Abstract:
BACKGROUND:The Am phenotype has been characterized as a weak expression of the A antigen on red blood cells but the presence of a normal quantity of the A antigen in saliva. This study describes a molecular genetic analysis of members of an Am family. STUDY DESIGN AND METHODS:The eight exon regions of the ABO genes of the Am proposita were amplified by polymerase chain reaction and cloned, and their sequences were analyzed. The alpha-1,3-N-acetylgalactosaminyltransferase (A-transferase) activities of the Am serum and the expressed Am transferase were analyzed. RESULTS:An A gene with a 664G>A mutation, which predicts an amino acid alteration of Val222Met, was identified in the Am proposita. This Am664A allele was demonstrated in other three family members with the Am phenotype. The A-transferase activity was virtually undetectable in the Am sera, and the expressed Am transferase showed weak A-transferase activity, when compared with the expressed A1 transferase, in assays that use acceptor substrates mimicking the Type 2 H structure and Type 1 H structure. CONCLUSION:A novel A allele with 664G>A mutation was demonstrated in a pedigree with the Am phenotype. The mechanism leading to the formation of the Am phenotype still awaits elucidation.
journal_name
Transfusionjournal_title
Transfusionauthors
Lin M,Hou MJ,Twu YC,Yu LCdoi
10.1111/j.1537-2995.2005.04132.xsubject
Has Abstractpub_date
2005-01-01 00:00:00pages
63-9issue
1eissn
0041-1132issn
1537-2995pii
TRF04132journal_volume
45pub_type
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