Abstract
It has been suggested that a form of inherited dystonia responsive to levodopa might be due to an abnormality of tyrosine hydroxylase gene. This hypothesis has been tested using a cDNA tyrosine hydroxylase gene probe in three families with this disorder. No evidence for genetic linkage between the disease and tyrosine hydroxylase loci was found; it is possible that the disorder results from a post-transcriptional defect confined to the brain.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Craig S. P., Buckle V. J., Lamouroux A., Mallet J., Craig I. Localization of the human tyrosine hydroxylase gene to 11p15: gene duplication and evolution of metabolic pathways. Cytogenet Cell Genet. 1986;42(1-2):29–32. doi: 10.1159/000132246. [DOI] [PubMed] [Google Scholar]
- Egeland J. A., Gerhard D. S., Pauls D. L., Sussex J. N., Kidd K. K., Allen C. R., Hostetter A. M., Housman D. E. Bipolar affective disorders linked to DNA markers on chromosome 11. 1987 Feb 26-Mar 4Nature. 325(6107):783–787. doi: 10.1038/325783a0. [DOI] [PubMed] [Google Scholar]
- Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
- Grima B., Lamouroux A., Boni C., Julien J. F., Javoy-Agid F., Mallet J. A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics. Nature. 1987 Apr 16;326(6114):707–711. doi: 10.1038/326707a0. [DOI] [PubMed] [Google Scholar]
- Moss P. A., Davies K. E., Boni C., Mallet J., Reeders S. T. Linkage of tyrosine hydroxylase to four other markers on the short arm of chromosome 11. Nucleic Acids Res. 1986 Dec 22;14(24):9927–9932. doi: 10.1093/nar/14.24.9927. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974 Sep;26(5):588–597. [PMC free article] [PubMed] [Google Scholar]
- Tanaka K., Yoneda M., Nakajima T., Miyatake T., Owada M. Dihydrobiopterin synthesis defect: an adult with diurnal fluctuation of symptoms. Neurology. 1987 Mar;37(3):519–522. doi: 10.1212/wnl.37.3.519. [DOI] [PubMed] [Google Scholar]