|Title:||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)||Authors:||吳瑞美||Keywords:||PARK7;Parkinson’s disease;genetics;Taiwanese||Issue Date:||2005||Publisher:||臺北市：國立臺灣大學醫學院神經科||Abstract:||
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.
|Appears in Collections:||醫學系|
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