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I ABO i blood group genotyping methods have been used to identify and differentiate individuals with the ABO subgroup phenotype in some blood group laboratories.[[1]] Currently, the techniques for I ABO i blood group genotyping include polymerase chain reaction (PCR) sequence-specific primers, PCR sequencing-based typing (Sanger method), real-time PCR, DNA chip, next-generation sequencing, and so on. The sequences for Exons 1 to 7 of the I ABO i gene were amplified by PCR, and the amplicons were sequenced according to our previous reports.[[3], [5]] For further confirmation, the haplotypes of the I ABO i gene in the proband were determined using the respective B and O allele-specific primer sequencing methods according to our in-house method. Furthermore, a novel B allele and an AB0*O.01.01 allele were found in the proband with the B and O allele specific primer sequencing methods. [Extracted from the article]

In our study, the c.426G>C mutation is described in an I ABO*A1.02 i allele, but the mutation was found earlier in an I ABO*A1.01 i allele in a Chinese individual and is now assigned I ABO*A SP W sp .38 i by ISBT.[5] The sequence of the c.426G>C mutation in I ABO*A1.02 i allele was submitted to the GenBank nucleotide sequence database and assigned the accession number MK618722. In conclusion, a new allele with c.426G on the I ABO*A1.02 i was identified, which may be responsible for an A SB w sb phenotype. [Extracted from the article]

Eight of them were characteristic for the I ABO*A1.02 i and I ABO*B.01 i alleles except c.830T/C site. Further, I ABO*B.01 i and a novel I A i allele were found in the proband using the I A i allele specific sequencing method. We have previously observed some mutation of the I ABO i gene could be decreased glycosyltransferase activity.[[4]] However, the expression activity of c.830C on the I ABO*A1.02 i in vitro was not determined in this study. [Extracted from the article]

The article presents a case study of a novel B allele which was characterized by a nucleotide deletion in exon 1 of the ABO gene identified in a Chinese individual with B subtype. Topics include ABO blood group antigens which play an important role in the fields of both transfusion and transplantation medicine; ABO phenotypes which were determined by hemagglutination tests and serologic diagnostic classification; and therefore was identified to carry the novel B allele through forward typing.

The article focuses on a study which identifies a novel B allele with missence mutation in the ABO gene. Topics discussed include ABO as one of the most clinically relevant blood group systems in both transfusion and transplantation medicine, the blood typing results of the proband's red blood cells and the sequence of the ABO gene of the proband.