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Identification of a novel A 2 allele derived from the A transferase gene through a nucleotide substitution G539C
Author(s) -
Chen D.P.,
Tseng C.P.,
Wang W.T.,
Sun C.F.
Publication year - 2005
Publication title -
vox sanguinis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.68
H-Index - 83
eISSN - 1423-0410
pISSN - 0042-9007
DOI - 10.1111/j.1423-0410.2005.00608.x
Subject(s) - abo blood group system , allele , biology , genetics , microbiology and biotechnology , gene , population , mutation , medicine , environmental health
Background and Objectives The A 2 is a very rare phenotype in the ABO blood group system in the Oriental population. It corresponds to a special ABO allele encoding a glycosyltransferase that is capable of synthesizing A 2 antigens, which is weaker than the typical A antigen. In this study, we report a novel A 2 allele in two unrelated Taiwanese individuals. Materials and Methods Two individuals were identified as the A 2 phenotype based on the standard ABO serological test. For analysing the A 2 allele, both direct sequencing and gene cloning of the ABO gene were performed. Results The ABO gene of the two A 2 individuals was composed of O 1 and A 2 alleles, and the novel A 2 allele has a 539G > C that results in the amino acid change Arg180Pro. The mutation was not detected in the general group A population. Conclusion We report for the first time that a 539G > C mutation represents a new molecular basis for the A 2 blood type. The amino acid substitution from arginine to proline may have effect on the expression of A antigen.