BACKGROUND: The para-Bombay phenotype often results from a silenced beta-D-galactoside 2-alpha-fucosyltransferase 1 (FUT1) gene (h/h) but an active FUT2 (Se/Se or Se/se) gene. We identified a para-Bombay phenotype with two novel mutations in the FUT1 gene and homozygous mutated FUT2 (se(357, 385) / se(357, 385)) genes.
STUDY DESIGN AND METHODS: Red blood cell phenotype was detected by using a standard serologic technique. The entire coding regions of the FUT1 and FUT2 genes were amplified and direct sequenced using genomic DNA.
RESULTS: No ABH substance was detected on the surface of the proband's red blood cells. Anti-A, anti-B, and anti-H were identified in serum. Genetic studies indicated that the proband's ABO genotyping was A102/O01 and that the FUT2 phenotype was se(357, 385) / se(357, 385). The sample was homozygous for two FUT1 mutations: c.958insG and c.961G> A.
CONCLUSION: Two novel FUT1 mutations have been identified in the proband's FUT1 gene. The insertion mutation in the FUT1 that caused a shift of the open reading frame and formed a termination codon early at Amino Acid Position 334 may be the main reason for H deficiency in this case.
引用本文： . . 华西虚拟期刊, 2000, 1(1): 93-96-. doi: 10.1111/trf.13879 复制