【摘要】 目的 对1例AwB亚型个体进行血清学鉴定和第三代单分子测序的红细胞血型分型，以探讨其血清学特点及基因分型。方法 采用微柱凝集法和盐水试管法对该AwB亚型个体进行ABO血清学分型，并通过第三代单分子测序分析其ABO血型基因，使用SnapGene软件进行序列比对分析。基因比对参考了ISBT发布的《ABO(ISBT 001)血型等位基因命名》v1.1 171023。结果 血清学鉴定显示该患者A抗原表达减弱，并检测到抗A1。ABO基因分型表明其A单倍型为Aweak,基因型为ABOAW.09,具体突变包括：Exon2 c.46G>A、Exon3 c.106G>T、Exon4 c.188G>A、Exon5 c.220C>T、Exon7 c.467C>T,c.1061delC。FUT1基因分型为FUT1*01。结论 血清学结果与基因测序结果一致，c.1061delC突变是导致A抗原减弱的主要原因。同时，基因测序发现先证者具有A-O-A重组单倍型。A-O-A重组单倍型在A抗原减弱的分子机制中所起的作用有待进一步研究。更多还原

【Abstract】 Objective To conduct serological identification and third-generation single-molecule sequencing of red blood cell phenotyping in an individual with an AwB subtype, and to explore related serological characteristics and genotypic features.Methods An individual with the AwB subtype underwent ABO serological typing using microcolumn agglutination and saline tube methods. Third-generation single-molecule sequencing method was employed to analyze the ABO blood group genes, with sequence alignment performed using SnapGene software. Gene alignment was referenced against the ISBT’s “Names for ABO(ISBT 001) Blood Group Alleles” v1.1 171023.Results Serological identification revealed weakened A antigen expression, and anti-A1 was detected. ABO genotyping indicated that the tested individual had an Aweak haplotype with the genotype ABOAW.09. Specific mutations identified included Exon2c.46G>A, Exon3c.106G>T, Exon4c.188G>A, Exon5c.220C>T, Exon7c.467C>T, and c.1061delC. The FUT1 genotype was FUT101.Conclusion In this case study, the serological findings aligned with the genotyping results, suggesting c.1061delC as the primary cause of weakened A antigen expression. Additionally, gene sequencing results revealed the presence of an A-O-A recombinant haplotype. The role of this A-O-A recombinant haplotype in the molecular mechanism leading to weakened A antigen expression warrants further investigations.更多还原