Mutational Analysis of Bombay Phenotype in Iranian People: Identification of a Novel FUT1 Allele.

Bombay phenotype is characterized by lack of ABH antigens on RBCs and in body secretions as a result of mutations in fucosyltransferase 1 (FUT1) and fucosyltransferase 2 (FUT2) genes. The aim of this study was a mutational analysis in Iranians with this phenotype. Serological analyses including ABH and adsorption-elution tests were performed in five unrelated Bombay individuals. ABO genotyping was determined by direct sequencing. The coding regions of FUT1 and FUT2 genes were amplified and sequenced directly or after cloning into suitable vector. A novel missense FUT1 allele was detected (G1051T; G351C). Also four reported FUT1 alleles were revealed. Molecular analysis of FUT2 gene confirmed nonsecretor status in all individuals. This and our previous findings suggest the diversity and population specificity of FUT1 alleles.