[Serological and molecular study of a novel B(A) allele with multiple missense mutations]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jan 10;38(1):20-22. doi: 10.3760/cma.j.cn511374-20191126-00605.
[Article in Chinese]

Abstract

Objective: To explore the molecular basis for an individual suspected as AwB subtype through DNA sequencing.

Methods: ABO serology was carried out with the standard tube method. To identify the ABO gene haplotype, the amplicons of exon 7 were cloned and sequenced.

Results: Serological results showed that the forward typing was AwB and the reverse typing was B. Sequencing analysis revealed that the sample has contained an O01 allele in addition with c.297A>G, c.657C>T, c.796C>A, c.803G>C, c.930G>A variants as compared with the A101 allele.

Conclusion: Through sequencing analysis, the sample with an AwB subtype by serological testing was identified as a novel B(A) phenotype, which was unreported previously.

Publication types

  • Case Reports

MeSH terms

  • ABO Blood-Group System* / blood
  • ABO Blood-Group System* / genetics
  • Alleles*
  • Base Sequence
  • Exons / genetics
  • Humans
  • Mutation, Missense*
  • Phenotype

Substances

  • ABO Blood-Group System