Association of the human Lewis blood group Le(a-b-c-d-) with the failure of expression of alpha-3-L fucosyltransferase.
Two unrelated individuals are reported who lack alpha-3-L-fucosyltransferase activity in their serum and saliva. Both were blacks, one from the United States and the other from South Africa. No other of the tested members of their families lacked this enzyme. A survey of more than 2000 serum samples from both black and white South African blood donors, black United States donors and white United Kingdom donors failed to disclose another example of a serum deficient in alpha-3-L-fucosyltransferase activity. The two individuals lacking in alpha-3-L-fucosyltransferase activity both had the Lewis blood group phenotype Le(a-b-c-d-). No other persons with this phenotype have been reported. The absence of Lec activity in the two individuals who are deficient in alpha-3-L-fucosyltransferase is consistent with the interpretation that alpha-3-linked L-fucose is an essential part of the antigenic determinant recognised by the anti-Lec reagent used in this investigation.
D044383:Black People; D005260:Female; D005647:Fucosyltransferases / Q000097:blood / Q000235:genetics*; D005786:Gene Expression Regulation; D006602:Hexosyltransferases / Q000235:genetics*; D006801:Humans; D007983:Lewis Blood Group Antigens / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012463:Saliva / Q000201:enzymology; D013019:South Africa / Q000208:ethnology; D013781:Texas / Q000208:ethnology; D001741:Black or African American
D007983:Lewis Blood Group Antigens; D005647:Fucosyltransferases; D006602:Hexosyltransferases; C031692:galactoside 3-fucosyltransferase