HUMAN ORNITHINE TRANSCARBAMYLASE LOCUS MAPPED TO BAND XP21.1 NEAR THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS
HUMAN ORNITHINE TRANSCARBAMYLASE LOCUS MAPPED TO BAND XP21.1 NEAR THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS
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DOI：
10.1126/science.6494904
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发表时间：
1984-01-01
期刊：
影响因子：
56.9
通讯作者：
FRANCKE, U
中科院分区：
文献类型：
--
作者：
LINDGREN, V;DEMARTINVILLE, B;FRANCKE, U
通过原位杂交实验，以与人鸟氨酸转氨甲酰酶基因互补的DNA作为探针，将线粒体酶鸟氨酸转氨甲酰酶基因定位到X染色体的短臂。使用一系列具有 X 染色体异常的细胞系来定位基因以带 Xp21.1。由于该基因位于杜氏肌营养不良症基因座附近，因此鸟氨酸转氨甲酰酶探针可用于杜氏肌营养不良症以及鸟氨酸转氨甲酰酶缺乏症的携带者检测和产前诊断。
The gene for the mitochondrial enzyme ornithine transcarbamylase was mapped to the short arm of the X chromosome by in situ hybridization experiments, with DNA complementary to the human ornithine transcarbamylase gene used as a probe. A series of cell lines with X chromosome abnormalities was used to localize the gene to band Xp21.1. Because the gene maps near the Duchenne muscular dystrophy locus, the ornithine transcarbamylase probe may be useful in carrier detection and prenatal diagnosis of Duchenne muscular dystrophy as well as of ornithine transcarbamylase deficiency.