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在 ABO*B.01 背景上识别了具有 c.318C>T 的新型 B 基因

Hongwei Qin, Chenglong Yu, Jie Xue

Clinical laboratory

|October 13, 2025

概括

在两名中国人身上发现了一种特定的ABO基因突变 (c.318C>T),这可能解释了他们的弱化B抗原表达. 这一发现影响了输血医学和理解血型遗传学.

科学领域:

遗传学遗传学是一个
免疫学免疫学免疫学
输血医学输血医学

背景情况:

ABO 血型系统对于安全的输血,器官移植以及预防新生儿血溶性疾病至关重要.
ABO抗原表达是由 ABO 基因控制的,像单核酸多态 (SNP) 这样的变异可以改变抗原性.

研究的目的:

为了研究两个中国人的弱化B抗原表达的遗传基础.
为了确定ABO基因内可能影响抗原呈现的特定突变.

主要方法:

使用自动化微柱玻璃珠和盐水管方法进行了血清类型化.
提取了基因组DNA,并使用第三代测序 (PacBio RS和Sequel Systems) 测序了全长的 ABO 基因.

主要成果:

血清学测试表明,这两名受试者的B抗原表达减弱.
测序揭示了A1.02等位基因和B.01等位基因上的同名c.318C>T突变,这并没有改变氨基酸序列 (p.Asn106Asn).
在ABO基因的调节区域中没有发现其他突变.

结论:

在B.01等位基因中的c.318C>T突变被确定为弱化B抗原表达的潜在原因.
这一遗传发现有助于理解 ABO 血型变异及其临床影响.

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