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Objective: To explore the molecular basis for a novel B(A) phenotype., Methods: Genomic DNA was abstracted from peripheral blood sample from the proband. ABO genotyping were carried out with sequence specific primer PCR (PCR-SSP). Exons 6 and 7 of the ABO gene were amplified with PCR and sequenced., Results: Anti-A serum could not be adsorbed or eluted by the donor's red blood cells, and no irregular antibodies were found in the plasma. PCR-SSP showed that the ABO genotype of the donor was ABO *B/O. Sequencing results showed that one of the alleles was ABO *O02, while the other could not be defined but contained the following mutation points, 297A>G, 526C>G, 657C>T, 701C>T, 703G>A, 796C>A, 803G>C, and 930G>A. The data was accepted by the GenBank (the loading code was KM974887) and the Blood Group Antigen Mutation Database, and was confirmed to be a novel allele of B(A)., Conclusion: A novel allele ABO *B(A)07 with 701C>T has been identified, which may facilitate further study on blood antigen variants and typing of the blood groups.

Background The para- Bombay phenotype is characterized by the absence or weak expression of ABH antigens on the surface of red blood cells, but normal expression in saliva. Study Design and Methods The para- Bombay phenotype of the nine Chinese probands was identified by standard serologic techniques. The coding regions of FUT1 and FUT2 genes were amplified by polymerase chain reaction and then directly sequenced. ABO genotyping was performed by polymerase chain reaction with sequence-specific priming method. The FUT1 and FUT2 genotypes and the distribution in all reported Chinese para-Bombay individuals including our study were also summarized. Results Five FUT1 genotypes, h1h3 (n = 3), h1h2 (n = 3), h1h1 (n = 1), h3h3 (n = 1), and h2h3 (n = 1), and three functional FUT2 genotypes, Se357Se357 (n = 4), Se357Se357, 716 (n = 4), and Se357Se357, 385 (n = 1) described before were identified in nine probands. Conclusions The review of the literature shows that a total of 17 FUT1 alleles and four FUT2 alleles ( Se357, Se357,716, Se357 385, Se) have been identified in Chinese para- Bombay individuals. The four FUT1 alleles, h1 (547 delAG), h2 (880 delTT), h3 ( C658 T), and h4 ( C35 T; A980 C) are most prevalent, which account for more than 90% of all allele counts and are essential to be involved when developing para- Bombay genotyping kit for Chinese. [ABSTRACT FROM AUTHOR]