Related Experiment Video
Updated: Aug 21, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
[TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia]
Wei Liu1, Bei-sha Tang, Gui-fang Cao
1Department of Neurology, Xiangya Hospital, Changsha, Hunan, 410008 P.R.China.
Objective:
To explore the mutation of tyrosine hydroxylase(TH) gene in Chinese patients with autosomal recessive(AR) dopa-responsive dystonia(DRD) and to lay a solid basis for gene diagnosis of AR-DRD in China.
Methods:
Mutation analysis of TH gene was performed in 5 probands with AR-DRD and 2 sporadic patients with DRD by use of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combining DNA direct sequencing.
Results:
The PCR-SSCP analysis and DNA direct sequencing following PCR revealed no mutation in all the 14 exons of TH gene.
Conclusion:
The mutation rate of TH gene in Chinese patients with AR-DRD is low, hence suggesting the genetic heterogeneity and a new locus for AR-DRD.
More Related Videos
Related Concept Videos
Huntington Disease l: Introduction
Genetic Lingo
Sex-linked Disorders
Alterations in Muscle Tone lll
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Alterations in Muscle Tone ll

