Identification of three novel alleles of HLA-DRB1 and HLA-A in the Brazilian population
Identification of three novel alleles of HLA-DRB1 and HLA-A in the Brazilian population
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DOI：
10.1111/j.1399-0039.2007.00835.x
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发表时间：
2007-06-01
期刊：
影响因子：
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通讯作者：
Middleton, D.
中科院分区：
文献类型：
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作者：
Abdeen, H.;McErlean, C.;Middleton, D.
两个人类白细胞抗原（HLA）-DRB 1（HLA-DRB 1 *1376和-DRB 1 *1465）和一个HLA-A（HLA-A*2471）新等位基因已被确定在巴西骨髓供体登记处的个人。HLA-DRB 1等位基因外显子2的DNA测序显示，与密切相关的等位基因相比，-DRB 1 *1376和-DRB 1 *1465分别有2个和5个核苷酸替换。这些取代导致HLA-DRB 1 *1376中第74位（Arg -> Glu）和-DRB*1465中第47位（Tyr -> Phe）、第57位（Asp -> Ser）和第74位（Glu -> Ala）的氨基酸残基的变化。另一方面，HLA-A*2471的外显子2和3的序列分析显示单个取代，导致位置151处的单个氨基酸改变（His -> Arg）。这三个新的等位基因可能起源于其他HLA等位基因的基因转换。然而，HLA-A*2471也可能是通过点突变从HLA-A*2402组的等位基因之一进化而来的。
Two human leukocyte antigen (HLA)-DRB1 (HLA-DRB1*1376 and -DRB1*1465) and one HLA-A (HLA-A*2471) 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 -DRB1*1376 and -DRB1*1465, compared with closely related alleles, respectively. These substitutions result in a change of amino acid residues in HLA-DRB1*1376 at position 74 (Arg -> Glu) and in -DRB*1465 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-A*2471 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-A*2471 has evolved from one of the alleles of the HLA-A*2402 group through a point mutation.