Abstract

目的 鉴定中国人群的ABO血型新等位基因.方法 ABO血清学定型、PCR-SSP基因定型、基因克隆和测序分析.结果一个血型血清学为A2亚型、PCR-SSP基因定型为A2O1的健康捐血者,其O1基因单倍体的2个碱基发生了缺失突变,即第6外显子区域中261位G缺失和第7外显子区域中496位A缺失.该等位基因与ABO*O101基因序列的差异在于496位A缺失.结论该等位基因是一个与O1基因相关的新变异等位基因,GenBank的注册号为AY374123。

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