Article

Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus “syndrome”

  1. Dr. Heiko Traupe1,*,
  2. Egon Macher1,
  3. Henning Hamm1,
  4. Rudolf Happle2,
  5. John M. Opitz Editor,
  6. James F. Reynolds Editor

Article first published online: 5 JUN 2005

DOI: 10.1002/ajmg.1320320203

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 32, Issue 2, pages 155–157, February 1989

Additional Information

How to Cite

Traupe, H., Macher, E., Hamm, H., Happle, R., Opitz, J. M. and Reynolds, J. F. (1989), Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus “syndrome”. Am. J. Med. Genet., 32: 155–157. doi: 10.1002/ajmg.1320320203

Author Information

  1. 1

    Department of Dermatology, Unviersity of Münster, Münster Federal Republic of Germany

  2. 2

    Department of Dermatology, University of Nijmegen, Nijmegen, The Netherlands

*Department of Human Genetics, University of Nijmegen, Geert Grooteplein zuid 20, NL-6500 HB Nijmegen, The Netherlands

Publication History

  1. Issue published online: 5 JUN 2005
  2. Article first published online: 5 JUN 2005
  3. Manuscript Revised: 1 AUG 1988
  4. Manuscript Received: 2 SEP 1987

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Keywords:

  • monogenic inheritance;
  • polygenic inheritance;
  • tumor syndromes;
  • genetic equilibrium

Abstract

Dysplastic nevi represent precursor lesions harboring an increased risk of evolving into melanoma. Their association with familial melanoma is usually considered a monogenic syndrome with autosomal dominant transmission. To test this concept we estimated the mutation rates. When derived directly from the sporadic occurrence of the trait, the mutation rate is exceedingly high (0.9%–2.5%), whereas, as estimated with the aid of Haldane's formula it would be 0.007% to 0.02%. Accordingly, newly arising mutation would out-number eliminated mutations by 100:1. Even if only 80% of all old mutations are passed onto the next generation, this ratio of 100:1 would rapidly change. After only a few generations, 10% of the world population should be affected with the dysplastic nevus “syndrome”. The apparent lack of a genetic equilibrium between newly arising and eliminated mutations is not compatible with autosomal dominant inheritance of the dysplastic nevus “syndrome”.

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