Heterozygous FUT1 mutations causing a para-Bombay phenotype

BACKGROUND: To study a case of para-Bombay phenotype caused by compound heterozygous mutation of the FUT1 gene. METHODS: We performed an agglutination examination to anti-H serum. Secretor status was determined in order to assess the presence of soluble blood group substances. Genotyping of ABO and FUT1 genes were also performed. RESULTS: Our results showed the presence of A and H antigens in the saliva. Based on these results, the patient in the present case was diagnosed to have a para-Bombay A phenotype. Direct DNA sequencing of the patient's ABO gene indicated A1v/O1vgenotype. FUT1 gene sequence analysis revealed that the patient harbored the compound heterozygous mutations c.881_882delTT (p.Phe294Cysfs) and c.551_552delAG (p.Glu184Valfs). CONCLUSIONS: In summary, our findings support that the occurrence of a heterozygous mutation in FUT1, 547delAG/880delTT, is the most common mutation in Taiwanese.