Literature DB >> 1150252

Rapid determination of hypoxanthine-guanine-phosphoribosyl transferase in human fibroblasts and amniotic cells.

I Willers, D P Agarwal, S Singh, W Schloot, H W Goedde.   

Abstract

A micromodification of the method of HGPRT and APRT assay is described, which measures the incorporation of 14C hypoxanthine and 14C adenine into cultured skin fibroblasts and amniotic cells grown on microtiter plates. Only about 10000 cells are needed per assay. By this method HGPRT deficient cells can be easily distinguished from normal cells. Investigations with respect to the effect of substrate concentrations and time of incubation have been carried out on some normal fibroblast cell lines, amniotic cell lines and 3 Lesch-Nyhan cell lines. Another modified method is described for quantitative determination of HGPRT activity by means of radio thin-layer chromatography.

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Year:  1975        PMID： 1150252     DOI： 10.1007/bf00278425

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


  10 in total

1.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

2.  Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.

Authors:  B Bakay; W L Nyhan
Journal:  Biochem Genet       Date:  1972-04       Impact factor: 1.890

3.  In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome.

Authors:  P J Benke; A Hebert; N Herrick
Journal:  N Engl J Med       Date:  1973-08-30       Impact factor: 91.245

4.  Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase.

Authors:  P J Benke; N Herrick; A Herbert
Journal:  Biochem Med       Date:  1973-10

5.  An electrophoretic method for detecting hypoxanthine-guanine phosphoribosyl transferase variants.

Authors:  V M Der Kaloustian; R Byrne; W J Young; B Childs
Journal:  Biochem Genet       Date:  1969-06       Impact factor: 1.890

6.  X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.

Authors:  B R Migeon
Journal:  Biochem Genet       Date:  1970-06       Impact factor: 1.890

7.  The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis.

Authors:  B Bakay; W L Nyhan
Journal:  Biochem Genet       Date:  1971-02       Impact factor: 1.890

8.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Authors:  J E Seegmiller; F M Rosenbloom; W N Kelley
Journal:  Science       Date:  1967-03-31       Impact factor: 47.728

9.  Purine and pyrimidine pool sizes and purine base utilization in human lymphocytes and cultured lymphoblasts.

Authors:  T Fields; L Brox
Journal:  Can J Biochem       Date:  1974-06

10.  Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.

Authors:  J A McDonald; W N Kelley
Journal:  Science       Date:  1971-02-19       Impact factor: 47.728
  10 in total
  2 in total

1.  Phenotypic interaction studies of HPRT mutant and normal human fibroblasts.

Authors:  I Willers; S Singh; H W Goedde
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

Authors:  D Halley; M J Heukels-Dully
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318
  2 in total

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