Analysis of two novel variants of FUT1 gene in a Chinese family with para-Bombay phenotype / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To study rare para-Bombay blood type Bm@*METHODS@#ABO and H phenotype of the proband and her pedigree were determined with serological methods. The ABO genotype was analyzed by polymerase chain reaction-sequence specific primer(PCR-SSP). The full coding region of alpha-l,2 fucosyltransferase (FUT1) gene of the pedigree was analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotype of the FUT1 gene were analyzed by cloning sequencing.@*RESULTS@#The rare para-Bombay blood type Bm@*CONCLUSION@#Two new alleles of FUT1 gene (h