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通过对台湾非亲属骨髓造血干细胞供者进行病例分析得出的可能与HLA-C*07:359相关的人类白细胞抗原单倍型。

Deduced probable HLA-C*07:359-associated human leukocyte antigen haplotypes found by case analysis of Taiwanese unrelated bone marrow hematopoietic stem cell donors.

作者信息

Yang Kuo-Liang

机构信息

Laboratory of Immunogenetics, Tzu Chi Cord Blood Bank and Buddhist Tzu Chi Marrow Donor Registry, Buddhist Tzu Chi Stem Cells Centre, Hualien Tzu Chi Hospital, Hualien, Taiwan.

Department of Laboratory Medicine, Buddhist Tzu Chi University, Hualien, Taiwan.

出版信息

Tzu Chi Med J. 2016 Apr-Jun;28(2):59-62. doi: 10.1016/j.tcmj.2016.04.004. Epub 2016 May 27.

DOI:10.1016/j.tcmj.2016.04.004
PMID:28757723
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5442894/
Abstract

OBJECTIVES

HLA-C07:359 is a low-incidence allele in the human leukocyte antigen (HLA)-C locus. The objective of this study is to report the ethnicity and haplotypes of HLA-C07:359 that were found during an analysis of Taiwanese unrelated bone marrow hematopoietic stem cell donors.

MATERIALS AND METHODS

A sequence-based typing method was employed to confirm low-incidence al-leles. Polymerase chain reaction was performed to amplify exon 2 and exon 3 of the HLA-A, HLA-B, and HLA-C loci, as well as exon 2 of the HLA-DRB1 locus, using group-specific primer sets. The amplicons were sequenced in both directions using BigDye Terminator Cycle Sequencing Ready Reaction kits, according to the manufacturer's protocols. The potential unrelated bone marrow stem cell donors investigated here are individuals with Taiwanese ethnicity who are participating in the Tzu Chi Bone Marrow Donor Registry.

RESULTS

The DNA sequence of C07:359 is identical to that of C07:02:01:01 in exons 2, 3, and 4 except at residue 862, where the G of C07:02:01:01 is substituted by the A of C07:359. The nucleotide exchange leads to an amino acid replacement at codon 264, where the glutamic acid of C07:02:01:01 is replaced by the lysine of C07:359. We deduced a probable HLA-B and HLA-C haplotype that is associated with C07:359 in Taiwanese, namely B39-C*07:359.

CONCLUSION

Information on the ethnicity of the C07:359 allele and its deduced probable HLA haplotypes that are associated with the low-incidence C07:359 allele reported here are of value to HLA testing laboratories for reference purposes. In addition, they can be used by stem cell transplantation donor search coordinators to determine a strategy for finding compatible donors using unrelated bone marrow donor registries when patients carry this uncommon HLA allele.

摘要

目的

HLA - C07:359是人类白细胞抗原(HLA)- C基因座中的一个低发生率等位基因。本研究的目的是报告在对台湾非亲属骨髓造血干细胞供者进行分析时发现的HLA - C07:359的种族及单倍型情况。

材料与方法

采用基于序列的分型方法来确认低发生率等位基因。使用组特异性引物对,通过聚合酶链反应扩增HLA - A、HLA - B和HLA - C基因座的外显子2和外显子3,以及HLA - DRB1基因座的外显子2。根据制造商的方案,使用BigDye Terminator循环测序预混试剂盒对扩增产物进行双向测序。这里所研究的潜在非亲属骨髓干细胞供者是参与慈济骨髓捐赠登记处的台湾种族个体。

结果

C07:359的DNA序列在第2、3和4外显子上与C07:02:01:01相同,除了在第862位残基处,C07:02:01:01的G被C07:359的A取代。该核苷酸交换导致第264位密码子处的氨基酸替换,C07:02:01:01的谷氨酸被C07:359的赖氨酸取代。我们推导了一种可能与台湾人中的C07:359相关的HLA - B和HLA - C单倍型,即B39 - C*07:359。

结论

本文报告的C07:359等位基因的种族信息及其推导的可能与低发生率C07:359等位基因相关的HLA单倍型,对HLA检测实验室具有参考价值。此外,当患者携带这种罕见的HLA等位基因时,干细胞移植供者搜索协调员可利用这些信息确定使用非亲属骨髓供者登记处寻找匹配供者的策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b17d/5442894/de1573d00a23/TCMJ-28-59-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b17d/5442894/de1573d00a23/TCMJ-28-59-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b17d/5442894/de1573d00a23/TCMJ-28-59-g001.jpg

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Identification of a novel DRB1 allele through intergenic recombination between HLA-DRB1 and HLA-DRB3∗02 in a Chinese family.在中国一个家族中通过 HLA-DRB1 和 HLA-DRB3∗02 基因间重组鉴定出一个新的 DRB1 等位基因。
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在一位台湾非亲缘骨髓干细胞供者中发现 HLA-A*24:137 等位基因,以及与 A*24:137 相关的可能 HLA 单倍型。
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