Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the h4 allele (C35T) frequency of alpha-1,2-fucosyltransferase gene in Chinese population.</p><p><b>METHODS</b>The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for identifying 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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>