Abstract
BackgroundTo analyze the sequence of α-(1, 2)-fucosyltransferase gene (FUT1) in nine individuals with Para-Bombay phenotype. MethodsPara-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. ResultsThese 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. ConclusionTwo 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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
