帕金森病Parkin基因多态性的关联研究及早发性和家族性帕金森综合征患者Parkin基因的突变筛查
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摘要
目的：了解四川地区散发性帕金森病Parkin基因多态性与帕金森病的相关性；了解四川地区早发性散发性帕金森病患者Parkin基因缺失和突变情况；了解四川地区家族性帕金森综合征患者Parkin基因缺失和突变情况。
材料与方法：1．采用聚合酶链反应(PCR)、限制性片段长度多态性(RFLP)、高效变性液相色谱(DHPLC)等技术，对四川地区汉族人群116例PD患者Parkin基因Ser167Asn多态位点，198例PD患者Parkin基因-258T／G及IVS3-20T→C多态性位点进行研究，旨在了解有关已知多态性的频率分布，并通过比较各多态性在PD患者和正常对照人群中的频率分布，探讨这些基因多态性与PD的可能关系。2．采用聚合酶链反应、变性高效液相色谱(DHPLC)及DNA测序等技术，对四川地区汉族人群中早发性散发性帕金森病及家族性帕金森综合征患者Parkin基因进行突变筛查，旨在发现Parkin基因新的突变，以期更加深入地了解PD发生的分子机
Objective The aims of the study were to determine: whether there were any associations between the Serl67Asn polymorphism, the -258T / G polymorphism of the promoter and the IVS3-20T□C polymorphism in Parkin gene and Parkinson's disease from a Han population in Sichuan province, whether there were homozygous deletions or point mutations in the Parkin gene in early-onset patients with PD and family PD patients from Sichuan province.
Materials and method Polymerase chain reaction(PCR), denaturing high performance liquid chromatography(dHPLC)and sequence analysis were used to determine the genotype of each subject. We analysed the known common Ser167Asn polymorphism in 116 patients, the -258T/G polymorphism and IVS3-20T□C polymorphism in 198 patients with sporadic PD and controls, matched for age and gender. Parkin gene mutations were detected by using
材料与方法：1．采用聚合酶链反应(PCR)、限制性片段长度多态性(RFLP)、高效变性液相色谱(DHPLC)等技术，对四川地区汉族人群116例PD患者Parkin基因Ser167Asn多态位点，198例PD患者Parkin基因-258T／G及IVS3-20T→C多态性位点进行研究，旨在了解有关已知多态性的频率分布，并通过比较各多态性在PD患者和正常对照人群中的频率分布，探讨这些基因多态性与PD的可能关系。2．采用聚合酶链反应、变性高效液相色谱(DHPLC)及DNA测序等技术，对四川地区汉族人群中早发性散发性帕金森病及家族性帕金森综合征患者Parkin基因进行突变筛查，旨在发现Parkin基因新的突变，以期更加深入地了解PD发生的分子机
Objective The aims of the study were to determine: whether there were any associations between the Serl67Asn polymorphism, the -258T / G polymorphism of the promoter and the IVS3-20T□C polymorphism in Parkin gene and Parkinson's disease from a Han population in Sichuan province, whether there were homozygous deletions or point mutations in the Parkin gene in early-onset patients with PD and family PD patients from Sichuan province.
Materials and method Polymerase chain reaction(PCR), denaturing high performance liquid chromatography(dHPLC)and sequence analysis were used to determine the genotype of each subject. We analysed the known common Ser167Asn polymorphism in 116 patients, the -258T/G polymorphism and IVS3-20T□C polymorphism in 198 patients with sporadic PD and controls, matched for age and gender. Parkin gene mutations were detected by using
引文
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