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Presence of nucleotide substitutions in the ABO promoter in individuals with phenotypes A3 and B3.
- Source :
- Vox Sanguinis; Apr2016, Vol. 110 Issue 3, p285-287, 3p, 1 Diagram, 1 Chart
- Publication Year :
- 2016
-
Abstract
- Recently, the involvement of mutation and deletion of transcription regulatory elements in the B<subscript>m</subscript>, A<subscript>m</subscript>, A<subscript>3</subscript> and B<subscript>3</subscript> phenotypes has been reported. In the present study, we carried out genetic analysis of individuals with A<subscript>3</subscript> and B<subscript>3</subscript> 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<subscript>3</subscript> individuals and on the B allele in a B<subscript>3</subscript> 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<subscript>3</subscript> and B<subscript>3</subscript> phenotypes. [ABSTRACT FROM AUTHOR]
- Subjects :
- GENETIC mutation
NUCLEIC acid analysis
LUCIFERASES
PLASMIDS
PHENOTYPES
Subjects
Details
- Language :
- English
- ISSN :
- 00429007
- Volume :
- 110
- Issue :
- 3
- Database :
- Complementary Index
- Journal :
- Vox Sanguinis
- Publication Type :
- Academic Journal
- Accession number :
- 114453004
- Full Text :
- https://doi.org/10.1111/vox.12363