Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina
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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.
KeywordsPublic Health Internal Medicine Retina High Activity Metabolic Disease
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- Shih, V. E., Mandell, R., Jacoby, L. B. and Berson, E. L. Genetic complementation analysis in fibroblasts from gyrate atrophy (GA) and the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria (HHH).Pediatr. Res. 15 (1981b) 569Google Scholar
- Valle, D., Boison, A. P. and Kaiser-Kupfer, M. I. Complementation analysis of gyrate atrophy of the choroid and retina.Pediatr. Res. 13 (1979) 427Google Scholar
- Weleber, R. G., Wirtz, M. K. and Kennaway, N. G. Gyrate atrophy of the choroid and retina: clinical and biochemical heterogeneity and response to vitamin B6.Birth Defects Original Article Series 18 (1982) 219–230Google Scholar