Objective: In this study, the results of forward and reverse blood typing of a male patient diagnosed as bronchiectasis were inconsistent, which were type O and type A respectively. Multiple experiments including genotyping and sequencing and family investigation were carried out to determine the subtype of ABO blood group and explore the serological characteristics of this subtype.
Methods: Standard serological techniques were used to conduct forward and reverse typing, reverse blood typing enhancement test, H antigen identification, absorption-elution test, salivary blood group substances test, and PCR-SSP method for ABO genotyping and exon 6 and 7 sequencing.
Results: The proband's blood group was type O by forward typing, but antigen A could be detected by absorption-elution test, anti-A1 could be detected by reverse blood typing enhancement test, it was found that there was substance H but no substance A in saliva, and the serological characteristics were consistent with Ael subtype. Gene sequencing analysis showed that there was a c.625T>G base substitution on the basis of A102, which had never been reported before. Family survey showed that c.625T>G base substitution appeared in three generations of the family.
Conclusion: In this study, a new subtype A with Ael serological characteristics caused by c.625T>G mutation was identified. c.625T>G base substitution results in the weakening of A antigen, and this mutation can be stably passed down to future generations.
题目: 一个新的A等位基因突变所致A亚型的血清学特点及家系调查.
目的: 1名诊断为支气管扩张症的男性患者的血型正反定型不一致，正向和反向血型分别为O型和A型。本研究对其进行了包括基因分型和测序在内的多项实验及家系调查，以确定其亚型，并探讨该亚型的血清学特点。.
方法: 用标准的血清学技术对先证者及其部分家系成员进行正反定型、反定型增强试验、H抗原鉴定、吸收放散试验、唾液血型物质试验，并利用PCR-SSP法进行ABO基因分型及6、7外显子测序。.
结果: 先证者血型正定型为O型，但吸收放散试验可检出A抗原，反定型增强试验可检出抗-A1，唾液中有H物质但无A物质，血清学特征符合 Ael亚型。基因测序分析显示，在 A102的基础上发生了从未报道过的c.625T>G碱基替换，家系调查显示c.625T>G的碱基替换出现在了该家系的三代人中。.
结论: 本研究确定了一个由c.625T>G突变引起的具有Ael血清学特征的新等位基因型，c.625T>G碱基替换导致A抗原减弱，这种突变可以稳定地遗传给后代。.
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