An Ael Allele-Specific Nucleotide Insertion at the Blood Group ABO Locus and Its Detection Using a Sequence-Specific Polymerase Chain Reaction

• Published in: Biochemical and biophysical research communications Vol. 216; no. 2; pp. 642 - 647
• Main Authors: Olsson, M.L., Thuresson, B., Chester, M.A.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 13.11.1995
• Subjects: ABO Blood-Group System - genetics; Alleles; Base Sequence; Biologi; Biological Sciences; Consensus Sequence; DNA - genetics; DNA Primers; DNA Transposable Elements; Exons; Female; Genotype; Humans; Male; Molecular Sequence Data; Natural Sciences; Naturvetenskap; Oligonucleotides, Antisense; Pedigree; Polymerase Chain Reaction - methods; Templates, Genetic
• ISSN: 0006-291X; 1090-2104; 1090-2104
• DOI: 10.1006/bbrc.1995.2670

Genomic DNA from each of four Ael, individuals (genotypes AO1, AO1var, AO2) and one AelB individual was used as a template for amplifying exons 6 and 7 of the ABO genes, which were subsequently sequenced. In all the Ael alleles a single nucleotide insertion, compared to the A consensus sequence, was observed that would alter the amino acid sequence of the glycosyltransferase immediately after its postulated nucleotide sugar binding site and furthermore extend the translated protein by 37 amino acids (16 more than the A2 enzyme). A sequence-specific primer PCR assay was developed to detect the nucleotide insertion. It was possible to differentiate all 20 serologically defined Ael/AelB individuals available from 145 blood donors with normal ABO phenotypes and genotypes and 26 individuals with various A subgroups other than A1, A2 and Ael. This mutation explains the Ael phenotype and forms the basis of a method for detecting the Ael allele.