School of Medicine, Xi'an Jiaotong University, Xi'an, Shaanxi 710061, PR China.
Hum Immunol. 2012 Oct;73(10):1031-8. doi: 10.1016/j.humimm.2012.07.317. Epub 2012 Jul 23.
Killer cell immunoglobulin-like receptors (KIRs) are expressed on natural killer cells and as such regulate their response against infection and malignancy. KIR genes are variable in gene content and type, which results in different KIR haplotypes, and can be used to discriminate individuals and populations from different regions or ethnic groups. In the present study, we represent the first report on the KIR gene frequency and content diversities of 14 KIR genes (KIR2DL1, 2DL2, 2DL3, 2DL4, 2DL5, 2DS1, 2DS2, 2DS3, 2DS4, 2DS5, 3DL1, 3DL2, 3DL3, 3DS1) and 2 pseudogenes (KIR3DP1 and 2DP1) in the Chinese Mongolian population. The 16 detected KIR genes were all observed. All the individuals were typed positive for the four framework genes KIR3DL3, 3DL2, 2DL4 and the pseudogene KIR3DP1, as well as for the pseudogene KIR2DP1. The observed carrier gene frequencies (OF) of the other KIR genes ranged from 16% at the KIR2DL2 locus to 93% at the KIR3DL1 locus. Over all, 48 different gene profiles were found in the study population and the most commonly observed KIR gene profile with a frequency of 14% consisted of KIR2DL4, 3DL2, 3DL3, 2DP1, 3DP1, 2DL1, 2DL3 and 3DL1 which belongs to the AA genotype. Principal component analysis (PCA) and the dendrogram illustrated the genetic distances between our study population and previously published populations from other ethnic groups or regions. The results of the present study show that the KIR gene family is highly polymorphic and can be a valuable tool for enriching the Chinese ethnical gene information resources, for anthropological studies, as well as for KIR gene related disease research.
杀伤细胞免疫球蛋白样受体 (KIR) 表达于自然杀伤细胞上，因此调节其对感染和恶性肿瘤的反应。KIR 基因在基因含量和类型上存在变异性，导致不同的 KIR 单倍型，并可用于区分来自不同地区或种族群体的个体和人群。在本研究中，我们首次报告了中国蒙古族人群中 14 个 KIR 基因（KIR2DL1、2DL2、2DL3、2DL4、2DL5、2DS1、2DS2、2DS3、2DS4、2DS5、3DL1、3DL2、3DL3、3DS1）和 2 个假基因（KIR3DP1 和 2DP1）的 KIR 基因频率和内容多样性。检测到的 16 个 KIR 基因均被观察到。所有个体均为 4 个框架基因 KIR3DL3、3DL2、2DL4 和假基因 KIR3DP1 以及假基因 KIR2DP1 的阳性分型。其他 KIR 基因的观察到的携带基因频率 (OF) 范围从 KIR2DL2 基因座的 16%到 KIR3DL1 基因座的 93%。总的来说，在研究人群中发现了 48 种不同的基因谱，最常见的观察到的 KIR 基因谱的频率为 14%，由 KIR2DL4、3DL2、3DL3、2DP1、3DP1、2DL1、2DL3 和 3DL1 组成，属于 AA 基因型。主成分分析 (PCA) 和聚类图说明了我们的研究人群与来自其他种族或地区的先前发表的人群之间的遗传距离。本研究的结果表明，KIR 基因家族高度多态性，可以作为丰富中国民族基因信息资源、人类学研究以及与 KIR 基因相关疾病研究的有用工具。
