Molecular genetic analysis of the Bel phenotype.
OBJECTIVE
In addition to the common ABO phenotypes, numerous phenotypes with a weak expression of the A or B antigens on the red blood cells have been found. This study describes the molecular genetic analysis of the Bel phenotype in Taiwanese individuals.


METHODS
The exon 6-7 region of the ABO gene of an individual with the Bel phenotype was amplified by the polymerase chain reaction (PCR), cloned, and the sequences of the exons and their adjacent splice sites were analysed. A PCR-based restriction fragment length polymorphism (RFLP) analysis was designed to detect the 502C>T nucleotide change identified in the Bel allele. Six unrelated individuals with the Bel phenotype were analysed, and samples from 40 randomly selected individuals with the common B phenotype were also assessed.


RESULTS
All six unrelated Taiwanese individuals with the Bel phenotype were shown to possess a B gene with the 502C>T mutation. The mutation was not detected in the general group B population. The 502C>T nucleotide change predicts an amino acid alteration of Arg168-->Trp in the encoded B transferase.


CONCLUSIONS
The results suggest a new molecular basis, a 502C>T missense mutation in the B allele, for the Bel phenotype and an association of the Bel502C>T allele with the Bel phenotype in the Taiwanese population.
D000017:ABO Blood-Group System / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D006801:Humans; D008967:Molecular Biology; D020125:Mutation, Missense; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D013624:Taiwan
D000017:ABO Blood-Group System; D004247:DNA