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 …

F Yamamoto, PD McNeill, S Hakomori - Biochemical and biophysical …, 1992 - Elsevier
F Yamamoto, PD McNeill, S Hakomori
Biochemical and biophysical research communications, 1992Elsevier
We have identified a possible mutation which characterizes A 2 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 A 2
subtype has a single base deletion near the carboxyl terminal. As a result of frame-shifting, A
2 transferase possesses an extra domain. Introduction of this single base deletion into the A
1 transferase cDNA expression construct drastically decreased the A transferase activity in …
Summary
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.
Elsevier