Journal of Diagnostics Concepts & Practice >

2024 , Vol. 23 >Issue 06: 619 - 623

DOI: https://doi.org/10.16150/j.1671-2870.2024.06.009

Analysis of weak expression of A antigen induced by ABO gene mutation

  • GU Yuwei ,
  • WANG Chengyun ,
  • GU Ping ,
  • PAN Qiuhui ,
  • WANG Jing
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  • Department of Blood Transfusion, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China

Received date: 2024-01-10

  Online published: 2024-08-25

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Abstract

Objective This study aims to perform blood group genotyping on patients with weak antigen expression detected by ABO serology and analyze the causes of weak antigen expression. Methods Serological detection was carried out by the microcolumn gel method. Blood group genotyping was conducted by PCR combined with direct sequencing. The enhancer, promoter, exons 1-7, and adjacent intron regions of the ABO blood group gene in the patients were tested. The software PolyPhen-2 was used to predict the nucleotide function of mutations and to generate a 3D structural model. Results In one male patient, the red blood cells showed weak agglutination with anti-A antibody (2+) and agglutination with anti-B antibody (4+). The patient’s serum showed weak agglutination with A1 cells (2+), and no agglutination with B cells and O cells. The serological phenotype of the ABO blood group was AweakB, with both the direct antiglobulin test and antibody screening test being negative. The results of DNA sequencing showed that there were c.297 A>G mutation in exon 6, and c.526 C>G, c.657 C>T, c.703 G>A, c.796 C>A, c.803 G>C, c.930 G>A and c.940 A>G mutations in exon 7. According to the International Blood Transfusion Association database, the c.940 A>G mutation leads to p.Lys314Glu mutation in the ABO gene-encoded glycosyl transferase A (GTA), resulting in decreased A enzyme activity. The patient’s genotype was ABO*AW.37/B.01. Conclusions In this patient, exon 7 of the ABO blood group gene has a c.940 A>G mutation. This mutation site can change the encoded amino acid, namely p.Lys314Glu, resul-ting in weak expression of A antigen.

Key words： ABO blood group; Genotype; Exon; Weak antigen expression

Cite this article

GU Yuwei , WANG Chengyun , GU Ping , PAN Qiuhui , WANG Jing . Analysis of weak expression of A antigen induced by ABO gene mutation[J]. Journal of Diagnostics Concepts & Practice, 2024 , 23(06) : 619 -623 . DOI: 10.16150/j.1671-2870.2024.06.009

References

[1] TEKGüNDüZ S A, ?ZBEK N. ABO blood group mismatched hematopoietic stem cell transplantation[J]. Transfus Apher Sci, 2016, 54(1):24-29.
[2] 傅启华, 王学锋, 向东. 临床输血学——理论与实践[M]. 上海: 上海交通大学出版社, 2014:219-223
  FU Q H, WANG X F, XIANG D. Clinical transfusion studies - theory and practice[M]. Shanghai: Shanghai Jiao Tong University Press, 2014:219-223
[3] ISBT. Names for ABO(ISBT 001)blood group alleles vl.1170123.[R/L]. http://www.isbtweb.org/working-parties/red-cell-immunogenetics-and-blood-group-terminology/
[4] HUANG H, JIN S, LIU X, et al. Molecular genetic analysis of weak ABO subgroups in the Chinese population reveals ten novel ABO subgroup alleles[J]. Blood Transfus, 2019, 17(3):217-222.
[5] MONTEMAYOR-GARCIA C, KARAGIANNI P, STILES D A, et al. Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project[J]. Transfusion, 2018, 58(11):2693-2704.
[6] MATZHOLD E M, WAGNER T, DREXLER C, et al. Aberrant ABO B phenotype with irregular anti-b caused by a para-bombay FUT1 mutation[J]. Transfus Med Hemother, 2020, 47(1):94-97.
[7] 钟锦灶, 朱碎永, 裘晓乐, 等. ABO变异型基因c.425T>C突变致B抗原弱表达的鉴定分析[J]. 中国卫生检验杂志, 2020, 30(3):286-287,290.
  ZHONG J Z, ZHU S Y, QIU X L, et al. Identification and analysis of weak B antigen expression caused by ABO variant gene c.425 T > C mutation[J]. Chin J Health Lab Technol, 2020, 30(3):286-287,290.
[8] 柳森龙, 任凯, 刘迪, 等. ABO血型基因突变导致正反定型不符分析[J]. 蚌埠医学院学报, 2020, 45(12):1685-1688.
  LIU SL, REN K, LIU D, et al. Analysis of ABO blood type gene mutation leading to inconsistent positive and negative typing[J]. J Bengbu Med Coll, 2020, 45(12):1685-1688.
[9] 赵佳, 赵倩, 苏蔓, 等. 1个新的ABO等位基因及其家系研究[J]. 临床输血与检验, 2023, 25(5):688-691.
  ZHAO J, ZHAO Q, SU M, et al. A new ABO allele and its family study[J]. J Clin Transfus Lab Med, 2023, 25(5):688-691.
[10] 郝萧, 刁雪芹, 姜慧, 等. 一例Ax22亚型的血清学及分子生物学分析[J]. 临床输血与检验, 2023, 25(4):549-551.
  HAO X, DIAO X Q, JIANG H, et al. Serological and molecular biology analysis of a case of Ax22 subtype[J]. J Clin Transfus Lab Med, 2023, 25(4):549-551.
[11] 顾玉微, 王成云, 顾萍, 等. ABO等位基因调控区突变致抗原弱表达原因分析[J]. 检验医学, 2021, 36(6):637-641.
  GU Y H, WANG C Y, GU P, et al. Weak expression of antigen caused by the variation in the regulatory region of ABO allele and cause analysis[J]. Lab Med, 2021, 36(6):637-641.
[12] 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.
  ZENG Y M, LEI H, WANG Y, et al. ABx Subtype formation by 1,3-D-galactosyltransferase p.Arg187Cys mutation[J]. J Clin Transfus Lab Med, 2021, 23(1):41-45.
[13] 林秋燕, 张进萍, 黄震宇, 等. ABO疑难血型的基因型鉴定与序列分析[J]. 中国输血杂志, 2023, 36(1):8-10.
  LIN Q Y, ZHANG J P, HUANG Z Y, et al. Genotyping identification and sequence analysis of ABO ambiguous blood group in 20 cases[J]. Chin J Blood Transfus, 2023, 36(1):8-10.
[14] 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.
  FANG Q, FENG C C, ZHANG Y X, et al. Pedigree of a pregnant woman with rare AW.37/B.01 subtypes and the identification of neonatal blood type[J]. Chin J Blood Transfus, 2020, 33(12):1223-1225.
[15] 李晓健, 黄象艳, 武文, 等. ABO基因第7外显子c.940A>G变异致A W37B亚型及其家系的调查分析[J]. 中华医学遗传学杂志, 2021, 38(5):496-498.
  LI X J, HUANG X Y, WU W, et al. Identification and pedigree analysis for an A W37B subtype due to c. 940A>G variant of ABO gene[J]. Chin J Med Genet, 2021, 38(5):496-498.
[16] CHEN C, JIE X, TIAN L, et al. Weak A variant caused by c.940A>G missense mutation of the ABO gene[J]. Transfusion, 2019, 59(11):E13-E14.
[17] 宿军, 王夕钢, 杨红霞, 等. ABO亚型分子遗传学分析及罕见等位基因鉴定[J]. 中国输血杂志, 2024, 37(2):145-150.
  SU J, WANG X G, YANG H X, et al. Molecular genetic analysis and identification of novel alleles of ABO subtypes[J]. Chin J Blood Transfus, 2024, 37(2):145-150.
[18] 张妍, 宋玥, 李娜, 等. 疑难血型鉴定及处理分析[J]. 中国输血杂志, 2018, 31(5):534-536.
  ZHANG Y, SONG Y, LI N, et al. The identification and analysis of 56 cases with ambiguous blood typing results[J]. Chin J Blood Transfus, 2018, 31(5):534-536.
[19] 赵桐茂. 红细胞血型基因分型在精准输血医学中的应用[J]. 精准医学杂志, 2018, 33(1):12-14.
  ZHAO T M. Application of red blood cell blood type genotyping in precision transfusion medicine[J]. J Precision Med, 2018, 33(1):12-14.
[20] 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 Pharm Sci, 2021, 83(4): 62-65.
[21] 周璐, 雷航, 洪叶, 等. 一个新的ABO*A等位基因导致的AwB亚型及其分子机制研究[J]. 诊断学理论与实践, 2021, 20(6):547-551.
  ZHOU L, LEI H, HONG Y, et al. AwB subtype caused by a novel ABO *A allele and its molecular mechanisms[J]. J Diagn Concepts Pract, 2021, 20(6):547-551.
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