title: Duffy blood group system, phosphoglucomutase and glutamate-pyruvate transminase in homo- and heterozygous cases of mucoviscidosis.
abstract: The phenotype and genotype distributions and the gene frequencies of the Duffy blood group system and the phosphoglucomutase and glutamatepyruvate transaminase red blood cell enzyme systems were examined in mucoviscidosis homo- and heterozygotes, and the results were compared with the data for the average Hungarian population. In view of the amylase defect in mucoviscidosis, a study was made of the variations in distribution of the protein products of adjacent gene loci (Duffy and phosphoglucomutase), and of the association of identical geno-types (Duffy and phosphoglucomutase homo- and homozygosity, or hetero- and heterozygosity). In the mucoviscidosis homo- and heterozygotes, the percentage values agreed with those for the average population, both for the phenotypes and genotypes of the individual blood groups and the above enzymes, and for the gene frequencies. No differences specific for mucoviscidosis were found for Duffy and phosphoglucomutase. No common genetic regulation could be found between the adjacent gene loci (amylase and Duffy or phosphoglucomutase).
mesh_terms: D000410:Alanine Transaminase / Q000097:blood*; D001789:Blood Group Antigens; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D003550:Cystic Fibrosis / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D004375:Duffy Blood-Group System; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D010733:Phosphoglucomutase / Q000097:blood*
chemical_list: D001789:Blood Group Antigens; D004375:Duffy Blood-Group System; D000410:Alanine Transaminase; D010733:Phosphoglucomutase