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目的研究贵州人群帕金森病(PD)患者的葡萄糖脑苷脂酶(GBA)基因N370S、V394L和L444P突变位点多态性,探讨GBA基因突变与PD的相关性。方法选取50例PD患者和50例正常对照组的基因组DNA,通过PCR扩增GBA基因的外显子8-11 DNA片段,再以纯化的PCR产物作模板,通过PCR分别扩增GBA基因外显子9和外显子10 DNA片段,纯化后测序。结果PD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。结论在中国贵州人群中,GBA基因N370S、V394L和L444P突变位点无多态性,提示GBA基因N370S、V394L和L444P突变与中国贵州人群的PD不具有相关性。
Objective To investigate polymorphisms of N370S, V394L and L444P polymorphisms of GBA gene in patients with Parkinson’s disease (PD) in Guizhou and to explore the association between GBA gene mutations and PD. Methods The genomic DNA of 50 patients with PD and 50 normal controls were selected. The exon 8-11 DNA fragment of GBA gene was amplified by PCR. The purified PCR product was used as a template to amplify the GBA gene 9 and exon 10 DNA fragments were purified and sequenced. Results The nucleotide sequence of exon 9 and exon 10 of GBA gene in PD patients and normal control group were identical, and no mutation was found. Conclusion There is no polymorphism in GBA gene N370S, V394L and L444P in Guizhou population in China, which suggests that there is no correlation between GBA gene N370S, V394L and L444P mutations and PD in Guizhou population in China.