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Molecular analysis of gene deletion in aniridia-Wilms tumor association

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Summary

Hybrid clones were produced from the fusion of Chinese hamster cells and human fibroblasts from a patient with the aniridia-Wilms tumor association (AWTA). The DNA from the parental cells and the hybrid clones was screened by Southern blot and DNA hybridization with probes for the human insulin and Ha-ras-1 genes. Two alleles for the Ha-ras-1 gene were shown to exist in the AWTA cells by restriction fragment length polymorphism. One hybrid clone, containing a single allele for Ha-ras-1 was shown to contain a single chromosome 11 with a cytogenetically visible deletion at 11p13. The DNA from this hybrid contained the human genes for insulin, Aγ, Gγ, Ha-ras-1, and calcitonin, but lacked any human sequences homologous to a human catalase cDNA. This clone was also shown to express human lactate dehydrogenase A (LDH A) activity. These data indicate that the deletion of the affected chromosome in this AWTA patient begins distal to LDH A and includes band 11p13, but does not extend to calcitonin or other genes thought to be located in the distal half of chromosome 11p.

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Authors and Affiliations

  1. Department of Microbiology, University of Toronto, M5S 1A8, Toronto, Ontario, Canada

    Effie E. Michalopoulos, P. J. Bevilacqua, Nancy Stokoe & W. H. Lewis

  2. Department of Surgery, University of Toronto, M5S 1A8, Toronto, Ontario, Canada

    Effie E. Michalopoulos, P. J. Bevilacqua, Nancy Stokoe & W. H. Lewis

  3. Department of Medical Genetics, University of Toronto, M5S 1A8, Toronto, Ontario, Canada

    V. E. Powers & H. F. Willard

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  1. Effie E. Michalopoulos
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  2. P. J. Bevilacqua
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  3. Nancy Stokoe
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  4. V. E. Powers
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  5. H. F. Willard
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  6. W. H. Lewis
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Michalopoulos, E.E., Bevilacqua, P.J., Stokoe, N. et al. Molecular analysis of gene deletion in aniridia-Wilms tumor association. Hum Genet 70, 157–162 (1985). https://doi.org/10.1007/BF00273074

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  • DOI: https://doi.org/10.1007/BF00273074

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