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基于中国江苏省 167 个家系的高分辨率基因分型,分析人类白细胞抗原-A、-B 和-DRB1 等位基因和单倍型的分布。

The distribution of human leukocyte antigen-A, -B, and -DRB1 alleles and haplotypes based on high-resolution genotyping of 167 families from Jiangsu Province, China.

机构信息

HLA Laboratory, First Affiliated Hospital with Nanjing Medical University, Nanjing, China.

出版信息

Hum Immunol. 2011 Oct;72(10):872-6. doi: 10.1016/j.humimm.2011.06.006. Epub 2011 Jul 1.

DOI:10.1016/j.humimm.2011.06.006
PMID:21762744
Abstract

We investigated the human leukocyte antigen (HLA)-A, -B, and -DRB1 allele frequencies, the A-B-DRB1, A-B, B-DRB1, and A-DRB1 haplotype frequencies, and the characteristics of linkage disequilibrium between 2 loci in high resolution based on 167 unrelated families from Jiangsu Province, China. A total of 26 alleles at the A locus, 55 alleles at the B locus, and 34 alleles at the DRB1 locus were reported in this study. The top 5 most frequent HLA alleles at the HLA-A, -B, and -DRB1 loci, respectively, were A11:01, A24:02, A02:01, A33:03, A30:01; B13:02, B40:01 B46:01, B58:01, B54:01; DRB109:01, DRB107:01, DRB112:02, DRB115:01, and DRB108:03. Several haplotypes with high frequencies were deduced in this study. The top 3 most common A-B-DRB1 haplotypes observed were A30:01-B13:02-DRB107:01, A33:03-B58:01-DRB103:01, and A02:07-B46:01-DRB109:01. The top 3 most common A-B haplotypes were A30:01-B13:02, A33:03-B58:01, and A02:07-B46:01. The top 4 most common A-DRB1 haplotypes were A30:01-DRB107:01, A33:03-DRB113:02, A24:02-DRB109:01, and A33:03-DRB103:01. Finally, the top 3 most common B-DRB1 haplotypes were B13:02-DRB107:01, B46:01-DRB109:01, and B58:01-DRB103:01. From the linkage disequilibrium calculation, the most prominent associations were A30:01-B13:02, B13:02-DRB107:01, and A01:03-DRB101:02. These allele and haplotype frequencies could be useful for finding the best matched donors for patients in the China Marrow Donor Program Jiangsu Branch.

摘要

我们调查了人类白细胞抗原(HLA)-A、-B 和 -DRB1 等位基因频率、A-B-DRB1、A-B、B-DRB1 和 A-DRB1 单倍型频率以及中国江苏省 167 个无关家庭的 2 个位点之间的连锁不平衡特征。本研究共报道了 A 座 26 个等位基因、B 座 55 个等位基因和 DRB1 座 34 个等位基因。HLA-A、-B 和 -DRB1 位点最常见的前 5 个 HLA 等位基因分别为 A11:01、A24:02、A02:01、A33:03 和 A30:01;B13:02、B40:01、B46:01、B58:01 和 B54:01;DRB109:01、DRB107:01、DRB112:02、DRB115:01 和 DRB108:03。本研究推导出了一些高频单倍型。观察到的前 3 个最常见的 A-B-DRB1 单倍型是 A30:01-B13:02-DRB107:01、A33:03-B58:01-DRB103:01 和 A02:07-B46:01-DRB109:01。前 3 个最常见的 A-B 单倍型是 A30:01-B13:02、A33:03-B58:01 和 A02:07-B46:01。前 4 个最常见的 A-DRB1 单倍型是 A30:01-DRB107:01、A33:03-DRB113:02、A24:02-DRB109:01 和 A33:03-DRB103:01。最后,前 3 个最常见的 B-DRB1 单倍型是 B13:02-DRB107:01、B46:01-DRB109:01 和 B58:01-DRB103:01。从连锁不平衡计算来看,最显著的关联是 A30:01-B13:02、B13:02-DRB107:01 和 A01:03-DRB101:02。这些等位基因和单倍型频率可用于在中国骨髓捐献者江苏分库中为患者寻找最佳匹配供体。

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