Waskow Gabriela, Rodrigues Mirelen Moura de Oliveira, Höher Gabriela, Onsten Tor, Lindenau Juliana Dal-Ri, Fiegenbaum Marilu, Almeida Silvana
Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Programa de Pós-Graduação em Biociências, Porto Alegre, RS, Brazil.
Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
Genet Mol Biol. 2020 May 29;43(2):e20180327. doi: 10.1590/1678-4685-GMB-2018-0327. eCollection 2020.
We evaluated genetic variability among the blood groups Kell (c.578C > T and c.1790T > C), Kidd (c.838A > G), Duffy (c.125A > G, c.265C > T and c.1-67T > C), Diego (c.2561C > T), MNS (c.143T > C) and Rh (c.676G > C) in Rio Grande do Sul in southern Brazil. Genetic profiling from 382 volunteer blood donors was performed through allelic discrimination assays using a hydrolysis probe (TaqMan®) with a real-time PCR system. The sample was divided into two groups: Euro-Brazilian and Afro-Brazilian. A comparison with studies from other regions of Brazil and the 1000 Genomes Database showed significant differences for almost all polymorphisms evaluated in our population. Population differentiation between the Euro- and Afro-Brazilian groups was low (FST value 0.055). However, when each locus was evaluated individually, KEL06 and FY02N.01 allele frequencies were significantly higher in the Afro-Brazilian group than in the Euro-Brazilian group. Ethnic classification that uses phenotypic criteria to find blood units with rare antigens may be important when there is a need to detect blood units with an absence of Duffy antigens. There is also a greater probability of finding donors in the Afro-Brazilian group. Taken together, the data indicate strong European and African contributions to the gene pool, with intense admixture.
我们评估了巴西南部南里奥格兰德州人群中Kell血型(c.578C>T和c.1790T>C)、Kidd血型(c.838A>G)、Duffy血型(c.125A>G、c.265C>T和c.1-67T>C)、Diego血型(c.2561C>T)、MNS血型(c.143T>C)和Rh血型(c.676G>C)的基因变异性。通过使用水解探针(TaqMan®)的等位基因鉴别分析和实时PCR系统,对382名志愿献血者进行了基因分型。样本分为两组:欧洲裔巴西人和非洲裔巴西人。与巴西其他地区的研究以及千人基因组数据库进行比较后发现,我们人群中评估的几乎所有多态性都存在显著差异。欧洲裔和非洲裔巴西人群体之间分化程度较低(FST值为0.055)。然而,单独评估每个基因座时,非洲裔巴西人群体中KEL06和FY02N.01等位基因频率显著高于欧洲裔巴西人群体。在需要检测缺乏Duffy抗原的血液单位时,使用表型标准进行种族分类以寻找具有稀有抗原的血液单位可能很重要。在非洲裔巴西人群体中找到献血者的可能性也更大。总体而言,数据表明欧洲和非洲对基因库有强大贡献,且存在强烈的基因混合。