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塞尔维亚人群中 HLA-A、-B、-C、-DRB1 和 -DQB1 等位基因和单倍型频率。

HLA-A, -B, -C, -DRB1 and -DQB1 allele and haplotype frequencies in the Serbian population.

机构信息

Tissue Typing Department, Blood Transfusion Institute of Serbia, Belgrade, Serbia.

Institute of Microbiology and Immunology, School of Medicine, University Belgrade, Belgarde, Serbia.

出版信息

Hum Immunol. 2014 Mar;75(3):218-26. doi: 10.1016/j.humimm.2013.12.009. Epub 2013 Dec 27.

DOI:10.1016/j.humimm.2013.12.009
PMID:24374041
Abstract

This study provides the first published detailed analysis of five loci polymorphisms as well as reports of two, three and five loci haplotype frequencies in the Serbian population in a sample of 1992 volunteer bone marrow donors recruited from different part of the country. Typing was performed by PCR SSO method combined with PCR SSP techniques to resolve ambiguities. In total, 16 HLA-A, 28 HLA-B, 14 HLA-C, 13 HLA-DRB1 and 5 HLA-DQB1 allelic groups were identified. The most frequent in allele groups are HLA-A(∗)02 (29.5%), HLA-A(∗)01 (14.2%), HLA-B(∗)35 (13.1%), HLA-B(∗)51 (12.8%), HLA-C(∗)07 (24.8%), HLA-DRB1(∗)11 (16.9%), HLA-DRB1(∗)13 (13.2%), HLA-DQB1(∗)03 (33.3%) and DQB1(∗)05 (33.0%). The most frequent three- and five-loci haplotypes were A(∗)01-B(∗)08-DRB1(∗)03 (5.9%) and A(∗)02-B(∗)18-DRB1(∗)11 (1.9%), A(∗)01-B(∗)08-C(∗)07-DRB1(∗)03-DQB1(∗)02 (6.6%) followed by A(∗)02-B(∗)18-C(∗)07-DRB1(∗)11-DQB1(∗)03 (2.5%), then A(∗)33-B(∗)14-C(∗)08-DRB1(∗)01-DQB1(∗)05 and A(∗)02-B(∗)35-C(∗)04-DRB1(∗)16-DQB1(∗)05 (2.2% both), respectively. The results of cluster analysis showed that the Serbian population is closely related to the populations living in central Balkan and neighboring European regions. The level of allelic diversity found in this study are relevant to facilitate searching for unrelated matched donor and provide a healthy control population from our region that should be useful in the future disease association study.

摘要

这项研究首次对来自塞尔维亚的 1992 名志愿者骨髓捐献者样本中的 5 个基因座多态性进行了详细分析,并报告了 2、3 和 5 个基因座单体型频率。通过 PCR SSO 方法结合 PCR SSP 技术进行分型,以解决歧义。总共确定了 16 个 HLA-A、28 个 HLA-B、14 个 HLA-C、13 个 HLA-DRB1 和 5 个 HLA-DQB1 等位基因组。在等位基因组中最常见的是 HLA-A(∗)02(29.5%)、HLA-A(∗)01(14.2%)、HLA-B(∗)35(13.1%)、HLA-B(∗)51(12.8%)、HLA-C(∗)07(24.8%)、HLA-DRB1(∗)11(16.9%)、HLA-DRB1(∗)13(13.2%)、HLA-DQB1(∗)03(33.3%)和 DQB1(∗)05(33.0%)。最常见的三种和五种单体型是 A(∗)01-B(∗)08-DRB1(∗)03(5.9%)和 A(∗)02-B(∗)18-DRB1(∗)11(1.9%),A(∗)01-B(∗)08-C(∗)07-DRB1(∗)03-DQB1(∗)02(6.6%),其次是 A(∗)02-B(∗)18-C(∗)07-DRB1(∗)11-DQB1(∗)03(2.5%),然后是 A(∗)33-B(∗)14-C(∗)08-DRB1(∗)01-DQB1(∗)05 和 A(∗)02-B(∗)35-C(∗)04-DRB1(∗)16-DQB1(∗)05(均为 2.2%)。聚类分析结果表明,塞尔维亚人群与巴尔干中部和邻近欧洲地区的人群密切相关。本研究发现的等位基因多样性水平有助于寻找无关匹配的供体,并为我们地区提供健康的对照人群,这在未来的疾病关联研究中应该是有用的。

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