIR基因分布与其他种族群体进行了比较。总体而言,我们的人群中发现了26种不同的基因型谱,且观察到了所有的KIR基因。在我们的人群中检测到的最常见的非框架KIR基因是KIR2DL1(96.5%)、KIR3DL1(91.5%)、KIR2DS4(91.5%)以及假基因KIR2DP1(96.5%)。在伊朗人群中最常观察到的KIR基因型频率为27.5%,由KIR2DL1、KIR2DL3、KIR2DL4、KIR3DL1、KIR3DL2、KIR3DL3和KIR2DS4基因以及假基因KIR2DP1和KIR3DP1组成,这与纯合子A组单倍型相符。此外,我们在样本中发现了一种新的基因型(KIR2DL2、KIR2DL4、KIR2DL5、KIR3DL2、KIR3DL3、KIR2DS2、KIR2DS3、KIR2DS5、KIR3DS1和KIR3DP1)。结果表明,伊朗人群中KIR基因的分布与之前研究的高加索人群具有共同的一般特征,但仍有几个基因座的频率独特,有所降低或升高。
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