Presence of nucleotide substitutions in the ABO promoter in individuals with phenotypes A 3 and B 3

Recently, the involvement of mutation and deletion of transcription regulatory elements in the B m , A m , A 3 and B 3 phenotypes has been reported. In the present study, we carried out genetic analysis of individuals with A 3 and B 3 using peptide nucleic acid‐clamping PCR to exclude amplification...

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Bibliographic Details
Published in:Vox sanguinis 2016-04, Vol.110 (3), p.285-287
Main Authors: Isa, K., Yamamuro, Y., Ogasawara, K., Yabe, R., Ogiyama, Y., Ito, S., Takahashi, Y., Kominato, Y., Sano, R., Uchikawa, M.
Format: Article
Language:English
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Summary:Recently, the involvement of mutation and deletion of transcription regulatory elements in the B m , A m , A 3 and B 3 phenotypes has been reported. In the present study, we carried out genetic analysis of individuals with A 3 and B 3 using peptide nucleic acid‐clamping PCR to exclude amplification of O alleles. Two single‐point mutations, −76G>C and −68G>T, were found in the ABO promoter on the A ‐allele in three A 3 individuals and on the B allele in a B 3 individual, respectively. Transient transfection of luciferase reporter plasmids carrying the same mutations into K562 cells revealed decreased luciferase activity in comparison with that carrying the wild‐type promoter. These observations suggest that the mutations downregulate the promoter activity, leading to reduction in A‐ or B‐antigen expression on red blood cells in individuals with the A 3 and B 3 phenotypes.
ISSN:0042-9007
1423-0410
DOI:10.1111/vox.12363