Journal of Diagnostics Concepts & Practice >

2024 , Vol. 23 >Issue 04: 392 - 397

DOI: https://doi.org/10.16150/j.1671-2870.2024.04.007

Original articles

Study on the Bw11 subtype caused by the 695 T>C mutation in exon 7 of the ABO blood group gene

  • ZHOU Lihua ,
  • SHEN Ru ,
  • QU Kexuan ,
  • WANG Aihua ,
  • CHEN Youhui ,
  • YUAN Zhimin
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  • 1. Department of Laboratory Medicine, Kunming Maternity and Child Health Care Hospital, Yunnan Kunming 650021, China
    2. Department of Blood Transfusion, Kunming Children's Hospital, Yunnan Kunming 650228, China
    3. Department of Clinical Laboratory, Shaanxi Provincial Cancer Hospital, Shaanxi Xi'an 710061, China

Received date: 2024-03-19

  Accepted date: 2024-06-20

  Online published: 2024-08-25

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Abstract

Objective To identify the rare ABO*BW.11/ABO*O.01.02 subtype in the Yi ethnic group in China, and to investigate the blood group serological characteristics, molecular mechanisms, and genetic background of the ABO*BW.11/ABO*O.01.02 subtype. Methods The proband was a 25-year-old pregnant woman, with ABO typing discre-pancy in routine tests on admission. Due to the inability to accurately identify the conventional ABO blood serology, exons 1-7 of the ABO gene were analyzed by sequencing using the Sanger method, and the effect of the mutation at this site on the structure and function of B glycosyltransferase was predicted using the amino acid series homology modelling of wild-type B glycosyltransferase. Results The blood group serological results of the proband and lineage were inconsistent with the typical B subtype. ABO gene sequencing unveiled a c.695T>C missense mutation in exon 7 of the ABO blood group gene in the 7 probands and family members in 4 generations, leading to the substitution of leucine by proline at position 232 of the B glycosyltransferase. Homology modeling showed that the mutation influenced the peptide and hydrogen bonds of the protein, which probably led to structural and functional alterations, diminished B-glycosyltransferase activity, and weakened expression of the B antigen. Conclusions This proband carries a point mutation in the ABO allele in exon 7 c.695T>C.P.leu 232 Pro to form the ABO*BW.11/ABO*O.01.02 subtype, and is stably inherited in multiple members of this family.

Key words： ABO subtype; gene mutation; Bw isoform; B glycosyltransferase

Cite this article

ZHOU Lihua , SHEN Ru , QU Kexuan , WANG Aihua , CHEN Youhui , YUAN Zhimin . Study on the Bw11 subtype caused by the 695 T>C mutation in exon 7 of the ABO blood group gene[J]. Journal of Diagnostics Concepts & Practice, 2024 , 23(04) : 392 -397 . DOI: 10.16150/j.1671-2870.2024.04.007

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