c.830T>C mutation on the ABO*A1.02 allele responsible for Aw phenotype.

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]