The blood group phenotype Oh (Bombay) is defined in routine blood grouping by the complete absence of A, B and H antigens on red blood cells and in body fluids, and by the presence of anti-A, anti-B and anti-H in serum1. This phenotype is extremely rare in Europe, where the frequency is estimated to be one case per million inhabitants2 while the frequency of heterozygosity for a non-functional FUT1 allele has been calculated to be 1 in 347 in the same population3. The phenotype arises due to inactivating alterations in two genes: FUT1 and FUT2, located on chromosome 19q13.3. In the classic Oh phenotype, a missense mutation in FUT1 (c.725T>G) is tightly linked to a deletion of FUT24,5, but many other mutations have been described2. The FUT1 gene encodes an α-1,2-fucosyltransferase (α2Fuc-T1 or H transferase), which synthesises blood group H antigens on type 2 glycan chains, for instance as part of glycosphingolipids and glycoproteins on red cells. The FUT2 (Se, secretor) gene is highly homologous to FUT1 and its expression is necessary for the presence of A, B, and H antigens (of type 1) in plasma and other body fluids6.
In this paper we report the serological and genetic characterisation of the Oh phenotype in three unrelated Polish blood donors. [...]
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