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Heterozygote testing in cystic fibrosis

Metachromasia in cultured white blood cells

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Abstract

A modified method of white blood cell culturing is described. Metachromasia could be demonstrated in transformed leucocytes of probands homozygotic for cystic fibrosis (CF) and heterozygote carriers of the CF-gene. Since these staining properties are known to occur in other inherited metabolic diseases heterozygote detecting should be restricted to CF-families and not applied in the general population as a screening test.

Zusammenfassung

Es wird über eine modifizierte Kultivierungsmethode weißer Blutzellen berichtet. In transformierten Leukocyten wurde Metachromasie bei Patienten mit Mucoviscidose und heterozygoten Erbträgern nachgewiesen. Da auch bei anderen selteneren angeborenen Stoffwechselstörungen Metachromasie nachgewiesen werden kann, ist der Heterozygotennachweis nur bei Familien mit bekanntem Genstatus anwendbar.

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Authors and Affiliations

  1. Institut für Humangenetik und vergleichende Erbpathologie, Frankfurt am Main, Germany

    M. Geisler, S. W. Bender, Ch. Mohrmann, J. Svejcar, K.-H. Degenhardt & O. Hoevels

  2. Universitäts-Kinderklinik, Frankfurt am Main, Germany

    M. Geisler, S. W. Bender, Ch. Mohrmann, J. Svejcar, K.-H. Degenhardt & O. Hoevels

Authors
  1. M. Geisler
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  2. S. W. Bender
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  3. Ch. Mohrmann
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  4. J. Svejcar
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  5. K.-H. Degenhardt
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  6. O. Hoevels
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Additional information

Mit Unterstützung durch die Deutsche Forschungsgemeinschaft, Bad Godesberg.

Erste Ergebnisse vorgetragen am 11. 6. 1971 auf dem 3. Deutschen Symposion über Mucoviscidose, Erlangen.

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Geisler, M., Bender, S.W., Mohrmann, C. et al. Heterozygote testing in cystic fibrosis. Z. Kinder-Heilk. 112, 133–141 (1972). https://doi.org/10.1007/BF00443500

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  • DOI: https://doi.org/10.1007/BF00443500

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