脉络膜和视网膜的回旋状萎缩：转化淋巴细胞中鸟氨酸转氨酶缺乏
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
作者信息
Valle D, Kaiser-Kupfer M I, Del Valle L A
出版信息
Proc Natl Acad Sci U S A. 1977 Nov;74(11):5159-61. doi: 10.1073/pnas.74.11.5159.
Abstract
Gyrate atrophy of the choroid and retina is an inherited form of chorioretinal degeneration associated with hyperornithinemia. We measured the activity of ornithine aminotransferase (L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) in phytohemagglutinin-stimulated lymphocytes of a patient with gyrate atrophy and her daughter. The patient's cells had no detectable ornithine aminotransferase activity, and the activity in the heterozygote's cells was 44% of normal values. Measurements of [3H]thymidine incorporation and other transformation-affected enzymes verified that the patient's cells were transformed. These results demonstrate an enzyme deficiency in gyrate atrophy.
摘要
视网膜脉络膜回旋性萎缩是一种与高鸟氨酸血症相关的遗传性脉络膜视网膜变性。我们检测了一名患有视网膜脉络膜回旋性萎缩的患者及其女儿经植物血凝素刺激的淋巴细胞中鸟氨酸转氨酶（L-鸟氨酸：2-氧代酸转氨酶，EC 2.6.1.13）的活性。患者的细胞未检测到鸟氨酸转氨酶活性，杂合子细胞中的活性为正常值的44%。对[3H]胸腺嘧啶核苷掺入量及其他受转化影响的酶的检测证实患者的细胞已被转化。这些结果表明视网膜脉络膜回旋性萎缩存在酶缺乏。
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