Biochemical Genetics

, Volume 3, Issue 6, pp 609–615 | Cite as

Cell population density and phenotypic expression of tissue culture fibroblasts from heterozygotes of Lesch-Nyhan's disease (inosinate pyrophosphorylase deficiency)

  • Joseph Dancis
  • Rody P. Cox
  • Peter H. Berman
  • Valerie Jansen
  • M. Earl Balis


Radioautographic examination of skin fibroblasts grown in tissue culture from normal donors revealed heavy labeling of almost all cells following incubation with tritiated hypoxanthine. Cells from patients with Lesch-Nyhan's disease, lacking inosinate pyrophosphorylase, had only 10 grains or less per cell. When normal and abnormal cells were mixed prior to culture, there was a progressive increase, with culture time, in the percentage of heavily labeled cells so that by 96 hr, when the cells were confluent, over 95% of the cells were heavily labeled. Reduction of cell density by subculture produced a reversion to original values. Cultures from three obligatory heterozygotes revealed the expected mixed population of cells. This appears to be a practical approach to the identification of the heterozygote.


Tissue Culture Population Density Cell Population Cell Density Progressive Increase 
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Copyright information

© Plenum Publishing Corporation 1969

Authors and Affiliations

  • Joseph Dancis
    • 1
    • 4
  • Rody P. Cox
    • 1
    • 5
  • Peter H. Berman
    • 2
  • Valerie Jansen
    • 1
  • M. Earl Balis
    • 3
  1. 1.Departments of Pediatrics and MedicineNew York University School of MedicineNew York
  2. 2.Department of NeurologyChildren's HospitalPhiladelphia
  3. 3.Sloan-Kettering Division of Cornell University Graduate School of Medical SciencesNew York
  4. 4.The National Institute of Child Health and Human DevelopmentUSA
  5. 5.Health Research Council of the City of New YorkUSA

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