Objective: To explore the serological characteristics and molecular basis for an individual with para-Bombay phenotype.
Methods: Blood type of the proband was determined with routine serological methods. Exons 6 and 7 of the ABO gene and coding regions of the FUT1 and FUT2 genes were amplified by PCR and sequenced.
Results: The para-Bombay phenotype was confirmed to be of Ah-secretion type. The genotype of the individual was determined as A102/O01. Position 328 of the FUT1 gene was mutated from A to G, resulting in replacement of Alanine (Ala) at position 110 by Threonine (Thr).
Conclusion: The G to A mutation of nt328 of the FUT1 gene probably underlies the para-Bombay phenotype in this individual.