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摘要: 目的 探讨分析ABO血型变异型B305亚型的血清学特点及基因序列，为后续输血奠定策略。方法 采用盐水试管凝集法进行ABO血型正反定型，采用聚合酶链反应直接测序技术(PCR-SBT)进行B抗原基因分型，采用Sanger测序法进行B抗原基因测序，采用盐水法和凝聚胺法进行交叉配血。结果 3例先证者红细胞上含有弱B抗原，血清中存在抗-A抗体；等位基因结果为ABO*B3.05，与标准序列比较其c.425 T>C发生突变，引起其多肽链P.Met142Thr的氨基酸替换。与B型、O型红细胞交叉配血无凝集无溶血反应。结论 ABO血型第7外显子c.425 T>C突变是导致B305亚型抗原弱表达的分子机制，基因测序结合亚型血清学特点对其后续输血策略具有重要意义。Abstract: Objective To explore and analyze the serological characteristics and gene sequence of the ABO variant B305 subtype and propose strategies for subsequent blood transfusions.Methods ABO blood group typing was performed using the saline test tube agglutination method. B antigen genotyping was conducted using the PCR-SBT method, and B antigen gene sequencing was carried out using the Sanger sequencing method. Cross-matching was performed using the polybrene method.Results Three probands exhibited weak B antigens on their red blood cells and had anti-A antibodies in their serum. The allele result was identified as ABO*B3.05, and a c.425 T>C mutation was detected compared to the standard sequence. This mutation resulted in the substitution of amino acid P.Met142Thr in the polypeptide chain. Cross-matching experiments with type A red blood cells displayed agglutination reactions, while no agglutination or hemolysis reactions were observed with type B and type O red blood cells.Conclusion The weak expression of the B305 subtype antigen may be attributed to the ABO blood group exon 7 c.425 T>C mutation. These findings hold significant implications for the study of subsequent blood transfusion strategies.
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Key words:
- ABO blood group /
- B305 subtype /
- molecular biology
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表 1 先证者1~3 ABO正反定型血清学结果表
先证者 正定型 反定型 血型 抗-A 抗-B 抗-A1 抗-H A细胞 B细胞 O细胞 先证者1 4+ mf 3+ 3+ 0 0 0 AB亚 先证者2 0 1+ 0 4+ 4+ 0 0 B亚 先证者3 0 2+ 0 3+ 4+ 0 0 B亚 注：凝集强度“1+~4+”表示；混合视野“mf”表示；无凝集“0”表示。 
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