1例新等位基因HLA-DRB1*0918的筛查及序列分析

摘要

Objective To understand and confirm the new human leukocyte antigen (HLA) allele and analyze its nucleotide sequence. Methods Using the direct sequencing method of polymerase chain reaction (PCR–SBT), we analyzed 7 500 hematopoietic stem cell donators with HLA-DRB1 high-resolution classification in Yueyang area and found one example appeared close to HLA-DRB1*09:01:02 sequence of new allele. We made confirmation with the sequencing technique SSP sequencing primers which used for DRB1*09 site specificity and verified the its differences from DRB1*09:01:02 sequence. Results The gene in exon 2 compared with DRB1*09:01:02 276 C>A, its mutations can lead to codon AGC>AGA, 63 S(ser)>R(arginine), has been submitted to GenBank, the gene sequence Numbers for 1523488. Conclusion The allele was obtained by the nucleotide sequence analysis of the new HLA-DRB1 allele, which was named as HLA-DRB1*09:18 in May22, 2013 by the World Health Organization (WHO) HLA Nomenclature Committee.%目的：了解和确认人类白细胞抗原（HLA）新等位基因并分析其核苷酸序列。方法采用聚合酶链反应-直接测序技术（PCR-SBT）方法对岳阳地区7500名造血干细胞捐献志愿者进行HLA-DRB1高分辨率分型，发现1个与HLA-DRB1*09：01：02序列相近的新等位基因，采用针对DRB1*09位点特异性SSP引物测序，确认该等位基因与DRB1*09：01：02序列的差异。结果该基因与DRB1*09：01：02相比在第2外显子276位C＞A，其突变导致密码子AGC＞AGA，63位S（丝氨酸）＞R（精氨酸），该基因序列已提交GenBank，编号为1523488。结论该等位基因经过核苷酸序列分析得出其为新的HLA-DRB1等位基因，该基因已于2013年5月22日被世界卫生组织（WHO）HLA命名委员会命名为HLA-DRB1*09：18。