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目的探讨α2-巨球蛋白基因(α2-macroglobulin gene,A2M)第24外显子1000G/A及第18外显子5′端剪接点5个碱基插入/缺失(insertion/deletion,I/D)多态与中国北方帕金森病(Parkinson’s disease,PD)和特发性震颤(essential tremor,ET)的关联。方法应用聚合酶链反应-限制性片段长度多态性方法,对87例PD、73例ET和100名健康对照者A2MG/A和I/D两个位点的基因型和等位基因分布频率进行检测。结果(1)A2M基因G/A位点基因型和等位基因分布,在PD与ET、对照组间差异有统计学意义(P<0.05),PD组的G等位基因和GA基因型明显高于ET、对照组(P<0.05);而ET与对照组间相比,差异无统计学意义(P>0·05)。(2)A2M基因I/D位点基因型和等位基因分布,在PD、ET、对照组间差异无统计学意义(P>0.05)。结论(1)G/A位点多态与PD的发病有关联,G/A位点多态与ET无关。(2)I/D位点多态与中国北方PD、ET无关。
Objective To investigate the expression of 5 base insertions / deletions (I / D) in exon 24 of exon 24 of α2-macroglobulin gene (A2M) ) Polymorphisms and Parkinson’s disease (PD) and essential tremor (ET) in northern China. Methods The genotype and allele frequencies of A2MG / A and I / D in 87 patients with PD, 73 ET patients and 100 healthy controls were analyzed by polymerase chain reaction-restriction fragment length polymorphism Test. Results (1) The genotypes and alleles of G / A locus in A2M gene were significantly different between PD and ET, control group (P <0.05). The G allele and GA genotype in PD group were significantly (P <0.05). There was no significant difference between ET and control group (P> 0.05). (2) There was no significant difference in genotype and allele distribution of A2M gene between PD, ET and control group (P> 0.05). Conclusion (1) G / A polymorphism is associated with the pathogenesis of PD, and G / A polymorphism is not related with ET. (2) The polymorphism of I / D locus has nothing to do with PD and ET in northern China.