Exon deletions of parkin gene in patients with parkinson disease

被引:0
作者
Wang Tao
Liang Zhihou
Sun Shenggang
Cao Xuebing
Peng Hai
Liu Hongjin
Tong Etang
机构
[1] Huazhong University of Science and Technology,Department of Neurology, Union Hospital, Tongji Medical College
关键词
Parkinson disease; parkin gene; deletive mutation;
D O I
10.1007/BF02832007
中图分类号
学科分类号
摘要
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.
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页码:262 / 265
页数:3
相关论文
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