08-12-31  

鲍远程1余元勋2汪鸿浩1吴鹏1蒋怀周1
摘要目的探讨散发性早发性帕金森病患者遗传易感基因突变的形式和分布及易感基因突变在PD发病中的可能作用。方法病例组由23例散发性早发帕金森患者组成，10例对照组。以基因组DNA为模板，扩增Parkin基因的第1、4、6号外显子和LRRK 2基因的第31号外显子。观察PCR产物测序后的突变情况。结果发现样本中存在突变以及单核苷酸多态性（Single Nucleotide Polymorphism，SNP）。在一例患者Parkin基因Exon6上发现735ntT→C，对应的密码子TGT212CGT，翻译的氨基酸C212R，国内罕有报道。另一例患者Parkin基因Exon6上发现突变833ntG→C，导致第244密码子同义突变。结论Parkin基因外显子4、6的突变可能是我国散发性早发PD患者的致病原因之一。
关键词帕金森病基因突变研究
Study on the Parkin and LRRK 2 Sequence Variation in Parkinson's Disease
BAO Yuan?chengYU Yuan?xunWANG Hu?haoWU PengJIANG Huai?zhou
ABSTRACTObjectiveStudy on the mutations of Parkin gene in early?onset Parkinson's disease and the effects of mutations in function. MethodsThe genomic DNA was extracted from 21 patients with early?onset Parkinson's disease. Three exons of Parkin gene exon 1, exon 4, exon 6, and the exon 31 of LRRK 2 gene were amplified. ResultsThere are many point mutations in the exon 4 and exon 6 of Parkin gene in some patients, and single nucleotide polymorphism in normal people. ConclusionThe Point mutation of Parkin gene exon 4 and exon 6 possibly are pathogenetic of early?onset Parkinson's disease. There are rare reports within our country.
KEY WORDSParkinson's diseaseGene mutationResearch