parkin基因的一个新的点突变

A new point mutation on exon 2 of parkin gene in Parkinson's disease

目的 研究 parkin基因外显子 2～ 10点突变与散发性早发帕金森病发病的关系。方法应用聚合酶链反应 (polymerase chain reaction,PCR)、琼脂糖电泳、单链构象多态性 (single strand confor-mation polymorphism,SSCP)、DNA测序及限制性核酸内切酶酶切方法 ,检测了 6 0例散发性早发帕金森病患者以及 12 0名正常人外周血白细胞 DNA的 parkin基因外显子 2～ 10点突变。结果 发现 1例患者的 parkin基因外显子 2存在纯合突变 (G2 37→C) ,限制性内切酶酶切证实 ,其它外显子未见突变 ,12 0名正常对照也未见突变。结论 parkin基因外显子存在点突变 ,可能与部分散发性早发帕金森病发病有关。

Objective To detect the relationship between point mutations on exon 2 of parkin gene and sporadic early onset Parkinson's disease. Methods The point mutations on exon 2 of parkin gene were detected using polymerase chain reaction(PCR), agarose electrophoresis, single strand conformation polymorphism(SSCP), DNA sequencing and analysis of restrict enzyme in DNA of 60 Parkinson's disease patients with an onset age under 50 and 120 normal controls. Results One homozygous mutation(G 237 →C) on exon 2 was found by sequencing and verified by analysis of restrict enzyme, whereas no mutation was found in normal controls. Conclusion Point mutations on exon 2 of parkin gene are likely to be related to sporadic early onset Parkinson's disease.