Zhonghua yi xue za zhi · 2007
[Identification of DYT1 mutation in patients with primary torsion dystonia patients in China].
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Yang Jing-fang, Li Jian-yu, Li Yong-jie, Zhang Yan-li, Chen Biao
Аннотация
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.
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.