Sequence analysis of the human fucosyltransferase 1 and 2 genes in Tibetan blood donors: identification of three novel alleles

Transfusion. 2014 Jul;54(7):1847-50. doi: 10.1111/trf.12577. Epub 2014 Feb 17.


Background: The α(1,2)-fucosyltransferase gene 1 (FUT1) and 2 (FUT2), respectively, regulate H antigen synthesis in red blood cells and body fluids. Genetic polymorphisms of FUT1 and FUT2 are ethnically and geographically specific.

Study design and methods: Healthy unrelated Tibetan blood donors (n = 200) from the Tibet Autonomous Region of China were recruited for this study. The entire FUT1 and FUT2 coding regions were amplified and sequenced. The haplotypes including novel single-nucleotide polymorphisms (SNPs) were determined by clone sequencing.

Results: In Tibetans, the major FUT1 allele was wild-type allele with a frequency of 97.75%. One novel FUT1 allele was defined by a novel synonymous mutation (846T>G). The two most common FUT2 alleles were functional allele Se(357) with a frequency of 32.75% and nonfunctional allele se(357,385) with a frequency of 55%. Two new FUT2 alleles were found at low frequency. They were characterized by two novel SNPs on the basis of se(357,385) : 617 T>G (V206G) and 841 G>A (G281R).

Conclusion: Three new alleles in FUT1 and FUT2 genes were identified in the study. The allelic polymorphisms of FUT1 and FUT2 in Tibetans show a population-specific manner.

MeSH terms

  • Alleles
  • Base Sequence
  • Blood Donors*
  • Fucosyltransferases / genetics*
  • Gene Frequency
  • Genetics, Population
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Tibet


  • Fucosyltransferases
  • galactoside 2-alpha-L-fucosyltransferase