Laboratorio de Genómica Viral y Humana, Universidad Autónoma de San Luis Potosí, Avenida Venustiano Carranza, Colonia Filtros las Lomas, San Luis Potosí, México.
Immunogenetics. 2011 Sep;63(9):561-75. doi: 10.1007/s00251-011-0540-x. Epub 2011 Jun 4.
Natural killer (NK) cell function is regulated by different types of membrane-bound receptors of which killer-cell immunoglobulin-like receptors (KIRs) are the most complex and diverse. KIRs are encoded by 17 different genes located within the leukocyte receptor complex (19q13.4). The frequency with which KIR gene features are present in different human populations differs. Here, we present our results on the KIR gene diversity observed in a large group of mestizos from the central Mexican city of San Luis Potosí. In total, 53 different KIR genotypes were observed, 47 with previously described gene profiles and six harboring novel KIR gene combinations. Group A homozygous haplotypes were seen in 102 individuals (34%), while group B homozygous haplotypes were present in 45 (15%). Heterozygous combinations of groups A and B haplotypes were seen in 153 individuals (51%). Haplotype frequency estimations based on a true content of 600 chromosomes showed a relatively balanced proportion of group A (59.5%) and group B (40.5%) haplotypes in our study population. A homozygous combination of the cA01|tA01 haplotype was present in 33% of the population with other frequent combinations being cA01|tA01, cB03|tB01 in 14.7% and cA01|tA01, cB02|tA01 in 12%. The dendrogram derived from activating KIR gene phylogenetic analysis revealed five clearly distinct clades corresponding to African, East Asian, Arab/Caucasoid, Mexican mestizo/Amerindian and South Asian populations. Our results illustrate the genetic contribution that Caucasoid and Amerindian populations have made toward present-day Mexicans and suggest an important Southeast Asian genetic contribution to native Amerindian populations.
自然杀伤 (NK) 细胞的功能受不同类型的细胞膜受体调节，其中杀伤细胞免疫球蛋白样受体 (KIR) 最为复杂和多样化。KIR 由 17 个不同的基因编码，位于白细胞受体复合物 (19q13.4) 内。不同人群中 KIR 基因特征的出现频率不同。在这里，我们介绍了在来自墨西哥中部城市圣路易斯波托西的一大群梅斯蒂索人中观察到的 KIR 基因多样性的结果。总共观察到 53 种不同的 KIR 基因型，其中 47 种具有先前描述的基因谱，6 种具有新的 KIR 基因组合。A 组纯合单倍型见于 102 人（34%），B 组纯合单倍型见于 45 人（15%）。A 组和 B 组单倍型的杂合组合见于 153 人（51%）。基于 600 条染色体的真实含量进行的单倍型频率估计显示，我们研究人群中 A 组（59.5%）和 B 组（40.5%）单倍型的比例相对平衡。cA01|tA01 单倍型的纯合组合在人群中的比例为 33%，其他常见组合为 cA01|tA01、cB03|tB01（14.7%）和 cA01|tA01、cB02|tA01（12%）。从激活的 KIR 基因系统发育分析得出的系统发育树显示了五个明显不同的分支，分别对应于非洲、东亚、阿拉伯/高加索、墨西哥梅斯蒂索人和南亚人群。我们的结果说明了高加索人和美洲印第安人对当今墨西哥人的遗传贡献，并表明南亚对美洲原住民的遗传贡献也很重要。
