Human histo-blood group A2 transferase coded by A2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal.
We have identified a possible mutation which characterizes A2 alleles (a minor subtype of A) at the human histo-blood group ABO locus based on polymerase chain reaction (PCR) of genomic DNA, followed by nucleotide sequencing of the amplified fragments. The A2 subtype has a single base deletion near the carboxyl terminal. As a result of frame-shifting, A2 transferase possesses an extra domain. Introduction of this single base deletion into the A1 transferase cDNA expression construct drastically decreased the A transferase activity in DNA-transfected HeLa cells.
Yamamoto
F
F
Biomembrane Institute, Seattle, WA 98119.
McNeill
P D
PD
Hakomori
S
S
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004274:DNA, Recombinant; D005091:Exons; D005646:Fucosyl Galactose alpha-N-Acetylgalactosaminyltransferase / Q000737:chemistry / Q000235:genetics*; D006367:HeLa Cells; D006801:Humans; D008969:Molecular Sequence Data; D016296:Mutagenesis; D016133:Polymerase Chain Reaction; D014162:Transfection
D004274:DNA, Recombinant; D004247:DNA; D005646:Fucosyl Galactose alpha-N-Acetylgalactosaminyltransferase