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  • Title: A newly identified nonsecretor allele of the human histo-blood group alpha(1,2)fucosyltransferase gene (FUT2).
    Author: Yu LC, Lee HL, Chu CC, Broadberry RE, Lin M.
    Journal: Vox Sang; 1999; 76(2):115-9. PubMed ID: 10085528.
    Abstract:
    BACKGROUND AND OBJECTIVES: The human Secretor alpha(1, 2)fucosyltransferase gene determines the ABH secretor status and influences the Lewis phenotype of an individual. Studies were carried out on the Lewis (a+b-) nonsecretors of different groups indigenous to Taiwan to demonstrate their se genotypes. METHODS: The Lewis phenotype of the blood samples was determined by a microplate method. The se genotypes of the individuals with the Lewis (a+b-) phenotype were analyzed by a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method designed for the se alleles reported previously. PCR and cloning techniques were used to determine the coding sequence of the novel se gene. RESULTS: A new se allele, se685, with a three-nucleotide deletion of GTGGT to GT in the coding region of nucleotides 685 through 689 was identified in a Le (a+b-) nonsecretor from the Ami tribe indigenous to Taiwan. The deletion predicts the loss of the amino acid Val230 in the corresponding secretor enzyme's C-terminal segment. The distribution of the se685 allele in the Ami tribe was further verified by PCR-RFLP analysis. CONCLUSION: The Se gene exhibits heterogeneity with some Se alleles being common but others displaying a unique distribution in different ethnic populations. The newly identified se685 allele seems to exist only in the Ami tribe indigenous to Taiwan.
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