Molecular genetic analysis for the Ae1 and A3 alleles

Chien Feng Sun, Lung Chih Yu, Ding Ping Chen, Ming Lun Chou, Yuh Ching Twu, Wei Ting Wang, Marie Lin*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

27 Scopus citations


BACKGROUND: In addition to the common ABO phenotypes, numerous phenotypes with a weak expression of the A or B antigens on RBCs have been found. This study describes the molecular genetic analysis of the Ael and the A3 phenotypes. STUDY DESIGN AND METHODS: The seven-exon regions of the ABO genes of Ael and A3B individuals were amplified by PCR and cloned, and the sequences of the exons and their adjacent splice sites were analyzed. Samples from 30 randomly selected A1 individuals were also assessed. RESULTS: The A gene with wild-type coding sequence was demonstrated in the Ael propositus, but all the six unrelated Taiwanese people with the Ael or AelB phenotype were shown to possess an A allele with the G→A mutation at the +5 position of intron 6 (IVS6+5G→A). RT-PCR analysis showed that the complete A transcript structure was absent in the Ael RNA samples. The A 3B individual possessed an A gene with an 838C→T missense mutation. CONCLUSION: The results suggest an association of the A el*IVS6+5G→A allele with the Ael phenotype in Taiwanese people. The mechanism defining how the A el*IVS6+5G→A allele leads to the Ael phenotype awaits elucidation.

Original languageEnglish
Pages (from-to)1138-1144
Number of pages7
Issue number8
StatePublished - 01 08 2003


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