Association of Nurr1 gene mutations with Parkinson's disease in the Han population living in the Hubei province of China

作     者：Xiaoliang Lou Weijing Liao 

作者机构：Department of Rehabilitation MedicineZhongnan HospitalWuhan UniversityWuhan 430071Hubei ProvinceChina Department of NeurologyFourth Affiliated HospitalNanchang UniversityNanchang 330003Jiangxi ProvinceChina 

出 版 物：《Neural Regeneration Research》 (中国神经再生研究（英文版）)

年 卷 期：2012年第7卷第23期

页      面：1791-1796页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 09[农学] 071006[理学-神经生物学] 071007[理学-遗传学] 0901[农学-作物学] 090102[农学-作物遗传育种] 

基　　金：supported by the Science and Technology Department of Jiangxi Province,No.20114BAB205076 a Grant from the Jiangxi Provincial Health Department,No.20094008 

主　　题：Nurr1 gene Parkinson’s disease gene mutations gene polymorphism pathogenesis neurode-generative disease neural regeneration 

摘      要：Nurr1 defects could in part underlie Parkinson’s disease pathogenesis,and Nurr1 gene polymorphism has been found in Caucasian patients with Parkinson’s *** this study,heteroduplex technology was applied to compare the DNA sequences of eight exons of Nurr1 among 200 sporadic Parkinson’s disease patients and 200 healthy controls in the Han population in the Hubei province,*** allele amplified from exon 3 of Nurr1 was polymorphic in five Parkinson’s disease patients（2.5%,5/200）,and two individuals had a polymorphic allele amplified from exon 2 （1%,2/200）.The anomalous electrophoresis fragment in exon 3 of Nurr1 gene contained a 709C/A missense mutation,and a polymorphic single nucleotide polymorphism at 388G/A was identified in exon *** with the control group,the Nurr1 gene expression level in the Parkinson’s disease group was decreased,and the Nurr1 gene expression levels in Parkinson’s disease patients carrying the polymorphisms at exons 2 and 3 were significantly *** data indicate that the single nucleotide polymorphism 388G/A in exon 2 and the 709C/A missense mutation in exon 3 of the Nurr1 gene in the Chinese population might affect the pathogenesis of Parkinson’s disease.