[Identification of DYT1 mutation in patients with primary torsion dystonia patients in China].

OBJECTIVE

To evaluate the value of denaturing high-performance liquid chromatography (DHPLC) in detection of mutations in the DYT1 gene in the patients with primary torsion dystonia (PTD) and to explore the distribution of mutation in China.

METHODS

Peripheral blood samples were collected from 13 early PTD patients, 8 males and 5 females, aged 20 +/- 6. PCR was used to amplify the exon 5 of the DYT1 gene. The mutations were identified by DHPLC and DNA sequencing.

RESULTS

A 3 bp (GAG) deletion mutation in the exon 5 of the DYT1 gene resulting in Glu302del was found in 5 patients. The result of DHPLC was consistent with that of PCR-RFLP. There was not any mutation in other sites of the DYT1 gene.

CONCLUSION

DHPLC technique is an effective tool for detecting 3 bp deletion mutation in the DYT1 gene. The GAG (3 bp) deletion in the DYT1 gene may play an important role in causing early-onset and generalized dystonia in China.