Background and objectives: The para-Bombay phenotype has a relatively high
frequency of about 1 in 8,000 Taiwanese. Studies were carried out on eight
healthy and unrelated Taiwanese with the para-Bombay phenotype to cast light
on its immunogenetic basis. Materials and methods: Blood and saliva samples
were tested with standard hemagglutination techniques. Salivary ABH substances
were determined by hemagglutination inhibition. PCR techniques were used
to amplify the coding region of the H genes. Results: Five different h alleles,
designated as hi, h2, h3, h4 and h5, were identified in the Taiwanese with the
para-Bombay phenotype. The hi allele loses one of the three AG repeats located
at the nucleotides 547-552 of the H gene, whereas two of the three T repeats
located at the nucleotides 880-882 are deleted in the h2 allele. The h3 allele
contains a C^658 to T missense mutation, whereas two missense mutations, C^35 to
T and A^980 to C were identified in the h4 allele. A T^460 to C missense is present in
the h5 allele. The h5 allele was identified in an individual whose red blood cells
contain blood group A antigen but not H antigen, and thus may be considered a
weak variant of the Hgene. Conclusions: So far no biologic relevance of the H
antigen has been discovered, and its deficiency does not seem to produce any
deleterious effects. There may be better understanding of the evolutionary basis
for the polymorphisms at these loci after systematic study of different ethnic
populations.