Fundação Centro de Hematologia e Hemoterapia de Minas Gerais - Hemominas, MG, Brazil.
Fundação Centro de Hematologia e Hemoterapia de Minas Gerais - Hemominas, MG, Brazil; Department of Clinical and Toxicological Analysis, Faculty of Pharmacy - Universidade Federal de Minas Gerais, Brazil.
Mol Cell Probes. 2017 Oct;35:20-26. doi: 10.1016/j.mcp.2017.06.001. Epub 2017 Jun 3.
Duffy blood group system is of interest in several fields of science including transfusion medicine, immunology and malariology. Although some methods have been developed for Duffy polymorphism genotyping, not all of them have been sufficiently described and validated, and all present limitations. At the same time, the frequency of Duffy alleles and antigens in some densely populated regions of the world are still missing. In this study we present new tests for genotyping the major alleles of the Duffy blood system and describe Duffy alleles and antigens in blood donors and transfusion-dependent patients in Minas Gerais, Brazil. A simple and reproducible strategy was devised for Duffy genotyping based on real-time PCR that included SNPs rs12075 and rs2814778. No significant differences between the allele frequencies were observed comparing blood donors and patients. Among the blood donors, the phenotype Fy(a-b+) was the most common and the Fy(a-b-) phenotype, associated with populations of African descent, was remarkably less common among subjects who self-identified as black in comparison to other ethnoracial categories. However, the African ancestry estimated by molecular markers was significantly higher in individuals with the allele associated to the Duffy null phenotype. The genotyping method presented may be useful to study Duffy genotypes accurately in different contexts and populations. The results suggest a reduced risk of alloimmunization for Duffy antigens and increased susceptibility for malaria in Minas Gerais, considering the high frequency of Duffy-positive individuals.
达菲血型系统在输血医学、免疫学和疟疾学等多个科学领域都具有重要意义。尽管已经开发出一些用于达菲多态性基因分型的方法，但并非所有方法都得到了充分描述和验证，并且都存在局限性。同时，世界上一些人口密集地区的达菲等位基因和抗原的频率仍然未知。在这项研究中，我们提出了用于基因分型达菲血型系统主要等位基因的新测试，并描述了巴西米纳斯吉拉斯州献血者和依赖输血的患者中的达菲等位基因和抗原。我们设计了一种基于实时 PCR 的简单且可重复的达菲基因分型策略，其中包括 SNP rs12075 和 rs2814778。在献血者和患者之间，观察到等位基因频率没有显著差异。在献血者中，表型 Fy(a-b+)最常见，而与非洲裔人群相关的 Fy(a-b-)表型在自我认定为黑人的受试者中明显比其他种族类别更为罕见。然而，与与达菲阴性表型相关的等位基因相关联的个体中，通过分子标记估计的非洲血统显著更高。所提出的基因分型方法可用于在不同背景和人群中准确研究达菲基因型。研究结果表明，考虑到达菲阳性个体的高频率，米纳斯吉拉斯州的达菲抗原同种免疫风险降低，疟疾易感性增加。
