title: IEF-microheterogeneity of human PK-R: applicability for prenatal diagnosis.
abstract: Microheterogeneity of human erythrocyte pyruvate kinase (PK-R) can be obtained by isoelectric focusing (IEF) in ultrathin polyacrylamide gels followed by immunological visualization methods. Using this method to study whether a polymorphismus of PK-R occurs, we could not find any deviations from the normal PK pattern in the case of samples from 100 German donors as well as at a lower number of PK samples from European, African and Asian donors. Furthermore, we compared the IEF-pattern of PK mutants with that of normal new-borns and of foetal PK-samples. Our results show that IEF-microheterogeneity of PK may serve as a tool for prenatal diagnosis in the case of families which are effected by a severe PK deficiency.
authors.affiliation: Institute of Biochemistry, Humboldt-University, Berlin, GDR.
authors.forename: D
authors.initials: D
authors.lastname: Megow
authors.forename: J
authors.initials: J
authors.lastname: Krätschmer
authors.forename: G
authors.initials: G
authors.lastname: Jacobasch
mesh_terms: D004912:Erythrocytes / Q000201:enzymology*; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D009154:Mutation; D011296:Prenatal Diagnosis; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism
chemical_list: D011770:Pyruvate Kinase