Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency. An unusual method.

Human genetics ·Vol. 47 ·No. 3 ·1979-04-05 ·Pages 339-42

Kahn A, Marie J, Vives-Corrons JL

Abstract

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.

MeSH Terms

Blood Protein Electrophoresis Erythrocytes/enzymology Genes, Recessive Genetic Carrier Screening/methods Genetic Variation Humans Pyruvate Kinase/deficiency,genetics Trypsin/pharmacology

Chemicals

Pyruvate Kinase Trypsin

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Kahn A

Marie J

Vives-Corrons J L

References (9)

9 references, click to expand

Significance of the electrophoretic modifications of defective pyruvate kinase variants. Study of six new observations.
Clin Chim Acta. 1979 Apr 2;93(1):61-9 PMID: 436300
Electrophoretic and kinetic studies of mutant erythrocyte pyruvate kinases.
Blood. 1974 Apr;43(4):537-48 PMID: 4816842
A Spanish family with erythrocyte pyruvate kinase deficiency: contribution of various immunologic methods in the study of the mutant enzyme.
Clin Chim Acta. 1977 Feb 15;75(1):71-8 PMID: 403035
The genetic system of the L-type pyruvate kinase forms in man. Subunit structure, interrelation and kinetic characteristics of the pyruvate kinase enzymes from erythrocytes and liver.
Biochim Biophys Acta. 1978 Mar 14;523(1):59-74 PMID: 629993
Molecular mechanism of erythrocyte pyruvate kinase deficiency.
Humangenetik. 1975 Oct 7;29(4):271-80 PMID: 809344
Human erythrocyte pyruvate kinase. Total purification and evidence for its antigenic identity with L-type enzyme.
Biochim Biophys Acta. 1977 Mar 15;481(1):96-104 PMID: 402946
ON THE NATURE OF ALLOSTERIC TRANSITIONS: A PLAUSIBLE MODEL.
J Mol Biol. 1965 May;12 :88-118 PMID: 14343300
Multimolecular forms of pyruvate kinase from rat and other mammalian tissues. I. Electrophoretic studies.
J Biochem. 1972 Jun;71(6):1043-51 PMID: 4342282
Evidence for a postsynthetic proteolytic transformation of human erythrocyte pyruvate kinase into L-type enzyme.
FEBS Lett. 1977;78(1):91-4 PMID: 872942

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00321027

Published

1979-04-05

Pages

339-42

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00321027 View journal details

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Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency. An unusual method.

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