Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency. An unusual method.
The defective PK variant of a patient with a severe form of hemolytic anemia was characterized by its inability to undergo a normal 'proteolytic maturation.' In obligatory heterozygotes it could be proved that red cells contained different PK species, some of them sensitive and the others partially resistant to the action of trypsin.
D001797:Blood Protein Electrophoresis; D004912:Erythrocytes / Q000201:enzymology; D005808:Genes, Recessive; D006580:Genetic Carrier Screening / Q000379:methods*; D014644:Genetic Variation; D006801:Humans; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics; D014357:Trypsin / Q000494:pharmacology
D011770:Pyruvate Kinase; D014357:Trypsin