Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus
- 9 November 1984
- journal article
- research article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 226 (4675) , 698-700
- https://doi.org/10.1126/science.6494904
Abstract
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.This publication has 20 references indexed in Scilit:
- Structure and Expression of a Complementary DNA for the Nuclear Coded Precursor of Human Mitochondrial Ornithine TranscarbamylaseScience, 1984
- Random X inactivation resulting in mosaic nullisomy of region Xp21.1→p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous diseaseCytogenetic and Genome Research, 1984
- The Human Gene Map 15 November 1983Clinical Genetics, 1984
- Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.Journal of Medical Genetics, 1983
- The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.Journal of Medical Genetics, 1983
- Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophyNature, 1982
- Human Immunoglobulin Heavy Chain Genes Map to a Region of Translocations in Malignant B LymphocytesScience, 1982
- Localization of single copy DNA sequences on G-banded human chromosomes by in situ hybridizationChromosoma, 1981
- The identification of human chromosomes by quinacrine fluorescence after hybridisation in situHuman Genetics, 1980
- Ancient Linkage Groups and Frozen AccidentsNature, 1973