Sequence analysis of α-(1, 2)-fucosyltransferase gene in nine Chinese individuals with Para-Bombay phenotype

To analyze the sequence of α-(1, 2)-fucosyltransferase gene (FUT1) in nine individuals with Para-Bombay phenotype. Para-Bombay phenotype was defined according to the serologic characteristics and ABO genotypes. The full coding region of FUT1 was amplified, genotype and haplotype were analyzed by direct and TOPO cloning sequencing which was used to discriminate heterozygous mutations of FUT1. These nine individuals were identified as three Para-Bombay A (Ah), six Para-Bombay B (Bh) according to serologic characteristics and ABO genotypes. According to the direct and cloning sequencing results of the full coding region of FUT1, five genotypes and five haplotypes were found in these nine individuals. Two complex mutations of FUT1 were discovered, which were h1h547 − 552delAG + 814A > G (c.547 − 552delAG, p.Arg183Argfs ∗ 86; c.547 − 552delAG, p.Arg183Argfs ∗ 86 + c.814A > G, p.lle272Val) and h755G > Ch547 − 552delAG + 755G > C (c.755G > C, p.Arg183Argfs ∗ 86; c.547 − 548delAG, p.Arg183Argfs ∗ 86 + c.755G > C, p.Arg253Pro), the genotype of h755G > Ch547 − 552delAG + 755G > C was reported for the first time, and three kinds of known genotype (h1h1, h3h3, h1h3) were found also in these nine Chinese individuals with Para-Bombay phenotype in the present study. In this way, the FUT1 mutation showed a distinct geographic and ethnic range. •We reported the sequencing results of FUT1 gene in nine Chineses with Para-Bombay phenotype.•The full coding region of FUT1 was amplified. Genotype and haplotype were analyzed by direct and TOPO cloning sequencing.•Five genotypes and five haplotypes were found in these individuals.•Two complex mutations of FUT1 were discovered. One complex mutation was discovered for the first time, which was h755G > Ch547-552delAG + 755G > C (c.755G > C, p.Arg183Argfs*86; c.547-548delAG, p.Arg183Argfs*86 + c.755G > C, p.Arg253Pro).