Format

Send to

Choose Destination
See comment in PubMed Commons below

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

[Article in Chinese]

Author information

1
Department of Neurology, Xiangya Hospital, Changsha, Hunan, 410008 P.R.China.

Abstract

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.

PMID:
15476168
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center