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目的探讨常染色体隐性遗传性早发型帕金森综合征(autosomal recessive early-onset Parkinson-ism,AR-EP)DJ1基因的突变特点。方法应用聚合酶链反应结合DNA直接序列分析方法,对11个常染色体隐性遗传性早发型帕金森综合征家系先证者的DJ1基因进行突变研究。结果本组AR-EP患者未发现DJ1基因的致病突变,在内含子区发现6个多态,分别为IVS1-15T→C、IVS4+30T→G、IVS4+45G→A、IVS4+46G→A、IVS5+31G→A和g.168_185del,其中3个(IVS1-15T→C、IVS4+45G→A、IVS4+46G→A)为新发现的多态。结论中国人常染色体隐性遗传性早发型帕金森综合征患者DJ1基因突变可能罕见。
Objective To investigate the mutation of DJ1 gene in autosomal recessive early-onset Parkinson-ism (AR-EP). Methods The DJ1 gene of 11 autosomal recessive hereditary early-onset Parkinsonism pedigrees was studied by polymerase chain reaction and DNA direct sequence analysis. Results There was no pathogenic mutation of DJ1 gene in AR-EP patients. Six polymorphisms were found in intron region, including IVS1-15T → C, IVS4 + 30T → G, IVS4 + 45G → A, IVS4 + 46G → A, IVS5 + 31G → A and g.168_185del, of which 3 (IVS1-15T → C, IVS4 + 45G → A, IVS4 + 46G → A) were newly discovered polymorphisms. Conclusion DJ1 gene mutations may be rare in Chinese patients with autosomal recessive hereditary early-onset Parkinson’s disease.