一例c.374+5G>A合并c.467C>T基因突变的Ael.04亚型患者血清学与分子生物学特征分析*

doi:10.3969/j.issn.1671-2587.2026.01.021

临床输血与检验 ›› 2026, Vol. 28 ›› Issue (1): 136-140.DOI: 10.3969/j.issn.1671-2587.2026.01.021

一例c.374+5G>A合并c.467C>T基因突变的Ael.04亚型患者血清学与分子生物学特征分析^*

阮诗洁^1,2, 谭满玉², 熊燕², 伍昌林^1,3

¹广东医科大学，广东湛江 524023;
²惠州市中心人民医院输血科，广东惠州 516001;
³深圳市第二人民医院输血科，广东深圳 518035

收稿日期:2025-06-11 发布日期:2026-02-13
通讯作者: 伍昌林，主要从事免疫血液学研究，（E-mail）wuchlin@126.com。
作者简介:阮诗洁，主要从事临床检验诊断学研究，（E-mail）1600633470@qq.com。
基金资助:
*本课题受广东省深圳市科技计划项目（No.JCYJ20240813141121029）资助

Analysis of Serological and Molecular Biological Characteristics in a Ael.04 Subtype Patient Carrying c.374+5G>A Combined with c.467C>T Gene Mutations

RUAN Shijie^1,2, TAN Manyu², XIONG Yan², WU Changlin^1,3

¹Guangdong Medical University, Zhanjiang 524023;
²Department of Blood Transfusion, Huizhou Central People's Hospital, Huizhou 516001;
³Department of Blood Transfusion, Shenzhen Second People's Hospital, Shenzhen 518035

Received:2025-06-11 Published:2026-02-13

摘要/Abstract

摘要： 目的研究分析1例ABO疑难血型患者的血型血清学和分子生物学特征，为此类患者的临床输血提供输注建议。方法采用血清学方法鉴定ABO血型，用吸收放散试验做进一步血清学检测，再利用基因测序技术分析样本ABO基因序列。结果患者ABO血清学实验呈现正反定型不一致;吸收放散试验检测出弱A抗原;基因测序显示其携带c.374+5G>A基因突变，且c.374+5G>A合并c.467C>T基因突变在ISBT数据库中为首次发现。结论基因测序技术有助于解析疑难血型的分子生物学基础，并为输血安全和实现精准输血提供循证学重要价值。

关键词: ABO疑难血型, 基因测序, ABO*AEL.04基因型

Abstract: Objective To investigate a case of ABO difficult blood group patient for serological and molecular biological characteristics, and provide transfusion recommendations for the clinical transfusion in the patients. Methods The ABO blood group was identified by serological method, further serological detection was conducted by absorption-elution test, and the ABO gene sequence was analyzed by gene sequencing technology. Results The patient's ABO serological test showed inconsistent in forward and reverse typing; weak A antigen was detected by absorption-elution test; gene sequencing revealed that it carried the c.374+5G>A gene mutation, and the c.374+5G>A combined with c.467C>T gene mutations were found for the first time in the ISBT database. Conclusion Gene sequencing technology helped to elucidate the molecular biological basis of difficult blood groups, and provided evidence-based significant value for transfusion safety and the implementation of precision transfusion.

Key words: ABO difficult blood group, Gene sequencing, ABO*AEL.04 genotype

中图分类号:

R457.1

阮诗洁, 谭满玉, 熊燕, 伍昌林. 一例c.374+5G>A合并c.467C>T基因突变的Ael.04亚型患者血清学与分子生物学特征分析^*[J]. 临床输血与检验, 2026, 28(1): 136-140.

RUAN Shijie, TAN Manyu, XIONG Yan, WU Changlin. Analysis of Serological and Molecular Biological Characteristics in a Ael.04 Subtype Patient Carrying c.374+5G>A Combined with c.467C>T Gene Mutations[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2026, 28(1): 136-140.

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一例c.374+5G>A合并c.467C>T基因突变的Ael.04亚型患者血清学与分子生物学特征分析^*

Analysis of Serological and Molecular Biological Characteristics in a Ael.04 Subtype Patient Carrying c.374+5G>A Combined with c.467C>T Gene Mutations

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