H-deficient blood groups of Reunion Island. III. alpha-2-L-fucosyltransferase activity in sera of homozygous and heterozygous individuals.
Small amounts of H-enzyme activity (from 500 to 1,280 counts per minute [cpm]) were detected in sera of white H-deficient individuals (h/h; Reunion phenotype), while no significant H activity (less than 500 cpm) could be detected in sera of Indian H-deficient individuals (h/h; Bombay phenotype). The H-enzyme levels of the unaffected members of H-deficient pedigrees showed an H-related dosage effect. Heterozygous H/h individuals had only half as much H activity in sera (17,000 +/- 3,400 cpm) compared with homozygous H/H individuals (31,600 +/- 3,700 cpm). Data suggesting interactions between the H enzyme and the other gene specified glycosyltransferases working on the same oligosaccharide chains carrying combined ABH and Lewis antigens are analyzed in terms of their possible genetic or biochemical origin.
D000017:ABO Blood-Group System / Q000235:genetics*; D005647:Fucosyltransferases / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006602:Hexosyltransferases / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007195:Indian Ocean Islands; D007983:Lewis Blood Group Antigens / Q000235:genetics; D010375:Pedigree; D044465:White People; D000097631:Galactoside 2-alpha-L-fucosyltransferase
D000017:ABO Blood-Group System; D005647:Fucosyltransferases; D006602:Hexosyltransferases; D007983:Lewis Blood Group Antigens; D000097631:Galactoside 2-alpha-L-fucosyltransferase