Laboratorio de Inmunología, Unidad Académica de Ciencias Químico-Biológicas y Farmacéuticas, Universidad Autónoma de Nayarit, Tepic, Nayarit, México.
Laboratorios de Investigación en Biología Molecular e Inmunología, Unidad Académica de Ciencias Químico Biológicas y Farmacéuticas, Universidad Autónoma de Nayarit, Tepic, Nayarit, México.
Mol Genet Genomic Med. 2021 Feb;9(2):e1589. doi: 10.1002/mgg3.1589. Epub 2021 Jan 16.
IKZF1 is a relevant gene associated with the pathogenesis of acute lymphoblastic leukemia, and the rs4132601 (T>G) and rs11978267 (A>G) polymorphisms have been associated with the development of this disease in several populations. The aim of this study was to determine the allelic and genotypic frequencies of the rs4132601 and rs11978267 polymorphisms in two indigenous Mexican groups (Cora and Huichol) and Mestizo populations from Nayarit, Mexico, and compare them with the frequencies of both polymorphisms in other populations of the world.
One hundred, 116, and 100 subjects from the Mestizo, Huichol, and Cora populations, respectively, all of them residents of the state of Nayarit, Mexico, were analyzed. The frequencies of rs4132601 and rs11978267 were determined by allelic discrimination using TaqMan assays.
The allelic frequencies of rs4132601 were as follows: Mestizo group T = 0.74, G = 0.26; Cora T = 0.745, G = 0.255; and Huichol T = 0.47, G = 0.53. In the case of the rs11978267 polymorphism, the allelic frequencies were Mestizo A = 0.745, G = 0.255; Cora A = 0.735, G = 0.265; and Huichol A = 0.457, G = 0.543. For each population, both polymorphisms were in Hardy-Weinberg equilibrium.
The Huichol population from Nayarit presented the highest frequencies of the risk allele reported to date in the whole world for both rs4132601 and rs11978267 polymorphisms.
IKZF1 是与急性淋巴细胞白血病发病机制相关的基因，rs4132601（T>G）和 rs11978267（A>G）多态性已与多个人群中该疾病的发生相关。本研究旨在确定 rs4132601 和 rs11978267 多态性在两个墨西哥本土群体（科拉和惠乔尔）和墨西哥纳亚里特州的梅斯蒂索人群中的等位基因和基因型频率，并将其与世界其他人群中这两种多态性的频率进行比较。
分析了来自墨西哥纳亚里特州的梅斯蒂索人、惠乔尔人和科拉人，分别为 100、116 和 100 名受试者。使用 TaqMan 分析测定 rs4132601 和 rs11978267 的等位基因频率。
rs4132601 的等位基因频率如下：梅斯蒂索人组 T=0.74，G=0.26；科拉 T=0.745，G=0.255；惠乔尔 T=0.47，G=0.53。在 rs11978267 多态性方面，等位基因频率为梅斯蒂索人组 A=0.745，G=0.255；科拉 A=0.735，G=0.265；惠乔尔 A=0.457，G=0.543。对于每个群体，两种多态性均处于哈迪-温伯格平衡。
纳亚里特州的惠乔尔人群呈现出迄今为止全世界报道的 rs4132601 和 rs11978267 多态性风险等位基因的最高频率。
