Identification of two novel alleles HLA-B*3569 and -B*4450 and confirmation of HLA-A*2631 in the Brazilian population
Identification of two novel alleles HLA-B*3569 and -B*4450 and confirmation of HLA-A*2631 in the Brazilian population
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DOI：
10.1111/j.1399-0039.2006.00788.x
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发表时间：
2007-03-01
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.
两个新的等位基因，人类白细胞抗原（HLA）-B*3569，-B*4450和HLA-A*2631的确认序列在巴西骨髓供体登记处的常规分型过程中被确定。对HLA-B*3569和HLA-B*4450基因外显子2和外显子3进行序列分析，发现HLA-B*3569和HLA-B*4450分别有一个和两个碱基替换。在蛋白质水平上，这些取代分别导致HLA-B *3569和-B*4450中第74位（Arg > Pro）和第80位（Thr > Ile）的单个氨基酸残基的变化。这些变异位于HLA分子α（1）结构域末端的高度多态性区域。HLA-B*3569似乎是通过点突变从类似的HLA-B*3510产生的。然而，HLA-B *4450可能是由HLA-B *440301和-B*4425通过基因转换产生的。
Two novel alleles, human leukocyte antigen (HLA)-B*3569, -B*4450 and a confirmatory sequence of HLA-A*2631 were identified during a routine typing for the Brazilian Bone Marrow Donor Registry. Sequence analysis of coding exons 2 and 3 revealed a single nucleotide substitution in HLA-B*3569 and two single nucleotide substitutions in HLA-B*4450, compared with closely related alleles. At the protein level, these substitutions result in a change of a single amino acid residue in each of HLA-B*3569 and -B*4450 at positions 74 (Arg > Pro) and 80 (Thr > Ile), respectively. These variations are located in the highly polymorphic region at the end of the alpha(1) domain of the HLA molecule. It appears that HLA-B*3569 arose from the analogous HLA-B*3510 through a point mutation. However, HLA-B*4450 may have arisen from HLA-B*440301 and -B*4425 by gene conversion.