title: C35T mutation could slightly decrease the activity of human α-(1,2)-fucosyltransferase.
abstract: OBJECTIVE
  The C35T mutant α-(1,2)-fucosyltransferase (FUT1) gene had been reported related to the para-Bombay phenotype, but recently, our laboratory found that the C35T was a polymorphism in the Chinese population. This study aims at further clarifying the property of C35T mutant FUT1.
  
  
  METHODS
  The mutant C35T FUT1 gene was cloned into expression vector in vitro, the mRNA expression was analyzed by real-time quantitative polymerase chain reaction (PCR), and the mutant enzyme's activity was determined in vitro.
  
  
  RESULTS
  The results showed that the frequencies of 35C and 35T alleles were 0.735 and 0.265, respectively. The FUT1 mRNA level of transfected cells with C35T recombination vector showed 99.85% of the wild-type FUT1 transfected cells. The enzyme relative activity of transfected cell lysates with C35T FUT1 recombination vector was 79.45% compared with that of the wild-type FUT1 transfected cell lysates. The K(m)(phenyl-gal) value of enzyme encoded by C35T allele was 0.5 times higher than that of the enzyme encoded by FUT1 wild-type allele.
  
  
  CONCLUSIONS
  These results suggested that FUT1 C35T was a polymorphism in the Chinese population and did not affect its mRNA transcription, but could slightly decrease the activity of human α-(1,2)-fucosyltransferase in vitro.
authors.affiliation: Blood Center of Zhejiang Province, Wulin Road 345, Hangzhou, Zhejiang Province 310006, People's Republic of China.
authors.forename: S
authors.initials: S
authors.lastname: Tao
authors.forename: Y
authors.initials: Y
authors.lastname: He
authors.forename: Y
authors.initials: Y
authors.lastname: Ying
authors.forename: X
authors.initials: X
authors.lastname: Hong
authors.forename: X
authors.initials: X
authors.lastname: Xu
authors.forename: F
authors.initials: F
authors.lastname: Zhu
authors.forename: H
authors.initials: H
authors.lastname: Lv
authors.forename: L
authors.initials: L
authors.lastname: Yan
mesh_terms: D005647:Fucosyltransferases / Q000235:genetics* / Q000502:physiology*; D006801:Humans; D009154:Mutation; D000097631:Galactoside 2-alpha-L-fucosyltransferase
chemical_list: D005647:Fucosyltransferases; D000097631:Galactoside 2-alpha-L-fucosyltransferase