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

Background The α(1,2)‐fucosyltransferase gene 1 ( FUT 1 ) and 2 ( FUT 2 ), respectively, regulate H antigen synthesis in red blood cells and body fluids. Genetic polymorphisms of FUT 1 and FU T2 are ethnically and geographically specific. Study Design and Methods Healthy unrelated T ibetan blood donors (n = 200) from the T ibet A utonomous R egion of C hina were recruited for this study. The entire FUT 1 and FUT 2 coding regions were amplified and sequenced. The haplotypes including novel single‐nucleotide polymorphisms ( SNP s) were determined by clone sequencing. Results In T ibetans, the major FUT 1 allele was wild‐type allele with a frequency of 97.75%. One novel FUT 1 allele was defined by a novel synonymous mutation (846 T > G ). The two most common FUT 2 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 FUT 2 alleles were found at low frequency. They were characterized by two novel SNPs on the basis of se 357,385 : 617 T > G ( V 206 G ) and 841 G > A ( G 281 R ). Conclusion Three new alleles in FUT 1 and FUT 2 genes were identified in the study. The allelic polymorphisms of FUT 1 and FUT 2 in Tibetans show a population‐specific manner.