Literature DB >> 3989823

Cell surface abnormality in clones of skin fibroblasts from a carrier of Duchenne muscular dystrophy.

J Hillier, G E Jones, H E Statham, J A Witkowski, V Dubowitz.   

Abstract

We have previously reported that skin fibroblasts from patients with Duchenne muscular dystrophy (DMD) have a lower intercellular adhesiveness than control cells, and that cells from carriers of DMD have normal adhesiveness instead of the expected intermediate value. We have now cloned skin fibroblasts from a carrier of DMD (subject AS) who is also heterozygous for G6PD B/G6PD Mediterranean and determined the intercellular adhesiveness and G6PD phenotypes of the clones. G6PD activity was determined using the 2d-G6P/G6P ratio method. Normal cells had a percentage utilisation of 7.31% and uncloned cells from AS a value of 25.16%. Of 16 clones, 15 had normal values (mean 8.72%) while one clone was G6PD Med with a value of 57.5%. Mean intercellular adhesiveness of normal and uncloned cells from AS were 2.95 and 2.90 respectively. Of 11 clones tested, nine had normal values of adhesiveness (mean 3.1) and all these clones were G6PD B. The single G6PD Med clone had a value of 0.88, compared with 1.39 for DMD cells. We have no explanation at present for the single clone that was G6PD B but DMD-like on aggregation.

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Year:  1985        PMID: 3989823      PMCID: PMC1049392          DOI: 10.1136/jmg.22.2.100

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  20 in total

1.  Cell disposition and adhesiveness in the developing chick neural retina.

Authors:  G E Jones
Journal:  J Embryol Exp Morphol       Date:  1977-08

2.  Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.

Authors:  B R Migeon
Journal:  Am J Hum Genet       Date:  1971-03       Impact factor: 11.025

3.  The measurement of cell adhesiveness by an absolute method.

Authors:  A S Curtis
Journal:  J Embryol Exp Morphol       Date:  1969-11

4.  X-chromosome inactivation and the Xg locus.

Authors:  P J Fialkow
Journal:  Am J Hum Genet       Date:  1970-07       Impact factor: 11.025

5.  Cluster formation in monolayer cultures of normal and diseased human muscle.

Authors:  M S Ecob-Johnston; A E Brown
Journal:  Exp Neurol       Date:  1981-02       Impact factor: 5.330

6.  Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

Authors:  P A Jacobs; P A Hunt; M Mayer; R D Bart
Journal:  Am J Hum Genet       Date:  1981-07       Impact factor: 11.025

7.  Non-inactivation of an x-chromosome locus in man.

Authors:  L J Shapiro; T Mohandas; R Weiss; G Romeo
Journal:  Science       Date:  1979-06-15       Impact factor: 47.728

8.  Reduced adhesiveness between skin fibroblasts from patients with Duchenne muscular dystrophy.

Authors:  G E Jones; J A Witkowski
Journal:  J Neurol Sci       Date:  1979-11       Impact factor: 3.181

9.  2-deoxy-glucose-6-phosphate utilization in the study of glucose-6-phosphate dehydrogenase mosaicism.

Authors:  A M Ferraris; P Giuntini; S Galiano; G F Gaetani
Journal:  Am J Hum Genet       Date:  1981-03       Impact factor: 11.025

10.  Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins.

Authors:  M R Gomez; A G Engel; G Dewald; H A Peterson
Journal:  Neurology       Date:  1977-06       Impact factor: 9.910

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