| Point Mutation in the Parkin Gene on Patients with Parkinson's Disease |
| |
| 作者姓名： | 王涛 梁直厚 孙圣刚 曹学兵 彭海 曹非 刘红进 童萼塘 |
| |
| 作者单位： | Department of Neurology，Xiehe Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430022，Department of Neurology，Xiehe Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430022，Department of Neurology，Xiehe Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430022，Department of Neurology，Xiehe Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430022，Department of Neurology，Xiehe Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430022，Department of Neurology，Xiehe Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430022，Department of Neurology，Xiehe Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430022，Department of Neurology，Xiehe Hospital，Tongji Medical College，Huazhong University of Science and Technology，Wuhan 430022 |
| |
| 基金项目： | This work was supported by grants from the key program of the special scientific project of Scientific & Technologic Agency of Hubei Province(Serial No.2001AA308B01)and the Hygienic Research Project Hygienic Agency of Hubei province(Serial No.WJ 01529). |
| |
| 摘 要： | Summary;To investigate the distribution of possible novel mutations from parkin gene in variant sub-set of patients with Parkinson’s disease(PD)in China and explore whether parkin gene plays an im-portant role in the pathogenesis of PD,70 patients were divided into early-onset group and late-onsetgroup; 70 healthy subjects were included as controls.Genomic DNA from 70 normal controls andfrom those of PD patients were extracted from peripheral blood leukocytes by using standard proce-dures.Mutations of parkin gene(exon 1—12)in all the subjects were screened by PCR-single strandconformation polymorphism(SSCP),and further sequencing was performed in tue samples with ab-normal SSCP results,in order to confirm the mutation and its location.A new missense mutationGly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 pa-tients were found.All the DNA variants were sourced from the samples of the patients with early-on-set PD.It was concluded that Parkin point mutation a
|
Point Mutation in the Parkin Gene on Patients with Parkinson's Disease |
| |
| WANG Tao LIANG Zhihou SUN Shenggang CAO Xuebing PENG Hai CAO Fei LIU Hongjin TONG E-tang.Point Mutation in the Parkin Gene on Patients with Parkinson''''s Disease[J].Journal of Zuazhong University of Science and Technology: Medical Edition,2003(2). |
| |
| Authors: | WANG Tao LIANG Zhihou SUN Shenggang CAO Xuebing PENG Hai CAO Fei LIU Hongjin TONG E-tang |
| |
| Institution: | WANG Tao LIANG Zhihou SUN Shenggang CAO Xuebing PENG Hai CAO Fei LIU Hongjin TONG E-tang Department of Neurology,Xiehe Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022 |
| |
| Abstract: | To investigate the distribution of possible novel mutations from parkin gene in variant subset of patients with Parkinson's disease (PD) in China and explore whether parkin gene plays an important role in the pathogenesis of PD, 70 patients were divided into early-onset group and late-onset group; 70 healthy subjects were included as controls. Genomic DNA from 70 normal controls and from those of PD patients were extracted from peripheral blood leukocytes by using standard procedures. Mutations of parkin gene (exon 1-12) in all the subjects were screened by PCR-single strand conformation polymorphism (SSCP). and further sequencing was performed in the samples with abnormal SSCP results, in order to confirm the mutation and its location. A new missense mutation Gly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 patients were found. All the DNA variants were sourced from the samples of the patients with early-onset PD. It was concluded that Parkin point mutation also partially contributes to the development of early-onset Parkinson's disease in Chinese. |
| |
| Keywords: | Parkinson's disease parkin gene point mutation |
| 本文献已被 CNKI 等数据库收录！ |
