等位基因
人类白细胞抗原
人口
生物
遗传学
打字
免疫学
医学
基因
抗原
环境卫生
作者
José Samuel da Silva,Jeane Eliete Laguila Visentainer,R. A. Fabreti‐Oliveira,Felipe Carlos Brito de Souza,Márcio Silva,Alexandre C. Sena,Monica Goldenstein,Renata Esterque Claudino,Patrícia Jeanne de Souza Mendonça Mattos,Juliana Pessanha Rodrigues Motta,Danielle Secco,Danielli Oliveira Silva,Luís Cristóvão Pôrto
摘要
ABSTRACT This study investigates the HLA allele diversity in Brazil, a reflection of the country's unique history of population admixture. The international comparison of findings emphasises the importance of incorporating underrepresented populations into global HLA databases. We present a comprehensive analysis of HLA alleles within the Brazilian population, utilising high‐resolution sequencing data from 298,000 unrelated haematopoietic stem cell volunteer donors registered with the Brazilian Bone Marrow Donor Registry (REDOME). Our research encompasses donors from all regions of Brazil, identifying HLA alleles that are catalogued as common, intermediate or well‐documented (CIWD Version 3.0). We evaluated the alleles of HLA‐A, HLA‐B, HLA‐C, HLA‐DRB1, HLA‐DQA1, HLA‐DQB1, HLA‐DPA1 and HLA‐DPB1. At a two‐field resolution, we identified 1969 alleles: 418 were classified as common, 358 as intermediate and 1193 as non‐CIWD in Brazil. Notably, we report HLA alleles that, while not classified as common or intermediate in the CIWD 3.0 catalogue, are prevalent within the Brazilian population. A detailed list of alleles from the registry, presented at a two‐field resolution and supplemented with grouped ARD levels, including three‐ or four‐field resolution when available, serves as an essential reference for HLA typing frequencies specific to the Brazilian population.
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