葡萄糖脑苷脂酶基因多态性与帕金森病的相关性

Correlation of glucocerebrosidase genetic polymorphisms and Parkinson′s disease

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 study the N370S,V394L and L444P mutation sites polymorphisms of glucocerebrosidase（GBA） gene in Parkinson′s disease（PD） in Guizhou province of China and explore the relationship between GBA gene and PD.Methods The genomic DNA of 50 PD patients and 50 normal controls was extracted,exons 8-11 of GBA amplified,and exon 9 and exon 10 of GBA gene were amplified.The frist PCR purified products were defied as template,and then the second purified PCR products were sequenced.Results The nucleotide sequences of exon 9 and exon 10 of GBA gene in PD patients and normal controls were the same,and there was no mutation.Conclusion There are no N370S,V394L and L444P mutation sites polymorphisms of GBA gene in Guizhou province of China,suggesting that there is no correlation between GBA gene and PD.