DYT1 MUTATIONS AMONGST EARLY ONSET PRIMARY DYSTONIA PATIENTS IN CHINA

【摘要】 Objective To investigate the frequency of GAG deletion in the DYT1 gene among early onset primary dystonia patients in China.Methods 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).Results The GAG deletion mutation which results in Glu302del in exon 5 of the DYT1 gene was found in 5 patients.The detecting results were consistent between with DHPLC and PCR-RFLP.We did not find any other mutations in the DYT1 gene.Conclusions The GAG deletion in the DYT1 gene is common amongst early onset primary torsion dystonia patients in China.The frequency of DYT1 mutation is not significantly different between European and Asian patients with early onset primary dystonia.更多还原

【Abstract】 Objective To investigate the frequency of GAG deletion in the DYT1 gene among early onset primary dystonia patients in China.Methods 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).Results The GAG deletion mutation which results in Glu302del in exon 5 of the DYT1 gene was found in 5 patients.The detecting results were consistent between with DHPLC and PCR-RFLP.We did not find any other mutations in the DYT1 gene.Conclusions The GAG deletion in the DYT1 gene is common amongst early onset primary torsion dystonia patients in China.The frequency of DYT1 mutation is not significantly different between European and Asian patients with early onset primary dystonia.更多还原