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摘要: 目的:对罕见的A3亚型进行血清学检测和ABO基因测序,探讨其分子生物学特性以及血清型表型和基因型的关系。方法:应用常规血清学定型方法进行ABO正反定型;对4例正反定型不符样本的第6、7外显子运用PCR扩增后直接测序,确定其基因型。结果:3例血清学表型为A亚B,1例为A亚的样本其中一条单链序列与ABO*A1.01比对,发现其在467位和745位碱基均存在C>T的突变。结论:血清学和直接测序结果表明,此4例标本均包含罕见的ABO*A3.07等位基因。Abstract: Objective: To study the relationship between serotype phenotype and genotype by detecting the rare A3 subtype using serology and ABO gene sequencing.Methods: The forward and reverse ABO typing was carried out by routine serological typing. For the samples inconsistent with forward and reverse ABO typing, their exon 6 and exon 7 were amplified by PCR and sequenced directly to determine the genotypes.Results: Among the 4 samples, 3 cases were A sub-B serological phenotype, and 1 was A sub serological phenotype. One single strand sequence was compared with ABO*A1.01 and it was found that there was mutation of C>T at 467 and 745 sites in all four samples.Conclusion: The results of serology and direct sequencing showed that all the 4 samples contained rare ABO*A3.07 allele.
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Key words:
- ABO subtype /
- A3 subtype /
- serotype phenotype /
- gene sequencing
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