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学科主题基础医学
Identification of a novel DRB1 allele through intergenic recombination between HLA-DRB1 and HLA-DRB3*02 in a Chinese family
Huang, Weijin1; Liu, Xiangjun3; Li, Erwei4; Zhao, Chenyan2; Liu, Qiang2; Liang, Zhenglun2; Wang, Youchun2; Lu, Fengmin1
刊名HUMAN IMMUNOLOGY
2013-12-01
DOI10.1016/j.humimm.2013.07.013
74期:12页:1603-1609
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Immunology
研究领域[WOS]Immunology
关键词[WOS]GROUP-SPECIFIC AMPLIFICATION ; CLASS-I MOLECULES ; IMGT/HLA DATABASE ; GENE CONVERSION ; HLA-B ; MHC ; SEQUENCES ; LOCI ; FREQUENCIES ; DIVERSITY
英文摘要

In this study, a novel DRB1 allele was revealed by routine HLA-SBT typing noted for its extensive mismatches to any known DRB1 alleles within the exon 2. Sequences containing the exons 2, 3 of HLA-DRB1, their surrounding introns, and the full-length cDNA of DRB1 were analyzed to determine a possible recombination event. Interestingly, the sequences of entire exon 2 were characterized as DRB3*02:02:01:01/02; while exon 3 were characterized as DRB1*14 like alleles. Further analysis of the sequences using Simplot software suggested that an intergenic recombinant event (i.e. exchange of sequence between non-allelic genes) may have occurred between DRB3*02 allele and DRB1*14 like allele, and the recombination sites are located at intron 1 and the boundary of exon 2 and intron 2 of DRB1. There are 5 CGGGG sequences flanking each side of exon 2 could serve as potential recombination site. Moreover, the full-length cDNA of the novel allele has been identified. The exon 1 and exon 3 to exon 6 share the same sequence as DRB1*14 like alleles. At the mRNA level, the new allele has no significant difference when compared with the other DRB1 allele. This novel recombinant allele is also found to be paternally inherited. In conclusion, this is the first report of a DRB1 and DRB3 intergenic recombination event involving whole exon 2, which generate a new DRB1*14:141. (C) 2013 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

语种英语
WOS记录号WOS:000328014800017
项目编号2012ZX10004701-001
资助机构National Science and Technology Major Project
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64283
专题北京大学基础医学院_病原生物学系
北京大学第二临床医学院_骨关节科
作者单位1.Beijing Bo Fu Rui Gene Diagnost LTD, Beijing 100176, Peoples R China
2.Peking Univ, Hlth Sci Ctr, Dept Microbiol, Beijing 100191, Peoples R China
3.Natl Inst Food & Drug Control, Minist Hlth Res Qual & Standardizat Biotech Prod, Div HIV AIDS & Sex Transmitted Virus Vaccines, Key Lab, Beijing 100050, Peoples R China
4.Kaifeng Cty Ctr Dis Control & Prevent Kaifeng, Kaifeng 475100, Henan Province, Peoples R China
推荐引用方式
GB/T 7714
Huang, Weijin,Liu, Xiangjun,Li, Erwei,et al. Identification of a novel DRB1 allele through intergenic recombination between HLA-DRB1 and HLA-DRB3*02 in a Chinese family[J]. HUMAN IMMUNOLOGY,2013,74(12):1603-1609.
APA Huang, Weijin.,Liu, Xiangjun.,Li, Erwei.,Zhao, Chenyan.,Liu, Qiang.,...&Lu, Fengmin.(2013).Identification of a novel DRB1 allele through intergenic recombination between HLA-DRB1 and HLA-DRB3*02 in a Chinese family.HUMAN IMMUNOLOGY,74(12),1603-1609.
MLA Huang, Weijin,et al."Identification of a novel DRB1 allele through intergenic recombination between HLA-DRB1 and HLA-DRB3*02 in a Chinese family".HUMAN IMMUNOLOGY 74.12(2013):1603-1609.
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