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一种新型HLA - DRB1等位基因DRB1*0830*的鉴定与特征分析

Identification and characterization of a novel HLA-DRB1 allele, DRB1*0830*.

作者信息

Hoppe B, Heymann G A, Kiesewetter H, Salama A

机构信息

Institute of Transfusion Medicine, Campus Virchow-Klinikum, Charité-Universitätsmedizin Berlin, Berlin, Germany.

出版信息

Tissue Antigens. 2005 Aug;66(2):160-2. doi: 10.1111/j.1399-0039.2005.00431.x.

DOI:10.1111/j.1399-0039.2005.00431.x
PMID:16029441
Abstract

Here, we report on the identification and characterization of a novel human leukocyte antigen (HLA) DRB1 allele, DRB10830. This allele was identified in a candidate for hematopoietic stem cell donation. While the DNA sequence of HLA-DRB10830 most closely matches to DRB1080202, its amino acid sequence resembles DRB1080202 and DRB1*0813. Due to a substitution at nucleotide position 286 HLA-typing using sequence-specific oligonucleotide hybridization or amplification using sequence-specific primers gave inconclusive results. Allele-specific DNA sequencing confirmed a 286 T-->A substitution resulting in Phe67Ile.

摘要

在此,我们报告一种新型人类白细胞抗原(HLA)DRB1等位基因DRB10830的鉴定与特征。该等位基因是在一名造血干细胞捐献候选者中鉴定出来的。虽然HLA-DRB10830的DNA序列与DRB1080202最为匹配,但其氨基酸序列与DRB1080202和DRB1*0813相似。由于核苷酸位置286处的替换,使用序列特异性寡核苷酸杂交进行HLA分型或使用序列特异性引物进行扩增均得到不确定结果。等位基因特异性DNA测序证实了286位的T→A替换,导致苯丙氨酸67变为异亮氨酸。

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