| 早发性帕金森病患者中Parkin, LRRK2基因序列变异研究 |
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| 引用本文： | 余元勋,鲍远程,汪鸿浩,吴鹏,蒋怀周.早发性帕金森病患者中Parkin, LRRK2基因序列变异研究[J].中国优生与遗传杂志,2007,15(11):16-17,20. |
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| 作者姓名： | 余元勋 鲍远程 汪鸿浩 吴鹏 蒋怀周 |
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| 作者单位： | 1. 安徽高等医专省遗传中心,安徽合肥,230061
2. 安徽中医学院附院神经内科 |
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| 摘 要： | 目的观察散发性早发帕金森病(Parkinsons disease,PD)患者遗传易感基因突变的形式和分布,探讨易感基因突变在PD发病中的可能作用。方法病例组由13例散发性早发帕金森患者组成。以基因组DNA为模板,扩增Parkin基因的第1、4、6号外显子和LRRK2基因的第31号外显子。观察PCR产物测序后的突变情况。结果发现样本中存在突变,在正常人中存在单核苷酸多态性(single nucleotide polymorphism,SNP)。结论Parkin基因外显子的突变是我国散发性早发PD患者的致病原因之一。
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| 关 键 词： | 帕金森病 Parkin基因 LRRK2基因 序列变异 |
| 文章编号： | 1006-9534（2007）11-0016-03 |
| 收稿时间： | 2007-08-22 |
| 修稿时间： | 2007-08-22 |
Study of Parkin, LRRK2 gene secuence in PD patients |
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| YU Yuan-xun,Bao Yuan-cheng,JIANG Huai-zhou,WU Peng,WANG Hong-hao.Study of Parkin, LRRK2 gene secuence in PD patients[J].Chinese Journal of Birth Health & Heredity,2007,15(11):16-17,20. |
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| Authors: | YU Yuan-xun Bao Yuan-cheng JIANG Huai-zhou WU Peng WANG Hong-hao |
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| Institution: | 1.Anhui Medical Genetics Center inAHYZ, Hefei 230061, China;2.Auhui Tranditional Chinese Medicine College |
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| Abstract: | Objective:Study on the mutation of Parkin gene in early-onset Parkinson's disease and analyze the effects of mutations on its function.Methods:The genomic DNA was extracted from 13 patients with early-onset Parkinson's disease.Three exons of Parkin gene:exon 1,exon4,exon6,and the exon 31 of LRRK2 gene were amplified.All of these were hot-points of gene mutations related to Parkinson's disease.Results:There were some exons of Parkin gene with deletions in the PD patients,and we found single nucleotide polymorphism in normal people.Conclusion:The mutations of Parkin gene and LRRK2 gene are pathogenesis of early-onset Parkinson's disease. |
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| Keywords: | Parkinson's disease Mutation of sequence Parkin gene LRRK2 gene |
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