The Key Laboratory of Environment and Disease Related Genes, Ministry of Education, Xi'an Jiaotong University, Xi'an, Shaanxi 710061, People's Republic of China.
Mol Biol Rep. 2012 Mar;39(3):3017-28. doi: 10.1007/s11033-011-1064-z. Epub 2011 Jun 24.
Human killer cell immunoglobulin-like receptors are expressed in natural killer cells and subsets of T lymphocytes. They regulate these cells upon interaction with human leukocyte antigen class I molecules and other ligands presented by target cells. KIR gene frequencies and haplotype distributions have been shown to differ significantly between populations from different geographical regions and ethnic origins, which relates to functional variations in the immune response. We have investigated KIR gene frequencies and genotype diversities of 15 KIR genes (KIR2DL1, 2DL2, 2DL3, 2DL4, 2DL5, 2DS1, 2DS2, 2DS3, 2DS4, ID, 2DS5, 3DL1, 3DL2, 3DL3, 3DS1) and two pseudogenes (KIR3DP1 and 2DP1) in 120 unrelated healthy individuals of the Uygur population living in the Xinjiang autonomous region of China. All individuals were typed positive for the four framework loci KIR3DL3, 2DL4, 3DL2 and KIR3DP1, while activating genes (KIR2DS1, 2DS2, 2DS3, 2DS5 and KIR3DS1) indicated some variation in this population. KIR3DS1 was found in a higher frequency in the studied population than in other groups from China. Linkage disequilibrium among KIR genes displayed a wide range. χ(2) analysis, conducted among non-ubiquitous genes, based on the KIR gene frequency data from our study population and previously published population data, revealed significant differences in the KIR2DL1, 2DL2, 2DL3, 2DL5, 3DL1, 2DS1, 2DS2, 2DS3, 2DS5, and 3DS1 genes. A neighbor-joining phylogenic tree, built using the observed carrier frequencies data of 13 KIR loci (KIR2DL1, 2DL2, 2DL3, 2DL4, 2DL5, 3DL1, 3DL2, 3DL3, 2DS1, 2DS2, 2DS3, 2DS5, and 3DS1), showed relationships between the population studied and other previously reported populations. The present study can therefore be valuable for enriching the ethnical gene information resources of the KIR gene pool, for population origin studies and for KIR-related clinical practice.
人类杀伤细胞免疫球蛋白样受体表达于自然杀伤细胞和 T 淋巴细胞亚群中。它们在与人类白细胞抗原 I 类分子和靶细胞上呈现的其他配体相互作用时调节这些细胞。KIR 基因频率和单倍型分布在来自不同地理区域和种族起源的人群中差异显著，这与免疫反应中的功能变化有关。我们研究了 15 个 KIR 基因（KIR2DL1、2DL2、2DL3、2DL4、2DL5、2DS1、2DS2、2DS3、2DS4、ID、2DS5、3DL1、3DL2、3DL3、3DS1）和 2 个假基因（KIR3DP1 和 2DP1）的 KIR 基因频率和基因型多样性，这些基因在 120 名生活在中国新疆维吾尔自治区的维吾尔族无关健康个体中进行了检测。所有个体均在四个框架基因座 KIR3DL3、2DL4、3DL2 和 KIR3DP1 上被检测为阳性，而激活基因（KIR2DS1、2DS2、2DS3、2DS5 和 KIR3DS1）在该人群中存在一些变化。在研究人群中发现 KIR3DS1 的频率高于其他中国人群。KIR 基因之间的连锁不平衡显示出广泛的范围。基于我们研究人群的 KIR 基因频率数据和以前发表的人群数据，对非普遍存在的基因进行 χ(2)分析，揭示了 KIR2DL1、2DL2、2DL3、2DL5、3DL1、2DS1、2DS2、2DS3、2DS5 和 3DS1 基因的显著差异。使用 13 个 KIR 基因座（KIR2DL1、2DL2、2DL3、2DL4、2DL5、3DL1、3DL2、3DL3、2DS1、2DS2、2DS3、2DS5 和 3DS1）的观察到的携带频率数据构建的邻接聚类系统发育树表明，研究人群与其他先前报道的人群之间存在关系。因此，本研究可以丰富 KIR 基因库的民族基因信息资源，为种群起源研究和 KIR 相关临床实践提供参考。
