Identification and pedigree analysis of one rare CisAB phenotype
Objective To discuss the molecular background and genetic rule of a patient whose ABO blood group was suspected to be CisAB with further identification tests and pedigree analysis.Methods Peripheral blood samples with ethyl-enediaminetetraacetic acid disodium salt(EDTA-Na2)anticoagulant from the patient and his three family members were col-lected,ABO blood group of all samples were identified by serological tests.Exons 6 and 7 of ABO gene were amplified by polymerase chain reaction(PCR)after genomics DNA had been extracted,then the amplified products were performed se-quencing analysis.Results ABO forward typing results of the patient and his mother were A1Bx and A2B,respectively.How-ever,high level H antigens were detected on the RBCs and low level anti-B was found in their plasma.Serological results indicated patient and his mother were CisAB,while his father and brother were normal A and O group.Cloning and sequenc-ing showed that one of the patient's alleles arising from nucleotide substitution c.796A＞C in ABO*B.01 caused the CisAB phenotype and his genotype was ABO*CisAB.novel/ABO*A1.01,mother's genotype was ABO*CisAB.novel/ABO*O.01.01,father and brother's were ABO*A1.01/ABO*O.01.01 and ABO*O.01.01/ABO*O.01.01,respectively.Conclusion ABO blood group of the patient and his mother were CisAB,novel allele arising from nucleotide substitution c.796A＞C in ABO*B.01 can lead to CisAB phenotype and could inherit to next generation.
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