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目的 观察汉族帕金森病 (PD)患者中 parkin基因多态性位点等位基因频率 ,探讨 parkin基因多态性位点与PD发病的关系。方法 PD患者组及对照组各 70例。以提取基因组DNA为模板 ,扩增parkin基因的外显子 4、外显子 10 ,然后行酶切与聚丙烯酰胺电泳 ,观察S/N16 7、R/W 36 6、V/L380多态性位点等位基因频率。结果 PD患者组与对照组间三个多态性位点等位基因频率均无明显差异。结论 parkin基因S/N16 7、R/W 36 6、V/L380多态性位点与汉族PD患者的发病无明显相关性。
Objective To investigate the allele frequency of parkin polymorphism in patients with Parkinson disease (PD) in Han nationality and to explore the relationship between the polymorphism of parkin gene and the pathogenesis of PD. Methods PD patients and control group of 70 cases. The genomic DNA was extracted as a template to amplify the exon 4 and exon 10 of parkin gene and then digested with polyacrylamide gel electrophoresis to observe the polymorphisms of S / N16 7, R / W 36 6 and V / L380 Site allele frequency. Results There was no significant difference in allele frequencies among the three polymorphic loci in PD patients and controls. Conclusion There is no significant correlation between the polymorphisms of parkin gene S / N167, R / W 366 and V / L380 and the incidence of PD in Han nationality.