c.543G>C mutation in ABO*A.1.02 allele responsible for a weak A phenotype

c.586T>C mutation on the ABO*A1.02 allele responsible for Ael phenotype

“…Seven exons and their flanking intronic regions of the ABO gene were amplified and sequenced (Seq ABO exon kit, Jiangsu ZOJIWAT Pharmaceutical Biotechnology). The gel‐purified PCR product of Exon 7 containing the novel mutation was further cloned and sequenced to identify the ABO haplotype according to our previous report 3 . The resulting sequence data were compared with that corresponding to GenBank Accession Number NG_006669.…”

“…The gelpurified PCR product of Exon 7 containing the novel mutation was further cloned and sequenced to identify the ABO haplotype according to our previous report. 3 The resulting sequence data were compared with that corresponding to GenBank Accession Number NG_006669. The impact of newly identified amino acid substitution on the biological function of the 3-α-Nacetylgalactosaminyltransferase was predicted with the software program PROVEAN (http://provean.jcvi.org/ index.php).…”