【摘要】 目的 对中国造血干细胞捐献者资料库(CMDP)陕西分库入库分型检测的无输血史先证者进行人类白细胞抗原(HLA)核苷酸序列分析，采用第二代测序(NGS)法确认新等位基因。方法 采用聚合酶链反应测序分型(PCR-SBT)技术对CMDP陕西分库入库1例27岁陕西籍男性样本进行HLA常规分型检测。对未能分辨的结果使用NGS方法进行测序确认。结果 先证者基因SBT和NGS分型结果均显示在第3外显子有3处碱基改变，分别为489位置A>G、497位置C>T、506位置A>G。造成3个密码子的改变，第139密码子由GCA>GCG(Ala)，第142密码子由ACC>ATC(Thr>Ile)，第145位密码子由CAC>CGC(His>Arg)，导致了2个氨基酸的变化。提示疑似新等位基因，将测序结果提交Genbank得到的Bankit ID及相关数据上报给世界卫生组织(WHO) HLA因子命名委员会。结论 确认一个新的HLA-A等位基因，2023年2月28日被WHO HLA因子命名委员会正式命名为HLA-A*02:948。更多还原

【Abstract】 Objective To perform nucleotide sequence analysis of the human leukocyte antigen(HLA) gene on a proband without transfusion history enrolled in the China Marrow Donor Program(CMDP) Shaanxi Branch Centre. The analysis aimed to confirm a novel HLA allele using next-generation sequencing(NGS). Methods Routine HLA typing of samples from a 27-yeardd male of the CMDP Shaanxi Branch Centre was performed using polymerase chain reaction sequence-based typing(PCR-SBT). Undetermined results were confirmed by NGS sequencing. Results Both sequence-based typing(SBT) and NGS typing for the proband revealed three nucleotide substitutions in exon 3: A>G at position 489, C>T at position 497, and A>G at position 506. These substitutions resulted in three codon changes: codon 139 changed from GCA to GCG(Ala), codon 142 changed from ACC to ATC(Thr>Ile), and codon 145 changed from CAC to CGC(His>Arg), leading to changes in two amino acid residues. These findings suggested a potential novel HLA allele. The sequencing results were submitted to the World Health Organization(WHO) HLA Nomenclature Committee. Conclusions A novel HLA-A allele is identified and formally designated HLA-A*02:948 by the WHO HLA Nomenclature Committee on February 28, 2023.更多还原