Identification and analysis of a novel ABO allele with c.959insC variant in a Chinese blood donor

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.