title: [Ael subgroup due to alpha-1,3-N-acetylgalactoseaminotransferase gene 467C>T and 804insG variants].
abstract: OBJECTIVE
  To explore the effect of variants of alpha-1,3-N-acetylgalactosaminyltransferase of the ABO gene on A antigen expression.
  
  
  METHODS
  Three samples were assayed by serological method. The extracted DNA was genotyped by sequence-specific primer polymerase chain reaction (SSP-PCR) and direct sequencing. To identify haploid of the ABO gene, clones for exons 6 and 7 of the ABO locus were analyzed.
  
  
  RESULTS
  All of the three samples were identified as the Ael subgroup, among which were found to carry the Ael08 and O01 alleles, while another was confirmed to harbor the Ael08 and O04 alleles. Compared with the A101 allele, two nucleotide alterations (467C>T and 804insG) at exon 7 have resulted in amino acid substitution P156L and frameshift from position 269.
  
  
  CONCLUSIONS
  467C>T and 804insG variants of the alpha-1,3-N-acetylgalactosaminyltransferase gene probably underlie the Ael phenotype.
authors.affiliation: Liaoning Blood Center, Shenyang, Liaoning 110044, China; Shenyang Research Center for Cell Application, Shenyang, Liaoning 110044, China. Email: ljp_63@163.com.
authors.forename: Xu
authors.initials: X
authors.lastname: Zhang
authors.forename: Jianping
authors.initials: J
authors.lastname: Li
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics*; D000483:Alleles; D005260:Female; D006801:Humans; D008297:Male; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*
chemical_list: D000017:ABO Blood-Group System; D017350:N-Acetylgalactosaminyltransferases