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一例H-缺乏分泌型个体被发现。其血清学表现为：红细胞上无A、B、H抗原；唾液中有B、H抗原分泌；血清中检出了抗A抗体。推测其为类孟买OHmB型。在该个体FUT1等位基因编码区上发现两处单碱基突变（T460C、G1042A）。这两个点变异，将导致两个氨基酸的置换（Y154H、E348K）。同时也破坏了限制性内切酶RsaⅠ和AvaⅠ的作用部位。用PCR－RFLP法可检出此两种变异。用PCR－RFLP法证实，该个体为T460C、G1042A变异的纯合子。在136例随机个体中未能查出上述变异。将该FUT1基因转染COS－7细胞未能检出α2－FUT活性及证实H抗原的表达。该个体的FUT2基因与野生型一致。
One case of H-deficient secreted individuals was found. The serological manifestations were: no A, B and H antigens on erythrocytes; B and H antigens were secreted in saliva; anti-A antibodies were detected in serum. Speculated as Mumbai OHmB type. Two single base mutations (T460C, G1042A) were found on the coding region of the individual FUT1 alleles. These two point mutations will result in the substitution of two amino acids (Y154H, E348K). At the same time, the site of action of the restriction endonucleases RsaI and AvaI is also destroyed. Both PCR variants were detected by PCR-RFLP. The result of PCR-RFLP confirmed that the individual was homozygous for T460C and G1042A mutation. The mutation was not found in 136 randomized individuals. The FUT1 gene was transfected into COS-7 cells failed to detect α2-FUT activity and confirmed the H antigen expression. The individual’s FUT2 gene is identical to the wild type.