Literature DB >> 162438

Erythrocyte enzyme deficiencies assessed with a miniature centrifugal analyzer.

S Fielek, H W Mohrenweiser.   

Abstract

Methods for assaying 16 erythrocyte enzymes have been adapted to the miniature centrifugal analyzer. Less than 15 micro L of whole blood is required for all 16 assays. Variation attributable to temporal effects, rotor effects, and random residual error is minor. Initial population studies of blood from adults and cord-blood samples suggest a CV of less than 12% for 12 of the 16 enzymes; thus it should be possible to identify the heterozygous deficient individual. Preliminary data suggest that three such individuals, with enzyme activity (adenylate kinase, pyruvate kinase, phosphoglycerate kinase) about half the expected, have been identified, as well as two individuals deficient in glucose-6-phosphate dehydrogenase.

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Year:  1979        PMID: 162438

Source DB:  PubMed          Journal:  Clin Chem        ISSN: 0009-9147            Impact factor:   8.327


  16 in total

1.  Characterization of a series of electrophoretic and enzyme activity variants of human glucose-phosphate isomerase.

Authors:  H W Mohrenweiser; P T Wade; K H Wurzinger
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

2.  Studies of the purine analog associated modulation of human erythrocyte acid phosphatase activity.

Authors:  K H Wurzinger; J E Novotny; H W Mohrenweiser
Journal:  Mol Cell Biochem       Date:  1985-03       Impact factor: 3.396

Review 3.  A revised estimate of the amount of genetic variation in human proteins: implications for the distribution of DNA polymorphisms.

Authors:  J V Neel
Journal:  Am J Hum Genet       Date:  1984-09       Impact factor: 11.025

4.  A "disproportion" between the frequency of rare electropmorphs and enzyme deficiency variants in Amerindians.

Authors:  H W Mohrenweiser; J V Neel
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

5.  ACP1GUA-1--a low-activity variant of human erythrocyte acid phosphatase: association with increased glutathione reductase activity.

Authors:  H W Mohrenweiser; J E Novotny
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

6.  Characterization of ACP1TIC-1, an electrophoretic variant of erythrocyte acid phosphatase restricted to the Ticuna Indians of central Amazonas.

Authors:  C M Yoshihara; H W Mohrenweiser
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

7.  Hominoid triosephosphate isomerase: regulation of expression of the proliferation specific isozyme.

Authors:  S E Old; L E Landa; H W Mohrenweiser
Journal:  Mol Cell Biochem       Date:  1989-08-15       Impact factor: 3.396

8.  Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci.

Authors:  H W Mohrenweiser
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

9.  Characterization of two new electrophoretic variants of human triosephosphate isomerase: stability, kinetic, and immunological properties.

Authors:  J Asakawa; H W Mohrenweiser
Journal:  Biochem Genet       Date:  1982-02       Impact factor: 1.890

10.  The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes.

Authors:  C Satoh; J V Neel; A Yamashita; K Goriki; M Fujita; H B Hamilton
Journal:  Am J Hum Genet       Date:  1983-07       Impact factor: 11.025

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