Exon Deletions of Parkin Gene in Patients with Parkinson Disease  

作　　者：王涛 梁直厚 孙圣刚 曹学兵 彭海 刘红进 童萼塘 

机构地区：[1]Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China

出　　处：《Journal of Huazhong University of Science and Technology(Medical Sciences)》2004年第3期262-265,共4页华中科技大学学报（医学英德文版）

基　　金：ThisprojectwassupportedbygrantsfromthekeyprogramofthespecialscientificprojectofScientific&TechnologicAgencyofHubeiprovince(No.2001AA308B01)andthehygienicresearchprojectofHygienicAgencyofHubeiprovince(No.WJ01529).

摘　　要：Summary: Mutations in the parkin gene have recently been identified in familial and isolated patients with early-onset Parkinson disease (PD) and that subregions between exon 2 and 4 of the parkin gene are hot spots of deletive mutations. To study the distribution of deletions in the parkin gene among variant subset patients with PD in China, and to explore the role of parkin gene in the pathogenesis of PD, 63 patients were divided into early onset and later onset groups. Exons 1-12 were amplified by PCR, templated by the genomic DNA of patients, and then the deletion distribution detected by agarose electrophoresis. Four patients were found to be carrier of exon deletions in 63 patients with PD. The location of the deletion was on exon 2 (1 case), exon 3 (2 cases) and exon 4 (1 case). All patients were belong to the group of early onset PD. The results showed that parkin gene deletion on exon 2, exon 3 and exon 4 found in Chinese population contributes partly to early onset PD.Summary: Mutations in the parkin gene have recently been identified in familial and isolated patients with early-onset Parkinson disease (PD) and that subregions between exon 2 and 4 of the parkin gene are hot spots of deletive mutations. To study the distribution of deletions in the parkin gene among variant subset patients with PD in China, and to explore the role of parkin gene in the pathogenesis of PD, 63 patients were divided into early onset and later onset groups. Exons 1-12 were amplified by PCR, templated by the genomic DNA of patients, and then the deletion distribution detected by agarose electrophoresis. Four patients were found to be carrier of exon deletions in 63 patients with PD. The location of the deletion was on exon 2 (1 case), exon 3 (2 cases) and exon 4 (1 case). All patients were belong to the group of early onset PD. The results showed that parkin gene deletion on exon 2, exon 3 and exon 4 found in Chinese population contributes partly to early onset PD.

关 键 词：Parkinson disease parkin gene deletive mutation 

分 类 号：R742.5[医药卫生—神经病学与精神病学]