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A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population |
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| Authors: | L P W J van den Heuvel Bernadette Luiten J A M Smeitink Johanneke F de Rijk-van Andel Keith Hyland Gerry C H Steenbergen-Spanjers R J T Janssen R A Wevers |
| Institution: | (1) Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands e-mail: B. vandeHeuvel@ckslkn.azn.nl, Tel.: +31 24 3617983 or +31 24 3616872, Fax: 31 24 3616428, NL;(2) Department of Neurology, Ignatius Hospital Breda, The Netherlands, NL;(3) Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX 75226, USA, US |
| Abstract: | This report concerns one new mutation in the tyrosine hydroxylase (TH) gene in three patients originating from three unrelated Dutch families with autosomal recessive L-DOPA-responsive dystonia (DRD). In this study, all exons of the TH gene were amplified by the polymerase chain reaction and subjected to analyses by single-strand conformation polymorphism. An aberrant migration pattern was observed for exon 6 of the TH gene in all patients. Direct sequencing of the coding region of exon 6 revealed the presence of one novel missense mutation. An a698g transition resulted in the substitution of the evolutionary conserved arginine 233 by a histidine (R233H). All patients were homozygous for the mutation. This new mutation in the TH gene was confirmed by restriction enzyme analysis with the restriction enzyme HhaI. Thus, a high proportion of defective TH alleles may be R233H in The Netherlands. Received: 25 July 1997 / Accepted: 10 February 1998 |
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