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Detection of carriers for duchenne muscular dystrophy. Quality control of creatine kinase assay

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Summary

A report by Bullock and coworkers has emphasized the need for standardization of the CK assay in carrier detection for DMD. A collaborative study, according to a well-specified design and involving two laboratories in Paris and Lyon, indicates that the reliability of this assay can be improved provided that special attention is paid to information about participating subjects, laboratory protocol, and repeated sampling. On a random sample of young women, mean and variance of 1n(CK) are 1.66 and 0.015 respectively. Within and between variance components are in a 3:4 ratio, homogeneous between populations. Additional use of a common test serum should insure good reliability of this assay among laboratories.

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Authors and Affiliations

  1. Chaire de Génétique Médicale (Prof. J. M. Robert), Hotel Dieu, 69288, Lyon cedex 1, France

    H. Plauchu

  2. Institut de Pathologic Moléculaire (Prof. G. Schapira), INSERM U.15, 24 rue du Faubourg Saint Jacques, 75654, Paris cedex 14, France

    C. Junien & R. Said

  3. Laboratoire d'Enzymologie (Prof. J. Cotte), Hopital Debrousse, 69005, Lyon, France

    I. Maire

  4. Laboratoire d'Anthropobiologie, Université Paris 7, Tour 16, 2, place Jussieu, 75251, Paris cedex 5, France

    R. Gozlan & J. M. Lalouel

Authors
  1. H. Plauchu
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  2. C. Junien
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  3. I. Maire
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  4. R. Said
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  5. R. Gozlan
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  6. J. M. Lalouel
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Plauchu, H., Junien, C., Maire, I. et al. Detection of carriers for duchenne muscular dystrophy. Quality control of creatine kinase assay. Hum Genet 61, 205–209 (1982). https://doi.org/10.1007/BF00296443

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  • DOI: https://doi.org/10.1007/BF00296443

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