[1]刘 晟,王小芳,齐 珺.WHOHLA因子委员会命名新等位基因HLA-A*02:948的发现和鉴定[J].现代检验医学杂志,2026,41(03):61-64.[doi:10.3969/j.issn.1671-7414.2026.03.011]
　LIU Sheng,WANG Xiaofang,QI Jun.Identification and Characterization of A Novel Allele Officially Named HLA-A*02:948 by the WHO HLA Nomenclature Committee[J].Journal of Modern Laboratory Medicine,2026,41(03):61-64.[doi:10.3969/j.issn.1671-7414.2026.03.011]
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WHOHLA因子委员会命名新等位基因HLA-A*02:948的发现和鉴定()

《现代检验医学杂志》[ISSN:/CN:]

卷:
第41卷
期数:
2026年03期
页码:
61-64
栏目:
论著
出版日期:
2026-05-13

文章信息/Info

Title:
Identification and Characterization of A Novel Allele Officially Named HLA-A*02:948 by the WHO HLA Nomenclature Committee
文章编号:
1671-7414（2026）03-061-04
作者:
刘 晟，王小芳，齐 珺
陕西省血液中心血检科，西安 710061
Author(s):
LIU Sheng，WANG Xiaofang，QI Jun
Department of Clinical Laboratory, Shaanxi Provincial Blood Center, Xi’an 710061, China
关键词:
人类白细胞抗原; 新等位基因; 基因测序; 第二代测序; 人类白细胞抗原-A*02:948
分类号:
R457；Q786
DOI:
10.3969/j.issn.1671-7414.2026.03.011
文献标志码:
A
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BankitID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WHOHLA因子命名委员会正式命名为HLA-A*02:948。
Abstract:
Objective To perform nucleotide sequence analysis of the human leukocyte antigen (HLA) gene on a proband with-out 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-year-dd 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.

参考文献/References:

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备注/Memo

备注/Memo:
作者简介：刘晟（1978-），女，硕士，副主任技师，主要研究方向：输血医学，免疫血液学，E-mail：812265722@qq.com。
更新日期/Last Update: 2026-05-15