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DYT1 MUTATIONS AMONGST EARLY ONSET PRIMARY DYSTONIA PATIENTS IN CHINA

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机构： [1]Department of Neurobiology, Key Laboratory for Neurodegenerative Disease of Ministry of Education, Xuanwu Hospital of Capital Medical University, Beijing 100053 [2]Department of Functional Neurosurgery, Key Laboratory for Neurodegenerative Disease of Ministry of Education, Xuanwu Hospital of Capital Medical University, Beijing 100053

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关键词： primary torsion dystonia DYT1 gene denaturing high-performance liquid chromatography

摘要：

Objective To investigate the frequency of GAG deletion in the DYTI gene among early onset primary dystonia patients in China. Mothods Thirteen patients with early onset primary torsion dystonia were screened for mutation in exon 5 of the DYT1 gene using denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing, and the results were confirmed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Resuits The GAG deletion mutation which results in Glu302del in exon 5 of the DYTI gene was found in 5 pa-tients. The detecting results were consistent between with DHPLC and PCR-RFLP. We did not fred any other mutations in the DYT1 gene.Conclusions The GAG deletion in the DYT1 gene is common amongst early onset primary torsion dystonia pa-tients in China. The frequency of DYT1 mutation is not significantly different between European and Asian patients with early onset primary dystonia.

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第一作者机构： [1]Department of Neurobiology, Key Laboratory for Neurodegenerative Disease of Ministry of Education, Xuanwu Hospital of Capital Medical University, Beijing 100053

通讯作者：

通讯机构： [1]Department of Neurobiology, Key Laboratory for Neurodegenerative Disease of Ministry of Education, Xuanwu Hospital of Capital Medical University, Beijing 100053

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