The deduced probable HLA-C*03:187-associated human leukocyte antigen haplotype (A*24:02-B*35:01-C*03:187-DRB1*11:01) revealed in Taiwanese unrelated hematopoietic bone marrow stem cell donors.

Ci ji yi xue za zhi = Tzu-chi medical journal Pub Date : 2019-09-30 eCollection Date: 2020-07-01 DOI:10.4103/tcmj.tcmj_106_19
Kuo-Liang Yang, Py-Yu Lin
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引用次数: 0

Abstract

Objective: HLA-C*03:187 is a rare frequency allele in the human leukocyte antigen (HLA)-C locus. The purpose of this investigation is to indicate the ethnicity of C*03:187 and its deduced plausible HLA haplotype in association in Taiwanese unrelated bone marrow stem cell donors.

Materials and methods: A DNA sequence-based typing procedure was used to verify the rare frequency allele C*03:187. Employing group-specific primer sets' polymerase chain reaction was carried out to amplify exons 2 and 3 of HLA-A locus, HLA-B locus, exon 1 to exon 7 of the HLA-C locus, and exon 2 of the HLA-DRB1 locus. The amplified gene products were sequenced employing the BigDye® Terminator Cycle Sequencing Ready Reaction kits in both directions according to the manufacturer's instructions.

Results: The DNA sequence of C*03:187 is identical to C*03:03:01:01 from exon 1 to exon 7, except for codon 152 of exon 3 where GAG of C*03:03:01:01 is replaced by GTG in C*03:187. The nucleotide replacement causes one amino acid change to the protein sequence of C*03:03:01:01 at position 152 where glutamic acid (E) is changed to a valine (V) in C*03:187. The deduced plausible HLA haplotype in association with C*03:187 in Taiwanese is as A*24:02-B*35:01-C*03:187-DRB1*11:01.

Conclusion: The data on the deduced plausible HLA haplotype in association with the low-frequency C*03:187 allele that we described in this report are valuable for immunogenetics laboratories for reference purposes. In addition, they can be utilized by search coordinators in hematopoietic stem cell transplant programs to determine a strategy for locating compatible donors in unrelated bone marrow donor registries for a patient with this unusual HLA allele.

Abstract Image

在台湾非亲缘造血骨髓干细胞捐献者中发现的可能与 HLA-C*03:187 相关的人类白细胞抗原单倍型 (A*24:02-B*35:01-C*03:187-DRB1*11:01)。
目的:HLA-C*03:187是人类白细胞抗原(HLA)-C位点上的一个罕见等位基因。本研究的目的是揭示 C*03:187 的人种性及其推断的可信 HLA 单倍型在台湾非亲缘骨髓干细胞捐献者中的关联性:采用基于DNA序列的分型程序来验证罕见频率等位基因C*03:187。聚合酶链反应扩增 HLA-A 基因座的 2 号和 3 号外显子、HLA-B 基因座、HLA-C 基因座的 1 号至 7 号外显子以及 HLA-DRB1 基因座的 2 号外显子。扩增的基因产物按照生产商的说明使用 BigDye® Terminator Cycle Sequencing Ready Reaction 试剂盒进行双向测序:C*03:187的DNA序列从外显子1到外显子7与C*03:03:01:01相同,除了外显子3的密码子152,C*03:03:01:01的GAG在C*03:187中被GTG取代。核苷酸替换导致 C*03:03:01:01 蛋白序列在第 152 位的一个氨基酸发生变化,即 C*03:187 中的谷氨酸(E)变为缬氨酸(V)。台湾人与 C*03:187 相关的 HLA 单倍型推断为 A*24:02-B*35:01-C*03:187-DRB1*11:01:本报告中描述的与低频 C*03:187 等位基因相关的可信 HLA 单倍型推断数据对免疫遗传学实验室具有参考价值。此外,造血干细胞移植项目的搜索协调员也可以利用这些数据,为具有这种不寻常 HLA 等位基因的患者确定在非亲属骨髓捐献者登记册中寻找相合捐献者的策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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