| 散发性帕金森病Parkin基因突变检测 |
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| 引用本文： | 刘珂,滕继军,王修海. 散发性帕金森病Parkin基因突变检测[J]. 青岛大学医学院学报, 2009, 45(2). DOI: 10.3969/j.issn.1672-4488.2009.02.004 |
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| 作者姓名： | 刘珂 滕继军 王修海 |
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| 作者单位： | 1. 青岛大学医学院生物学教研室,山东,青岛,266021
2. 青岛大学医学院附属医院神经内科 |
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| 基金项目： | 山东省卫生厅科研项目 |
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| 摘 要： | 目的 探讨散发性帕金森病病人Parkin基因的突变情况.方法 应用聚合酶链反应-单链构象多态性技术(PCR-SSCP), 对18例帕金森病病人和20例正常人Parkin基因的第3、4、5、6、7外显子突变情况进行检测分析.结果 4例病人有Parkin基因第3外显子点突变, 1例病人有Parkin基因第4外显子点突变,2例病人有Parkin基因第5外显子点突变.所有病例均未检测到Parkin基因外显子缺失突变.结论 散发性帕金森病病人中存在Parkin基因点突变,Parkin基因点突变可能是散发性帕金森病发病原因之一.
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| 关 键 词： | 帕金森病 Parkin基因 点突变 |
DETECTION OF Parkin GENE MUTATION IN SPORADIC PARKINSON DISEASE |
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| LIU KE,TENG JI-JUN,WANG XIU-HAI. DETECTION OF Parkin GENE MUTATION IN SPORADIC PARKINSON DISEASE[J]. Acta Academiae Medicinae Qingdao Universitatis, 2009, 45(2). DOI: 10.3969/j.issn.1672-4488.2009.02.004 |
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| Authors: | LIU KE TENG JI-JUN WANG XIU-HAI |
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| Affiliation: | LIU KE,TENG JI-JUN,WANG XIU-HAI(Department of Biology,Qingdao University Medical College,Qingdao 266021,China) |
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| Abstract: | Objective To explore the mutations of Parkin gene in patients with sporadic Parkinson disease.MethodsThe mutations of the exons 3,4,5,6,7 of Parkin gene in 18 patients with Parkinson disease and 20 normal controls were detected by polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP).Results The point mutation of exon 3,4,5 of Parkin gene were detected in 4 patients,1 patient and 2 patients,respectively.No deletion mutation of Parkin gene exon was detected in all patients.Conclusion Th... |
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| Keywords: | Parkinson disease Parkin gene Point Mutation |
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