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PLASTIC RECONSTRUCTIVE AND REGENERATIVE SURGERY

Abstract

This study utilized third-generation single-molecule sequencing to identify a B subgroup in the ABO blood group system. The subject was a voluntary blood donor from China. Full-length sequencing of the ABO gene via the PacBio platform revealed that the individual carries a novel ABO allele, c.298T>A (p.Phe100Ile). This mutation was not detected in a cohort of 60 randomly selected blood donors, and pedigree analysis indicated it was inherited from the father. The mutation is predicted to disrupt the structure of glycosyltransferase and impair its catalytic activity, leading to weak expression of the B antigen. This study is the first to report the association between the c.298T>A mutation and a weak B subtype, thereby expanding the understanding of the genetic diversity within the ABO system and highlighting its significance for transfusion safety.

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Authors

Jiancheng Liu - Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China https://orcid.org/0009-0005-8434-9107

Wei Zhang - Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China

Feng Shao - Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China

Xiao-Yin Mao - Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China

Xiao-Yun Bu - Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China

Jie Yang - Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China

Jing Hai - Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China

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