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<p>Many studies have revealed that mutations in the major regulatory and exonic regions of the <i>ABO</i> gene can alter blood group (BG) antigen expression, resulting in a weak ABO phenotype. Herein, we performed molecular analyses for these genomic regions combined with serological phenotyping in a Chinese family presenting a weak B phenotype to confirm their ABO BGs. This study included six samples (one proband and five relatives). ABO BG serotyping was conducted by the microcolumn gel technique alongside the tube saline methodology. Salivary soluble BG antigens were identified via hemagglutination inhibition testing. Comprehensive genotyping of the <i>ABO</i> gene, including its full-length sequences and upstream promoter regions, was performed utilizing third-generation single-molecule real-time (SMRT) long-read sequencing. Serological analysis of three samples revealed weak B antigen expression defined by mixed-field agglutination (MFA) with anti-B antibodies. Genetic analysis confirmed consistent ABO genotypes (<i>ABO*B.01/O.01.02</i>) across five B-type specimens, with one sample being <i>ABO*O.01.01/O.01.02</i>. Notably, B antigens were detected in each of the five saliva samples from blood type B individuals, and the c.28 + 5875C &gt; T mutation in the + 5.8&#xa0;kb RUNX1-binding region was exclusively identified in the B alleles of the three samples showing attenuated B antigen expression. The combined analysis of serological and genetic testing results confirmed that these three samples with weakened B antigen expression exhibit the ‌B<sub>3</sub> subgroup‌‌. Notably, the ‌RUNX1‌ mutation (‌c.28 + 5875C &gt; T‌) within the + 5.8&#xa0;kb DNA-binding region is likely the key driver of this reduced B antigen expression.</p>

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Identification of the Mutation c.28+5875 C>T in the RUNX1 Site of ABO Gene in a Chinese Family with B3 Phenotype

  • 期刊论文

  • 发表日期：

    2026年5月18日

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  • Zihao Zhao,
  • Yingchun Yang,
  • Weizhen Xu,
  • Zishan Jian,
  • Tongping Yang,
  • Taimei Zhou

摘要

Many studies have revealed that mutations in the major regulatory and exonic regions of the ABO gene can alter blood group (BG) antigen expression, resulting in a weak ABO phenotype. Herein, we performed molecular analyses for these genomic regions combined with serological phenotyping in a Chinese family presenting a weak B phenotype to confirm their ABO BGs. This study included six samples (one proband and five relatives). ABO BG serotyping was conducted by the microcolumn gel technique alongside the tube saline methodology. Salivary soluble BG antigens were identified via hemagglutination inhibition testing. Comprehensive genotyping of the ABO gene, including its full-length sequences and upstream promoter regions, was performed utilizing third-generation single-molecule real-time (SMRT) long-read sequencing. Serological analysis of three samples revealed weak B antigen expression defined by mixed-field agglutination (MFA) with anti-B antibodies. Genetic analysis confirmed consistent ABO genotypes (ABO*B.01/O.01.02) across five B-type specimens, with one sample being ABO*O.01.01/O.01.02. Notably, B antigens were detected in each of the five saliva samples from blood type B individuals, and the c.28 + 5875C > T mutation in the + 5.8 kb RUNX1-binding region was exclusively identified in the B alleles of the three samples showing attenuated B antigen expression. The combined analysis of serological and genetic testing results confirmed that these three samples with weakened B antigen expression exhibit the ‌B3 subgroup‌‌. Notably, the ‌RUNX1‌ mutation (‌c.28 + 5875C > T‌) within the + 5.8 kb DNA-binding region is likely the key driver of this reduced B antigen expression.