O'Keefe D S, Dobrovic A
Department of Haematology-Oncology, Queen Elizabeth Hospital, Woodville, South Australia.
Hum Mutat. 1996;8(4):358-61. doi: 10.1002/(SICI)1098-1004(1996)8:4<358::AID-HUMU9>3.0.CO;2-3.
PCR permits direct genotyping of individuals at the ABO locus. Several methods have been reported for genotyping ABO that rely on differentiating the A, B, and O alleles at specific base substitutions. However, the O allele as defined by serology comprises at least two alleles (O1 and O2) at the molecular level, and most current ABO genotyping methods only take into account the O1 allele. Determining the presence of the O2 allele is critical, as this not-infrequent allele would be mistyped as an A or a B allele by standard PCR typing methods. Furthermore, none of the methods to date distinguish between the A1 and A2 alleles, even though 10% of all white persons are blood group A2. We have developed a method for genotyping the ABO locus that takes the O2 and A2 alleles into account. Typing for A2 and O2 by diagnostic restriction enzyme digestion is a sensitive, nonradioactive assay that provides a convenient method useful for forensic and paternity testing and for clarifying anomalous serological results.
聚合酶链反应（PCR）可对个体的ABO基因座进行直接基因分型。已有多种针对ABO基因分型的方法被报道，这些方法依赖于在特定碱基替换处区分A、B和O等位基因。然而，血清学定义的O等位基因在分子水平上至少包含两个等位基因（O1和O2），而目前大多数ABO基因分型方法仅考虑O1等位基因。确定O2等位基因的存在至关重要，因为这种并不罕见的等位基因会被标准PCR分型方法误判为A或B等位基因。此外，尽管所有白人中有10%是A2血型，但迄今为止没有一种方法能区分A1和A2等位基因。我们开发了一种考虑到O2和A2等位基因的ABO基因座基因分型方法。通过诊断性限制性酶切来检测A2和O2是一种灵敏的非放射性检测方法，它提供了一种方便的方法，可用于法医鉴定、亲子鉴定以及澄清异常的血清学结果。
