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  • Title: [Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population].
    Author: Xu XG, Hong XZ, Wu JJ, Ma KR, Fu QH, Yan LX.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Dec; 22(6):657-60. PubMed ID: 16331565.
    Abstract:
    OBJECTIVE: To investigate the h4 allele (C35T) frequency of alpha-1,2-fucosyltransferase gene in Chinese population. METHODS: 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. 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.
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