Novel mutations, including a novel G(659)A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype

Para-Bombay phenotype, with an estimated incidence of 1 in 8000 in Taiwanes e residents based on serological analysis, is caused by aberrant alpha(1,2) -fucosyltransferase function and hence diminished H-antigen synthesis. In a n individual with para-Bombay phenotype, DNA sequencing revealed two missen se mutations-a previously reported (CT)-T-658 mutation and a novel G(659)A mutation. Haplotype analysis with restriction enzyme digestion showed that the two mutations are located on opposing alleles of the H (FUT1) gene and lead to compound heterozygosity. Since no other known genetic changes were evident, it appears that the new missense mutation, G(659)A, is deleterious to the alpha(1,2)-fucosyltransferase function encoded by the H (FUT1) gene .