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Science 9 November 1984:
Vol. 226. no. 4675, pp. 698 - 700
DOI: 10.1126/science.6494904

Articles

Science, Vol 226, Issue 4675, 698-700
Copyright © 1984 by American Association for the Advancement of Science


articles

Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus

V Lindgren, B de Martinville, AL Horwich, LE Rosenberg, and U Francke

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.


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Electroencephalographic Findings in Ornithine Transcarbamylase Deficiency.
P. Brunquell, K. Tezcan, and F. J. DiMario JR (1999)
J Child Neurol 14, 533-536
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Ornithine Transcarbamylase Deficiency in Females: An Often Overlooked Cause of Treatable Encephalopathy.
C. L. Pridmore, J. T.R. Clarke, and S. Blaser (1995)
J Child Neurol 10, 369-374
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