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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

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Abstract

Inheritance of a mutation at the Rb-1 locus, which has been mapped to band q14 of human chromosome 13, results in predisposition to retinoblastoma. Cloned DNA segments homologous to arbitrary loci of human chromosome 13 and which reveal polymorphic restriction endonuclease recognition sequences, have been used to look for somatic genetic events that might occur during tumorigenesis. A comparison of constitutional and tumour genotypes from several cases indicates that tumorigenesis may result from the development of homozygosity for the mutant allele at the Rb-1 locus. The homozygosity in these cases results from mitotic nondisjunction, resulting in loss of the homologous wild-type chromosome, or from a mitotic recombination event.

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Author notes

  1. W. K. Cavenee

    Present address: Department of Microbiology and Molecular Genetics, University of Cincinnati Medical School, Cincinnati, Ohio, 45267, USA

Authors and Affiliations

  1. Howard Hughes Medical Institute and Department of Cellular Viral and Molecular Biology, University of Utah School of Medicine, Salt Lake City, Utah, 84132, USA

    W. K. Cavenee & R. L. White

  2. Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, 02114, USA

    T. P. Dryja

  3. The Ontario Cancer Institute and University of Toronto, Toronto, M4X 1K9, Canada

    R. A. Phillips, R. Godbout & B. L. Gallie

  4. The Clayton Ocular Oncology Center, and the Division of Hematology/Oncology, Childrens Hospital of Los Angleles, and the Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California, 90027, USA

    W. F. Benedict

  5. The Clayton Ocular Oncology Center, and the Division of Opthalmology, Childrens Hospital of Los Angleles, and the Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, California, 90027, USA

    A. L. Murphree

  6. Department of Pediatrics, M. D. Anderson Hospital and Tumor Institute, Houston, Texas, 77030, USA

    L. C. Strong

Authors
  1. W. K. Cavenee
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  2. T. P. Dryja
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  3. R. A. Phillips
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  4. W. F. Benedict
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  5. R. Godbout
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  6. B. L. Gallie
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  7. A. L. Murphree
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  8. L. C. Strong
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  9. R. L. White
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Cavenee, W., Dryja, T., Phillips, R. et al. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305, 779–784 (1983). https://doi.org/10.1038/305779a0

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  • DOI: https://doi.org/10.1038/305779a0

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