title: Two Novel α 1,2-Fucosyltransferase Alleles in an H-Deficient Phenotype Individual.
abstract: BACKGROUND
  Abnormal α1,2-fucosyltransferase activity due to gene mutation results in decreased synthesis of H antigen and leads to an H-deficient phenotype. Here we studied the underlying molecular mechanisms in 7 Chinese blood donors with the H-deficient phenotype.
  
  
  METHODS
  Red blood cell typing was performed using standard serologic tests, and ABO genotype was analyzed using ABO polymerase chain reaction with sequence-specific primer tests. The coding sequence of the FUT1 gene was amplified using the specific primers. The FUT1 alleles were identified by a pCRII-TOPO carrier for TOPO TA cloning sequencing.
  
  
  RESULTS
  The H-deficient phenotype frequency was estimated to be approximately 1/30,000 (6/159,515) in the Chinese Han population. The FUT1 gene mutation was demonstrated in 6 Chinese blood donors with the H-deficient phenotype. In only 1 case, no mutation was detected. Novel FUT1 alleles were found in 1 donor. One of these novel FUT1 alleles showed nucleotide 35C>T and 748C>T site mutations that resulted in amino acid substitution of Ala to Val and Trp to Arg at positions 11 and 250, respectively. Another novel FUT1 allele had a nucleotide 655G>C site mutation, causing amino acid substitution of Leu to Val at position 219.
  
  
  CONCLUSIONS
  Two novel FUT1 alleles, 35T+748T and 655C, were identified that may greatly diminish the activity of α1,2-fucosyltransferase and result in the H-deficient phenotype.
authors.affiliation: Department of Transfusion Research, DongGuang Blood Center, DongGuan City, China.
authors.forename: Ziyi
authors.initials: Z
authors.lastname: He
authors.affiliation: Department of Transfusion Research, DongGuang Blood Center, DongGuan City, China.
authors.forename: Fuping
authors.initials: F
authors.lastname: Liu
keywords: Blood group; FUT1 gene; H-deficient phenotype