[Identification of a novel FUT1 allele of para-Bombay phenotype].

Objective To explore the molecular basis for an individual with para-Bombay phenotype of the H blood group. Methods Intron 5 to 3′-UTR of the ABO gene and exon 4 of the FUT1 gene were amplified with PCR and subjected to direct sequencing. Mutations of the FUT1 gene were identified by TOPO cloning sequencing. Results Direct sequencing showed that her ABO genotype was B101/O01. TOPO cloning sequencing found that this individual had three mutations of the FUT1 gene, including an heterozygous AG deletion (CAGAGAG→CAGAG) at position 547 to 552, and two C→T mutations at positions 35 (C35T) and 293 (C293T) on the other homologous chromosome. The two alleles comprised a new recombination of mutations c. 35T>C and c. 293C>T, and the sequence has been submitted to NCBI (No. MG597611). Conclusion A novel combination of FUT1 alleles with c. 35 C>T and c. 293C>T has been identified in an individual with para-Bombay phenotype. Key words: H blood group; Para-Bombay phenotypes; FUT1 gene