TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia.
- Author:
Wei LIU
1
;
Bei-sha TANG
;
Gui-fang CAO
;
Tao CHEN
;
Hai-yan LI
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; China; Dystonia; ethnology; genetics; Female; Genes, Recessive; genetics; Humans; Male; Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Analysis, DNA; Tyrosine 3-Monooxygenase; genetics
- From: Chinese Journal of Medical Genetics 2004;21(5):452-454
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSMutation 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.
RESULTSThe PCR-SSCP analysis and DNA direct sequencing following PCR revealed no mutation in all the 14 exons of TH gene.
CONCLUSIONThe 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.
