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包含DRB6假基因的新HLA-DR单倍型。

New HLA-DR haplotypes containing the DRB6 pseudogene.

作者信息

Salazar M, Granja C B, Selvakumar A, Fresia B, Alosco S, Dupont B, Yunis E J

机构信息

American Red Cross, New England Region, Dedham, Massachusetts, USA.

出版信息

Tissue Antigens. 1996 Nov;48(5):575-9. doi: 10.1111/j.1399-0039.1996.tb02671.x.

Abstract

An unexpected probe reaction pattern was observed in two samples during HLA-DR typing by PCR-Sequence Specific Oligonucleotide Probes. In order to confirm the unusual typings, samples were analyzed by PCR-Sequence Specific Primers, cloning, and nucleotide sequencing of the second exon of the HLA-DRB-genes. The confirmed DR, DQ phenotype for one sample was DRB10701, DRB401, DRB50101, DRB60201, DQB0602, DQB10202. The phenotype of other sample was DRB11602, DRB11302, DRB30301, DRB60101, DQB10501, DQB10502. The first sample has the novel combination of DRB10701 with DRB50101 and DRB60201. The second sample has either DRB60101 together with DRB11602 in absence of any DRB5 allele or DRB60101 together with DRB11302, DRB30301. We postulate that the most likely haplotype in sample #1 is DRB10701; DRB50101, DRB10602 which could have arisen from gene conversion. The most likely haplotype in sample #2, DRB11602, DRB60101, DQB10502 would have arisen from an homologous recombination event.

摘要

在通过聚合酶链反应-序列特异性寡核苷酸探针进行HLA-DR分型时,在两个样本中观察到了意外的探针反应模式。为了确认这些异常分型,通过聚合酶链反应-序列特异性引物、克隆以及对HLA-DRB基因第二外显子进行核苷酸测序对样本进行了分析。一个样本经确认的DR、DQ表型为DRB10701、DRB401、DRB50101、DRB60201、DQB0602、DQB10202。另一个样本的表型为DRB11602、DRB11302、DRB30301、DRB60101、DQB10501、DQB10502。第一个样本具有DRB10701与DRB50101和DRB60201的新组合。第二个样本要么是在没有任何DRB5等位基因的情况下DRB60101与DRB11602同时存在,要么是DRB60101与DRB11302、DRB30301同时存在。我们推测样本1中最可能的单倍型是DRB10701;DRB50101,DRB10602,其可能由基因转换产生。样本2中最可能的单倍型DRB11602、DRB60101、DQB10502可能由同源重组事件产生。

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