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Molecular genetic analysis for the A e1 and A 3 alleles
Author(s) -
Sun ChienFeng,
Yu LungChih,
Chen IngPing,
Chou DingLun,
Twu YuhChing,
Wang WeiTing,
Lin Marie
Publication year - 2003
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1046/j.1537-2995.2003.00500.x
Subject(s) - genetics , allele , biology , exon , phenotype , missense mutation , gene , intron , mutation , coding region , microbiology and biotechnology , genetic analysis
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 A el and the A 3 phenotypes. STUDY DESIGN AND METHODS: The seven‐exon regions of the ABO genes of A el and A 3 B 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 A 1 individuals were also assessed. RESULTS: The A gene with wild‐type coding sequence was demonstrated in the A el propositus, but all the six unrelated Taiwanese people with the A el or A el B 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 A el RNA samples. The A 3 B 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 A el phenotype in Taiwanese people. The mechanism defining how the A el * IVS6 + 5G → A allele leads to the A el phenotype awaits elucidation.