4例A抗原表达减弱样本的血清学特点及基因序列分析*

doi:10.3969/j.issn.1671-2587.2025.02.007

临床输血与检验 ›› 2025, Vol. 27 ›› Issue (2): 186-190.DOI: 10.3969/j.issn.1671-2587.2025.02.007

4例A抗原表达减弱样本的血清学特点及基因序列分析^*

田稳, 徐宁, 吴天鸽, 史鸣昊, 李峣, 裴笑仙, 于娜

吉林大学第二医院输血科,吉林长春 130022

收稿日期:2024-12-11 出版日期:2025-04-20 发布日期:2025-04-17
通讯作者: 于娜,主要从事输血医学和血液成分输注研究,（E-mail）215059362@qq.com。
作者简介:田稳,主要从事输血医学和疑难血型检测研究,（E-mail）31462301@qq.com。
基金资助:
*本课题受吉林省科技发展计划项目（No.20240401068YY）、中国高校产学研创新基金（No.2023JQ011）资助

Serological and Gene Sequence Analysis of Weakened A Antigen in Four Cases

TIAN Wen, XU Ning, WU Tiange, SHI Minghao, LI Yao, PEI Xiaoxian, YU Na

Blood Transfusion Department, The Second Hospital of Jilin University, Changchun 130022

Received:2024-12-11 Online:2025-04-20 Published:2025-04-17

摘要/Abstract

摘要： 目的对4例ABO血型正、反定型不符的样本进行血清学检测和基因序列分析,为患者的血型做出准确判断。方法血清学方法检测疑似A亚型的样本,对样本基因序列进行Sanger双向测序,软件分析对比,应用血清学联合基因检测分析基因型和表型。结果 4例样本中2例基因序列分别与ABO*AEL.08/ABO*O.01.01和ABO*AEL.03/ABO*B.02相符,表型为A_el型;1例基因序列符合ABO*AW.37/ABO*B.01,表型为A_weakB型;1例在外显子6上发生287G>T杂合突变,在ISBT数据库中未检索到此突变,怀疑是发生在ABO*A1.02链上新的突变位点。结论血清学联合分子生物学检测可对正、反定型不符的样本做出进一步判断,从而保障临床患者输血安全、有效。本文所总结的A抗原表达减弱样本的血清学特点和基因序列分析结果可为A亚型的鉴定提供数据支持。

关键词: 弱A抗原, A亚型, 基因位点突变, 分子测序

Abstract: Objective Serological and gene sequencing methods were performed on 4 samples with the ABO discrepancy to accurately determine blood type. Methods Samples suspected of subtype A detected by serological testing were subjected to Sanger bidirectional sequencing, and the genotypes and phenotypes were analyzed via software-assisted analysis and comparison. Results The gene sequence of two out of four samples was consistent with ABO*AEL.08/ABO*O.01.01 and ABO*AEL.03/ABO*B.02, respectively, both exhibiting the A_el phenotype. One sample was identified as ABO*AW.37/ABO*B.01, corresponding to the A_weakB type. A heterozygous mutation of 287G>T was detected in exon 6 in one case. This mutation is not documented in the ISBT database and is suspected to represent a novel mutation site on the ABO*A1.02 allele. Conclusion Serology in conjunction with molecular biological detection can facilitate a more accurate assessment of samples that exhibit ABO discrepancy to ensure the safety and efficacy of blood transfusions. The serological characteristics and gene sequence analysis of samples with diminished A antigen expression, can provide valuable data support for the identification of subtype A.

Key words: Weak A antigen, A subtype, Gene locus mutation, Molecular sequencing

中图分类号:

R446.11Q78

田稳, 徐宁, 吴天鸽, 史鸣昊, 李峣, 裴笑仙, 于娜. 4例A抗原表达减弱样本的血清学特点及基因序列分析^*[J]. 临床输血与检验, 2025, 27(2): 186-190.

TIAN Wen, XU Ning, WU Tiange, SHI Minghao, LI Yao, PEI Xiaoxian, YU Na. Serological and Gene Sequence Analysis of Weakened A Antigen in Four Cases[J]. JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE, 2025, 27(2): 186-190.

参考文献

[1] BERTSCH T,LÜDECKE J,ANTL W,et al. Karl Landsteiner:the discovery of the ABO blood group system and its value for teaching medical students[J]. Clin Lab,2019,65(6).
[2] 闫玉珠,赵和平,于燕. Bx02等位基因的鉴定及其编码GTB酶3D建模[J]. 中国输血杂志,2022,35(8):817-821.
[3] JAIN A,GUPTA A,MALHOTRA S,et al.An ABO blood grouping discrepancy:Probable B(A) phenotype[J]. Transfus Apher Sci,2017,56(3):459-460.
[4] 谢霞,张勇萍,杨世明,等. 13例高球蛋白血症对ABO血型鉴定和交叉配血结果的干扰及处理方法[J]. 细胞与分子免疫学杂志,2017,33(6):835-837.
[5] 霍琳红,谭莉莎,赵薇,等. 多发性骨髓瘤患者输血相容性检测结果及其干扰因素的处理措施[J]. 临床血液学杂志, 2024,37(6):380-383.
[6] 韦庆成,隆耀清,黄波泰. 多发性骨髓瘤患者ABO血型鉴定及交叉配血影响及对策[J]. 中国医学工程,2021, 29(12):31-34.
[7] ADZAHAR S,DAUD A,RAZAK S M A,et al. ABO discrepancy in a patient with plasma cell myeloma[J]. Cureus,2024,16(8):e67096.
[8] MISHRA D,RAY G,MAHAPATRA S,et al.ABO typing error resolution and transfusion support in a case of an acute leukemia patient showing loss of antigen expression[J]. Cancer Transl Med,2019,5(4):80.
[9] JOSHI S,SAVALIYA K,RAJAPARA M,et al.Anomalous blood grouping showing red cell mosaicism in a patient with acute leukemia[J]. Glob J Transfus Med,2018,3(1):59.
[10] 赵亚玲,张媛媛,邵伟,等. AB血型个体ABO抗原减弱的原因与探讨[J].临床输血与检验,2025,27(1):76-82.
[11] THAKUR S K,SINGH S,NEGI D K,et al.Phenotype,allele and genotype frequency distribution of ABO and Rh(D) blood group among blood donors attending regional blood transfusion centre in Delhi,India[J]. Bioinformation,2023,19(4):385-391.
[12] WOLDU B,MELKU M,SHIFERAW E,et al.Phenotype,allele and genotype frequency of ABO and Rhesus D blood groups of blood donors at the north Gondar district blood bank,northwest Ethiopia[J]. J Blood Med,2022,13:11-19.
[13] CHAURASIA R,ROUT D,DOGRA K,et al.Discrepancy in blood grouping:subgroups of B-challenges and dilemma[J]. Indian J Hematol Blood Transfus, 2017,33(4):628-629.
[14] 孙岩,王晓宁,李静,等. 1例A₃B亚型的血清学和分子生物学结果分析及家系调查[J]. 临床输血与检验,2023,25(6):848-852.
[15] 许志远,李晓菲,刘婷婷,等. 4例ABO和Rh血型嵌合体的血清学及分子生物学基础研究[J]. 临床输血与检验,2023,25(3):342-348.
[16] YU L,HE Y L,XU D Y,et al.A novel c.28 + 1G＞T mutation in the ABO*A1.02 allele that results in A_el phenotype[J]. Transfusion,2021,61(6):E44-E45.
[17] XU Y T,KONG X X,WANG C W,et al.Application value of blood types gene detection in blood transfusion of patients with ABO blood type identification difficulty[J]. Indian J Pharml Sci, 2021, 83(4): 62-65.
[18] SHEN Y Q,YANG X J,LU C J,et al.c.586T>C mutation on the ABO*A1.02 allele responsible for A_el phenotype[J]. Transfusion,2022,62(6):E27-E29.
[19] 中华人民共和国卫生部医政司. 全国临床检验操作规程[M]. 南京: 东南大学出版社, 2006: 262-264.
[20] 李小燕,李龚琼,曾选. A^el亚型个体的分子机制研究——附1例A^el亚型鉴定[J]. 中国输血杂志,2020,33(10):1051-1054.
[21] DATTA S S.Transfusion management in a bleeding patient with rare H-deficient blood group variant[J]. Indian J Hematol Blood Transfus, 2023,39(3):508-509.
[22] MENY G M.Recognizing and resolving ABO discrepancies[J]. Immunohematology,2017,33(2):76-81.
[23] PRAKASH S,MOHAPATRA S,BHAGAVATHI M S,et al.Loss and reappearance of A antigen after chemotherapy leading to blood group discrepancy in acute myeloid leukemia:a case report[J]. Lab Med,2021,52(5):509-513.
[24] HAN J H,LEE H,KIM J K,et al.Clinical significance of decreased or loss of ABO blood group expression in acute myeloid leukaemia:a single-centre retrospective study[J]. Vox Sang,2024,119(4):353-362.
[25] QIAN Y F,CHEN H P,REN G F.Acute therapy-related myelodysplastic syndromes following capecitabine and oxaliplatin therapy in gastric malignant tumor:a case report[J]. Medicine (Baltimore),2024,103(30):e39049.
[26] WANG Z,CHU Y S,XIAO Y L,et al.Detecting serologically difficult ABO blood groups using single-molecule real-time sequencing technology[J]. Vox Sang,2024,119(10):1096-1105.
[27] SELTSAM A,DAS GUPTA C,BADE-DOEDING C,et al.A weak blood group A phenotype caused by a translation-initiator mutation in the ABO gene[J]. Transfusion,2006,46(3):434-440.
[28] 曾一梅,雷航,王钰箐,等. 1,3-D-半乳糖基转移酶p. Arg187Cys突变导致形成ABx亚型[J]. 临床输血与检验, 2021,23(1):41-45.
[29] JIN Y G,CHEN T,ZHENG W,et al.Generation of hiPSCs with ABO c.767T>C substitution:resulting in splicing variants[J]. Front Genet,2023,14:1141756.
[30] 李小薇,李慧敏,宁义平,等. B等位基因新突变导致B抗原弱表达1例[J]. 临床输血与检验,2022,24(5):643-646.
[31] 林秋燕. 糖基转移酶GTA、GTB、FUT1基因突变与ABO血型抗原减弱相关性及部分机制研究[D]. 福州:福建医科大学,2020.
[32] 冯强,冯晨晨,张月香,等. AW.37/B.01亚型孕妇家系调查及新生儿血型鉴定探讨[J]. 中国输血杂志,2020, 33(12):1223-1225.
[33] 周宇,牛长春,廖璞,等. 1例ABO疑难血型的鉴定与临床疑难输血探讨[J]. 检验医学与临床,2024,21(3):426-429.

4例A抗原表达减弱样本的血清学特点及基因序列分析^*

Serological and Gene Sequence Analysis of Weakened A Antigen in Four Cases

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