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[TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia].

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.