Abstract 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 (F ST value 0.055). However, when each locus was evaluated individually, KEL*06 and FY*02N.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.

中文翻译：

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巴西南部血型的遗传变异

摘要 我们评估了 Kell（c.578C > T 和 c.1790T > C）、Kidd（c.838A > G）、Duffy（c.125A > G、c.265C > T 和 c.1 -67T > C)、Diego (c.2561C > T)、MNS (c.143T > C) 和 Rh (c.676G > C) 在巴西南部的南里奥格兰德州。使用水解探针 (TaqMan®) 和实时 PCR 系统，通过等位基因鉴别分析对 382 名志愿者献血者进行遗传分析。样本分为两组：欧洲巴西人和非洲裔巴西人。与巴西其他地区的研究和 1000 基因组数据库的比较显示，我们人群中评估的几乎所有多态性都有显着差异。欧洲和非洲裔巴西组之间的人口差异很小（F ST 值 0.055）。然而，当单独评估每个位点时，非洲-巴西组的 KEL*06 和 FY*02N.01 等位基因频率显着高于欧洲-巴西组。当需要检测不存在 Duffy 抗原的血液单位时，使用表型标准寻找具有稀有抗原的血液单位的种族分类可能很重要。在非裔巴西群体中找到捐助者的可能性也更大。总而言之，数据表明欧洲和非洲对基因库的贡献很大，而且混合程度很高。在非裔巴西群体中找到捐助者的可能性也更大。总而言之，数据表明欧洲和非洲对基因库的贡献很大，而且混合程度很高。在非裔巴西群体中找到捐助者的可能性也更大。总而言之，数据表明欧洲和非洲对基因库的贡献很大，而且混合程度很高。