首页> 外文期刊>Tzu Chi Medical Journal >Recognition of the deduced probable HLA haplotypes associated with HLA low incidence alleles B?13:50 (A?11:02-B?13:50-DRB1?07:01) and B?51:39 (A?02-B?51:39-DRB1?15; and A?11-B?51:39-DRB1?15) in Taiwanese unrelated hematopoietic stem cell donors
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Recognition of the deduced probable HLA haplotypes associated with HLA low incidence alleles B?13:50 (A?11:02-B?13:50-DRB1?07:01) and B?51:39 (A?02-B?51:39-DRB1?15; and A?11-B?51:39-DRB1?15) in Taiwanese unrelated hematopoietic stem cell donors

机译:识别与HLA低发病等位基因B?13:50(A?11:02-B?13:50-DRB1?07:01)和B?51:39(A?02-B? 51:39-DRB1?15;和A?11-B?51:39-DRB1?15)在台湾无关的造血干细胞供体中

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Objectives HLA-B?13:50 and -B?51:39 are two low incidence alleles in the HLA-B locus. The objective of this study is to report the deduced probable human leukocyte antigen (HLA) haplotypes in association with HLA-B?13:50 and -B?51:39 in Taiwanese unrelated bone marrow hematopoietic stem cell donors. Materials and Methods A sequence-based typing method was used to confirm the two low incidence alleles observed. Polymerase chain reaction was performed to amplify exons 2 and 3 in the HLA-A and HLA-B loci and exon 2 in the HLA-DRB1 locus with group-specific primer sets. Amplicons were sequenced using the BigDye Terminator Cycle Sequencing Ready Reaction Kit in both directions according to the manufacturer's protocols. Results The DNA sequence of B?13:50 is identical to B?13:01:01 in exons 2 and 3, except for a one nucleotide substitution at residue 482 (A→T), which results in a one amino acid replacement at position 137 (aspartic acid→valine). We deduced the probable HLA haplotype in association with B?13:50 in Taiwanese as A?11:02-B?13:50-DRB1?07:01. The DNA sequence of B?51:39 is identical to B?51:01:03 in exons 2 and 3 except for two nucleotide exchanges at residue 226 (A→G) and residue 228 (A→G), which result in a one amino acid substitution at position 52 (isoleucine→valine).The probable HLA haplotypes associated with B?51:39 in Taiwanese may be deduced as A?02-B?51:39-DRB1?15 and A?11-B?51:39-DRB1?15. Conclusion Information on the deduced HLA haplotypes in association with the low incidence B?13:50 and B?51:39 alleles that we report here is valuable for HLA testing laboratories for reference purposes and for stem cell transplantation donor search coordinators, to determine the likelihood of finding compatible donors in unrelated bone marrow donor registries for patients carrying these two uncommon HLA alleles.
机译:目标HLA-B?13:50和-B?51:39是HLA-B基因座中的两个低发生率等位基因。这项研究的目的是报告台湾无关的骨髓造血干细胞供体中与HLA-B?13:50和-B?51:39相关的推定的人类白细胞抗原(HLA)单倍型。材料和方法使用基于序列的分型方法来确认观察到的两个低发生率等位基因。进行聚合酶链反应以扩增具有组特异性引物对的HLA-A和HLA-B基因座中的外显子2和3,以及HLA-DRB1基因座中的外显子2。使用BigDye终止子循环测序就绪反应试剂盒按照制造商的规程在两个方向对扩增子进行测序。结果B?13:50的DNA序列与外显子2和3中的B?13:01:01相同,除了在残基482(A→T)处有一个核苷酸取代,这导致在外显子2处有一个氨基酸取代。位置137(天冬氨酸→缬氨酸)。我们推论台湾人中与B?13:50相关的HLA单倍型可能是A?11:02-B?13:50-DRB1?07:01。 B?51:39的DNA序列与外显子2和3中的B?51:01:03相同,不同之处在于残基226(A→G)和残基228(A→G)的两个核苷酸交换,导致在台湾人中,第52位(异亮氨酸→缬氨酸)有一个氨基酸取代。台湾人可能与B?51:39相关的HLA单倍型可以推导为A?02-B?51:39-DRB1?15和A?11-B? 51:39-DRB1?15。结论我们在此报告的与低发生率B?13:50和B?51:39等位基因相关的推导HLA单倍型信息对于HLA测试实验室具有参考价值,对于干细胞移植供体搜索协调员而言也很有价值。对于携带这两种罕见的HLA等位基因的患者,在无关的骨髓供体注册表中找到兼容的供体的可能性。

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