巴西人群中HLA-DRB1和HLA-A三个新等位基因的鉴定。

Identification of three novel alleles of HLA-DRB1 and HLA-A in the Brazilian population.

作者信息

Abdeen H, McErlean C, Moraes M E, Torres M, Campiotto S, Galvão S, Gouvea C, Middleton D

机构信息

Northern Ireland Histocompatibility and Immunogenetics Laboratory, Belfast City Hospital, Belfast, UK.

出版信息

Tissue Antigens. 2007 Jun;69(6):607-10. doi: 10.1111/j.1399-0039.2007.00835.x.

DOI:10.1111/j.1399-0039.2007.00835.x

PMID:17498272

Abstract

Two human leukocyte antigen (HLA)-DRB1 (HLA-DRB11376 and -DRB11465) and one HLA-A (HLA-A2471) novel alleles have been identified in individuals from the Brazilian Bone Marrow Donor Registry. DNA sequencing of exon 2 for HLA-DRB1 alleles showed two and five nucleotide substitutions in -DRB11376 and -DRB11465, compared with closely related alleles, respectively. These substitutions result in a change of amino acid residues in HLA-DRB11376 at position 74 (Arg --> Glu) and in -DRB1465 at positions 47 (Tyr --> Phe), 57 (Asp --> Ser) and 74 (Glu --> Ala). On the other hand, sequence analysis of exons 2 and 3 for HLA-A2471 showed a single substitution, leading to a single amino acid change at position 151 (His --> Arg). These three novel alleles may have originated from other HLA alleles by gene conversion. However, it is also possible that HLA-A2471 has evolved from one of the alleles of the HLA-A2402 group through a point mutation.

摘要

在巴西骨髓捐献者登记处的个体中，已鉴定出两个人类白细胞抗原（HLA）-DRB1（HLA-DRB11376和-DRB11465）新等位基因以及一个HLA-A（HLA-A2471）新等位基因。与密切相关的等位基因相比，HLA-DRB1等位基因第2外显子的DNA测序显示，-DRB11376和-DRB11465分别有两个和五个核苷酸替换。这些替换导致HLA-DRB11376第74位氨基酸残基发生变化（Arg→Glu），以及-DRB1465第47位（Tyr→Phe）、第57位（Asp→Ser）和第74位（Glu→Ala）氨基酸残基发生变化。另一方面，HLA-A2471第2和第3外显子的序列分析显示有一个单一替换，导致第151位氨基酸发生单一变化（His→Arg）。这三个新等位基因可能通过基因转换起源于其他HLA等位基因。然而，HLA-A2471也有可能通过点突变从HLA-A2402组的一个等位基因进化而来。