A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
作者： Barbara L�decke , Bernd Dworniczak , Klaus Bartholom�
DOI: 10.1007/BF00225091
关键词:
摘要: We have examined the molecular basis of Segawa's syndrome in six families with seven affected children. In one family two siblings this disease carried a point mutation exon 11 tyrosine hydroxylase gene, resulting an amino acid exchange Gln381 to Lys381. These results suggest that change causes form syndrome.
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Richard M. Myers, Tom Maniatis, Leonard S. Lerman, Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods in Enzymology. ,vol. 155, pp. 501- 527 ,(1987) , 10.1016/0076-6879(87)55033-9
Leonard S. Lerman, Karen Silverstein, Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods in Enzymology. ,vol. 155, pp. 482- 501 ,(1987) , 10.1016/0076-6879(87)55032-7
N A Fletcher, I J Holt, A E Harding, T G Nygaard, J Mallet, C D Marsden, Tyrosine hydroxylase and levodopa responsive dystonia. Journal of Neurology, Neurosurgery, and Psychiatry. ,vol. 52, pp. 112- 114 ,(1989) , 10.1136/JNNP.52.1.112
Mihael H. Polymeropoulos, Hong Xiao, Denise S. Rath, Carl R. Merril, Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH) Nucleic Acids Research. ,vol. 19, pp. 3753- 3753 ,(1991) , 10.1093/NAR/19.13.3753
W. Görke, K. Bartholomé, Biochemical and neurophysiological investigations in two forms of Segawa's disease. Neuropediatrics. ,vol. 21, pp. 3- 8 ,(1990) , 10.1055/S-2008-1071448
K. Bartholomé, Deficiency of tyrosine hydroxylase or tryptophan hydroxylase: a possible cause of two hypothetical metabolic diseases. Acta Paediatrica. ,vol. 72, pp. 921- 922 ,(1983) , 10.1111/J.1651-2227.1983.TB09842.X
Brigitte Grima, Annie Lamouroux, Claudette Boni, Jean-François Julien, France Javoy-Agid, Jacques Mallet, A single human gene encoding multiple tyrosine hydroxylases with different predicted functional characteristics Nature. ,vol. 326, pp. 707- 711 ,(1987) , 10.1038/326707A0
Nagatsu Toshiharu, Ichinose Hiroshi, Comparative studies on the structure of human tyrosine hydroxylase with those of the enzyme of various mammals Comparative Biochemistry and Physiology Part C: Comparative Pharmacology. ,vol. 98, pp. 203- 210 ,(1991) , 10.1016/0742-8413(91)90196-Z
Torbjoern G. Nygaard, Kirk C. Wilhelmsen, Neil J. Risch, Deborah L. Brown, Joel M. Trugman, T. Conrad Gilliam, Stanley Fahn, Daniel E. Weeks, Linkage mapping of dopa–responsive dystonia (DRD) to chromosome 14q Nature Genetics. ,vol. 5, pp. 386- 391 ,(1993) , 10.1038/NG1293-386
Janice A. Egeland, Daniela S. Gerhard, David L. Pauls, James N. Sussex, Kenneth K. Kidd, Cleona R. Alien, Abram M. Hostetter, David E. Housman, Bipolar affective disorders linked to DNA markers on chromosome 11. Nature. ,vol. 325, pp. 783- 787 ,(1987) , 10.1038/325783A0