Objective to study the role of cell apoptosis in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3).
目的研究细胞凋亡在脊髓小脑性共济失调3型(SCA3)分子发病机制中的作用。
Objective To analyze the role and location of ubiquitin-dependent proteolysis pathway (UPP) in PC12 cells transfected by plasmids with spinocerebellar ataxia type 3 (SCA3) gene.
目的分析泛素依赖的蛋白水解通路(UPP)在转染了脊髓小脑性共济失调3型(SCA3)基因的PC 12细胞中的定位及作用。
Methods The length of genetic segment of SCA1, SCA2 and SCA3 in 92 patients with ataxia of unknown origin were detected by polymerase chain reaction (PCR) and agarose gel electrophoresis.
方法应用PCR方法和琼脂糖凝胶电泳对92例不明原因共济失调先证患者测定其SCA1、SCA2和SCA3基因片段长度。
Conclusion the incidence of SCA1, SCA2 and SCA3 is 22.8% in patients with ataxia of unknown origin, and SCA3 is main type. Genetic analysis is the most effective means for the diagnosis of SCA.
结论通过这次研究，发现SCA1、SCA2、SCA3型在不明原因的共济失调中的发生率为22.8%，其中又以SCA3型为主，确定诊断的最直接最有效的手段是基因诊断。
Conclusion the incidence of SCA1, SCA2 and SCA3 is 22.8% in patients with ataxia of unknown origin, and SCA3 is main type. Genetic analysis is the most effective means for the diagnosis of SCA.
结论通过这次研究，发现SCA1、SCA2、SCA3型在不明原因的共济失调中的发生率为22.8%，其中又以SCA3型为主，确定诊断的最直接最有效的手段是基因诊断。
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