Summary
The one gene—one enzyme concept of Beadle and Tatum has been further developed and expanded in recent years. Concurrently, our notions of mechanisms, consequences, and rate of mutations have changed. Estimates of mutation rate vary from 10−4 to 10−8 or 10−9, depending on the kind of mutation studied. The concept of neutral and tolerable mutations introduces new aspects also in regard to the biochemical individuality and the great number of polymorphisms. In contrast to earlier publications, the influence of control gene mutations of the Jacob-Monod type could be demonstrated in only a few exceptional human diseases.
Zusammenfassung
Das Ein-Gen — ein Enzym — Konzept von Beadle und Tatum ist in den vergangenen Jahren wesentlich erweitert worden, ebenso mußten unsere Vorstellungen vom Wesen und der Häufigkeit von Mutationen revidiert werden. Je nach Betrachtungsweise crgeben sich Mutationshäufigkeiten zwischen 10−4 und 10−8 oder 10−9. Die Betrachtung sog. neutraler oder tolerabler Mutationen wirft besondere Probleme auf, besonders auch in bezug auf die biochemische Individualität und die zahlreichen Polymorphismen. Die Bedeutung von Kontrollgenmutationen im Sinne von Jacob und Monod konnte für den Menschen und höhere Organismen bisher nur in Ausnahmefällen wahrscheinlich gemacht werden.
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Nach einem Vortrag auf der Tagung der Gesellschaft für Biologische Chemie und der deutschen Gesellschaft für klinische Chemie, Bad Neuenahr, Oktober 1970.
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Fuhrmann, W. Zur Genetik der Stoffwechseldefekte. Klin Wochenschr 49, 565–570 (1971). https://doi.org/10.1007/BF01485326
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DOI: https://doi.org/10.1007/BF01485326