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

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)609-615
Number of pages7
JournalBiochemical Genetics
Volume3
Issue number6
DOIs
StatePublished - Dec 1 1969

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Biochemistry
  • Molecular Biology
  • Genetics

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