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

Gene(2019)

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摘要
•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).
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关键词
FUT1,Ah,Bh,h1,h3
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