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视网膜和脉络膜的回旋状萎缩。两种产前诊断方法。

Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.

作者信息

O'Donnell J J, Sipilä I, Vannas A, Sandman R, Vannas-Sulonen K

出版信息

Int Ophthalmol. 1981 Aug;4(1-2):33-6. doi: 10.1007/BF00139578.

DOI:10.1007/BF00139578
PMID:7298261
Abstract

We report two methods for prenatal diagnosis of gyrate atrophy of the retina and choroid caused by an inborn error of ornithine aminotransferase activity. A high pressure liquid chromatography assay measures ornithine aminotransferase accurately and directly in cultured amniotic fluid cells. The differential incorporation of 14C-ornithine and 3H-leucine into cell protein measures OAT directly but rapidly and simply.

摘要

我们报告了两种用于产前诊断由鸟氨酸转氨酶活性先天性缺陷引起的视网膜和脉络膜回旋性萎缩的方法。一种高压液相色谱测定法可准确、直接地测量培养的羊水细胞中的鸟氨酸转氨酶。14C-鸟氨酸和3H-亮氨酸在细胞蛋白中的差异掺入可直接但快速且简单地测量鸟氨酸转氨酶。

相似文献

1
Gyrate atrophy of the retina and choroid. Two methods for prenatal diagnosis.视网膜和脉络膜的回旋状萎缩。两种产前诊断方法。
Int Ophthalmol. 1981 Aug;4(1-2):33-6. doi: 10.1007/BF00139578.
2
Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.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
Proc Natl Acad Sci U S A. 1977 Nov;74(11):5159-61. doi: 10.1073/pnas.74.11.5159.
3
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.鸟氨酸酮酸转氨酶缺乏与视网膜脉络膜回旋性萎缩
Am J Hum Genet. 1978 Mar;30(2):174-9.
4
L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy.视网膜色素变性纯合子和杂合子发根中L-鸟氨酸酮酸转氨酶测定
Clin Chim Acta. 1981 Jun 18;113(2):213-6. doi: 10.1016/0009-8981(81)90156-x.
5
Vitamin B6 in management of gyrate atrophy of choroid and retina.维生素B6在脉络膜和视网膜回旋状萎缩治疗中的应用
Lancet. 1978 Dec 2;2(8101):1213. doi: 10.1016/s0140-6736(78)92211-0.
6
Gyrate atrophy of the choroid and retina. Approaches to therapy.脉络膜和视网膜的回旋状萎缩。治疗方法。
Int Ophthalmol. 1981 Aug;4(1-2):23-32. doi: 10.1007/BF00139577.
7
L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina.一名患有高鸟氨酸血症及脉络膜和视网膜回旋状萎缩的患者的培养成纤维细胞中L-鸟氨酸-酮酸转氨酶缺乏症
Clin Chim Acta. 1977 Sep 1;79(2):371-7. doi: 10.1016/0009-8981(77)90431-4.
8
Gyrate atrophy of the choroid and retina with reticular pigmentary dystrophy and ornithine-ketoacid-transaminase deficiency.伴有网状色素性营养不良和鸟氨酸 - 酮酸转氨酶缺乏症的脉络膜和视网膜回旋状萎缩
Int Ophthalmol. 1978 Sep;1(1):49-56. doi: 10.1007/BF00133277.
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Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: in vivo and in vitro response to vitamin B6.与脉络膜和视网膜回旋状萎缩相关的高鸟氨酸血症：对维生素B6的体内和体外反应
J Inherit Metab Dis. 1981;4(2):61-2. doi: 10.1007/BF02263591.
10
Hyperornithinemia and gyrate atrophy of the choroid and retina.高鸟氨酸血症与脉络膜和视网膜的回旋状萎缩
Ophthalmology. 1978 Sep;85(9):918-28. doi: 10.1016/s0161-6420(78)35598-6.

本文引用的文献

1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture.人皮肤和羊水细胞培养中的鸟氨酸-酮酸转氨酶活性
Clin Chim Acta. 1970 Jan;27(1):73-5. doi: 10.1016/0009-8981(70)90376-1.
3
Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts.脉络膜和视网膜的回旋状萎缩：培养的皮肤成纤维细胞中鸟氨酸酮酸氨基转移酶活性不足
N Engl J Med. 1977 Nov 24;297(21):1180. doi: 10.1056/nejm197711242972116.
4
L-Ornithine-ketoacid-transaminase deficiency in cultured fibroblasts of a patient with hyperornithinaemia and gyrate atrophy of the choroid and retina.一名患有高鸟氨酸血症及脉络膜和视网膜回旋状萎缩的患者的培养成纤维细胞中L-鸟氨酸-酮酸转氨酶缺乏症
Clin Chim Acta. 1977 Sep 1;79(2):371-7. doi: 10.1016/0009-8981(77)90431-4.
5
Ocular and biochemical abnormalities in gyrate atrophy of the choroid and retina.脉络膜视网膜回旋性萎缩的眼部及生化异常
Ophthalmology. 1978 Oct;85(10):1018-27. doi: 10.1016/s0161-6420(78)35588-3.
6
Hyperornithinemia and gyrate atrophy of the choroid and retina.高鸟氨酸血症与脉络膜和视网膜的回旋状萎缩
Ophthalmology. 1978 Sep;85(9):918-28. doi: 10.1016/s0161-6420(78)35598-6.
7
Assay of ornithine aminotransferase by high-performance liquid chromatography.高效液相色谱法测定鸟氨酸转氨酶
Anal Biochem. 1978 Oct 1;90(1):41-6. doi: 10.1016/0003-2697(78)90006-4.
8
Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.鸟氨酸酮酸转氨酶缺乏与视网膜脉络膜回旋性萎缩
Am J Hum Genet. 1978 Mar;30(2):174-9.
9
Gyrate atrophy of the retina: inborn error of L-ornithin:2-oxoacid aminotransferase.视网膜回旋状萎缩：L-鸟氨酸：2-氧代酸氨基转移酶的先天性缺陷。
Science. 1978 Apr 14;200(4338):200-1. doi: 10.1126/science.635581.
10
A specific enzyme defect in gyrate atrophy.视网膜色素变性的一种特定酶缺陷。
Am J Ophthalmol. 1978 Feb;85(2):200-4. doi: 10.1016/s0002-9394(14)75948-3.