Wirtz M K, Kennaway N G, Weleber R G
J Inherit Metab Dis. 1985;8(2):71-4. doi: 10.1007/BF01801668.
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 from 14C-ornithine into protein in cultured cells in situ compared to non-responsive patients. Complementation analysis of the cells from these seven patients was performed, based on the ratio of incorporation of 14C/3H into protein in fused cells incubated in 14C-ornithine and 3H-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.
对4例对吡哆醇有反应和3例对吡哆醇无反应的脉络膜视网膜回旋性萎缩患者的成纤维细胞进行了检查。与无反应的患者相比，有反应的患者细胞匀浆中鸟氨酸酮酸转氨酶（OKT）活性更高，并且在原位培养细胞中，14C-鸟氨酸的放射性更多地掺入蛋白质中。基于在14C-鸟氨酸和3H-亮氨酸中孵育的融合细胞中14C/3H掺入蛋白质的比例，对这7例患者的细胞进行了互补分析。这些杂交中缺乏阳性互补表明，对吡哆醇有反应和无反应的脉络膜视网膜回旋性萎缩患者代表了编码OKT的同一基因座的不同等位基因突变。
