【摘要】 目的研究中国山东人群帕金森病患者的葡萄糖脑苷脂酶(Glucocerebrosidase,GBA)基因N370S、V394L和L444P突变位点多态性,探讨GBA基因突变与帕金森病的相关性。方法应用PCR产物直接DNA测序法对60例帕金森病患者及60例正常对照组的9、10号外显子进行检测,然后进行测序对比分析。结果测序结果显示帕金森病患者和正常对照组的GBA基因外显子9和外显子10核苷酸序列完全一致,未发现突变点。结论该研究不支持GBA基因N370S、V394L和L444P突变位点是中国山东人群帕金森病的危险因素。更多还原

【Abstract】 Objective To study the polymorphisms of Glucocerebrosidase(GBA)gene mutation sites(N370S,V394L and L444P)in patients with Parkinson’s disease in Shandong province of China,and to explore the relationship between GBA gene and Parkinson’s disease(PD).Methods Exon 9 and exon 10 of GBA gene were amplified the in 60 PD patients and 60 normal controls by polymerase chain reaction(PCR).PCR products were analyzed by direct DNA sequencing.BLAST was used for sequences analysis.Results The sequence results demonstrated that the nucleotide sequences of exon 9 and exon 10 of GBA gene in the patients of Parkinson’s disease and normal controls were the same,with no mutation found.Conclusion The GBA gene mutation sites(N370S,V394L and L444P)may not be risk factors for PD in Chinese Shandong population.更多还原