Biochemical Genetics

, Volume 1, Issue 1, pp 11–24 | Cite as

UDP-glucose: α-D-galactose-1-phosphate uridylyltransferase activity in cultured human fibroblasts

  • James D. Russell
  • Robert DeMars


Galactose-1-phosphate uridyl transferase activity of normal, heterozygous and galactosemic strains is determined throughout the culture cycle of human fibroblasts using a new direct method of assay. The enzyme activities of high-density, stationary-phase cultures define three nonoverlapping classes, which correspond to the genotypes of the donors. During rapid growth, however, galactosemic strains show near-normal transferase activity. The incorporation of 14C from 14C1-galactose by living cells is measured. While heterozygous strains do not appear to differ from normal controls, homozygous mutant cells incorporate 14C at about one-half the normal rate throughout the culture cycle. Variables affecting the assay are investigated and the implications of our results for further genetic studies of mutations affecting transferase are discussed.


Enzyme Activity Living Cell Normal Control Normal Rate Genetic Study 
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Copyright information

© Plenum Publishing Corporation 1967

Authors and Affiliations

  • James D. Russell
  • Robert DeMars

There are no affiliations available

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