Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population

Objective To investigate the h4 allele (C35T) frequency of alpha-1,2-fucosyltransferase ( FUT1) gene in Chinese population. Methods The polymerase chain reaction-restriction fragment length polymophism(PCR-RFLP) method for indentifying C35T variant was established by using PCR to amplify a 125 bp FUT1 gene fragment, including C35T variant sequence, and the PCR product was digested by Hae Ⅲ restriction enzyme. One hundred and fifty-eight random samples from Chinese blood donor were screened by PCR-RFLP. Results Among 158 Chinese individuals with normal ABO and H blood group phenotypes, 8 and 83 were homozygous with 35T/T and 35C/C, respectively, while 67 were heterozygous with 35C/T. The allele frequencies were compatible with Hardy-Weinberg equilibrium. Conclusion The C35T substitution of FUT1 gene is not a mutation which gives rise to a non-functional h allele responsible for para-Bombay phenotype but a single nucleotide polymorphism in Chinese population.