Journal of Inherited Metabolic Disease

, Volume 8, Issue 2, pp 71–74 | Cite as

Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina

  • M. K. Wirtz
  • N. G. Kennaway
  • R. G. Weleber
Article

Abstract

Fibroblasts from four pyridoxine responsive and three non-responsive patients with gyrate atrophy of the choroid and retina have been examined. Responsive patients had higher activity of ornithine ketoacid transaminase (OKT) in cell homogenates and greater incorporation of radioactivity from14C-ornithine into protein in cultured cellsin situ compared to non-responsive patients. Complementation analysis of the cells from these seven patients was performed, based on the ratio of incorporation of14C/3H into protein in fused cells incubated in14C-ornithine and3H-leucine. Lack of positive complementation in these crosses suggests that pyridoxine responsive and non-responsive patients with gyrate atrophy represent different allelic mutations of the same genetic locus coding for OKT.

Keywords

Public Health Internal Medicine Retina High Activity Metabolic Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and MTP Press Limited 1985

Authors and Affiliations

  • M. K. Wirtz
    • 1
  • N. G. Kennaway
    • 1
  • R. G. Weleber
    • 2
  1. 1.Department of Medical GeneticsOregon Health Sciences UniversityPortlandUSA
  2. 2.Departments of Ophthalmology and Medical GeneticsOregon Health Sciences UniversityPortlandUSA

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