https://scholars.lib.ntu.edu.tw/handle/123456789/197935
標題: | 行政院國家科學委員會專題研究計畫期中進度報告:Parkin 基因多型性與巴金森氏病致病感受性的關聯性、以及DJ-1基因變異在巴金森氏病扮演之角色(1/2) | 作者: | �d��� | 關鍵字: | PARK7;Parkinson’s disease;genetics;Taiwanese | 公開日期: | 2005 | 出版社: | 臺北市:國立臺灣大學醫學院神經科 | 摘要: | Recently, mutations in DJ-1 (PARK7) were described as a novel cause of earlyonset parkinsonism. We have performed a comprehensive analysis of the DJ-1 gene in a cohort of early-onset patients with Parkinson’s disease, originating from Taiwan; 41 subjects were clinically and genetically examined. These patients have previously been evaluated for the presence of parkin mutations (PARK2) and found to be negative. The entire DJ-1 open reading frame was amplified from cDNA and sequenced to identify coding variants. In addition, we developed quantitative PCR assays to examine the genomic copy number of DJ-1 exons. No sequence alterations or exon deletion/duplications were detected. We conclude that in ethnic Chinese, Taiwanese patients alterations to DJ-1 are not a common cause of disease. Given the low frequency of parkin mutations in this early-onset cohort, our findings suggest other causes of parkinsonism, genetic and/or environmental, remain to be identified. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/26098 | 其他識別: | 932314B002241 | Rights: | 國立臺灣大學醫學院神經科 |
顯示於: | 醫學系 |
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932314B002241.pdf | 80.5 kB | Adobe PDF | 檢視/開啟 |
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