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利用对11423名随机选取的无亲缘关系个体进行高分辨率人类白细胞抗原分型,以确定等位基因变体、推断可能的人类白细胞抗原单倍型,并观察台湾汉族人群中人类白细胞抗原B和C以及人类白细胞抗原DRB1和DQB1等位基因之间的连锁不平衡。

Using high-resolution human leukocyte antigen typing of 11,423 randomized unrelated individuals to determine allelic varieties, deduce probable human leukocyte antigen haplotypes, and observe linkage disequilibria between human leukocyte antigen-B and-C and human leukocyte antigen-DRB1 and-DQB1 alleles in the Taiwanese Chinese population.

作者信息

Yang Kuo-Liang, Chen Hsee-Bin

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. 2017 Apr-Jun;29(2):84-90. doi: 10.4103/tcmj.tcmj_35_17.

Abstract

OBJECTIVE

We report here the human leukocyte antigen (HLA) allelic variety and haplotype composition in a cohort of the Taiwanese Chinese population and their patterns of linkage disequilibria on HLA-B: HLA-C alleles and HLA-DRB1: HLA-DQB1 alleles at a high-resolution level.

MATERIALS AND METHODS

Peripheral whole blood from 11,423 Taiwanese Chinese unrelated individuals was collected in acid citrate dextrose. Genomic DNA was extracted using the QIAamp DNA Blood Mini Kit. The DNA material was subjected to HLA genotyping for HLA-A,-B,-C,-DRB1, and-DQB1 loci using a commercial polymerase chain reaction-sequence-based typing (PCR-SBT) kit, the SeCore A/B/C/DRB1/DQB1 Locus Sequencing kit. High-resolution allelic sequencing was performed as previously described.

RESULTS

The number of individual HLA-B alleles detected was greater than the number of alleles recognized in the both the HLA-A and-DRB1 loci. Several novel alleles were discovered as a result of employing the SBT method and the high number of donors tested. In addition, we observed a genetic polymorphic feature of association between HLA-A and-B, HLA-B and-C, and HLA-DRB1 and-DQB1 alleles. Further, the homozygous haplotype frequencies of HLA-A and-B; HLA-A,-C, and-B; HLA-A,-C,-B, and-DRB1; and HLA-A,-C,-B,-DRB1, and-DQB1 in Taiwanese Chinese population are presented.

CONCLUSION

As increasing number of HLA alleles are being discovered, periodic HLA profile investigation in a given population is essential to recognize the HLA complexity in that population. Population study can also provide an up-to-date strategic plan for future needs in terms of compatibility measurement for HLA matching between transplant donors and patients.

摘要

目的

我们在此报告台湾汉族人群队列中的人类白细胞抗原(HLA)等位基因多样性和单倍型组成,以及它们在高分辨率水平上HLA - B:HLA - C等位基因和HLA - DRB1:HLA - DQB1等位基因的连锁不平衡模式。

材料与方法

采集11423名台湾汉族无关个体的外周全血,置于酸性枸橼酸盐葡萄糖溶液中。使用QIAamp DNA Blood Mini Kit提取基因组DNA。使用商业聚合酶链反应 - 基于序列的分型(PCR - SBT)试剂盒SeCore A/B/C/DRB1/DQB1 Locus Sequencing kit对DNA样本进行HLA - A、-B、-C、-DRB1和 - DQB1位点的基因分型。如前所述进行高分辨率等位基因测序。

结果

检测到的个体HLA - B等位基因数量多于HLA - A和 - DRB1位点中识别出的等位基因数量。由于采用了SBT方法和检测的大量供体,发现了几个新等位基因。此外,我们观察到HLA - A与 - B、HLA - B与 - C以及HLA - DRB1与 - DQB1等位基因之间存在遗传多态性关联特征。此外,还呈现了台湾汉族人群中HLA - A和 - B;HLA - A、-C和 - B;HLA - A、-C、-B和 - DRB1;以及HLA - A、-C、-B、-DRB1和 - DQB1的纯合单倍型频率。

结论

随着越来越多的HLA等位基因被发现,对特定人群进行定期的HLA谱研究对于认识该人群中的HLA复杂性至关重要。人群研究还可以为未来在移植供体与患者之间HLA匹配兼容性测量方面的需求提供最新的战略计划。

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