Abstract
Background - The mutation of ABO gene leads to the weakening of ABO antigen expression. The third-generation single-molecule sequencing technology is used to help accurately identify the variant blood group and analyze the molecular mechanism of antigen weakening.
Materials and methods - The ABO blood group was identified by immunohematology, and the weak antigen was detected by absorption and elution technique. Finally, the full-length sequence of ABO gene was analyzed by the third-generation single-molecule sequencing technology, including promoter, exon, intron and regulatory region.
Results - The proband was serologically identified as Ael subtype. Gene sequencing analysis showed that the genotype of the proband was ABO * O.01.01 / ABO * A.NEW heterozygous, carrying a novel mutation c.959 insC.
Discussion - This study reports the discovery of a novel Ael blood group allele, which results in reduced expression of the A antigen on the red blood cell surface.
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Authors
Jiancheng Liu
Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China
Wei Zhang Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China
Feng Shao Blood Group Reference Laboratory, Ningxia Blood Center, Yinchuan, China
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