[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.


CONCLUSIONS
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.
Yang
Jing-fang
JF
Department of Neurobiology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Li
Jian-yu
JY
Li
Yong-jie
YJ
Zhang
Yan-li
YL
Chen
Biao
B
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002681:China; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
D018832:Molecular Chaperones; C108175:TOR1A protein, human