Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism
Journal
Movement Disorders
Journal Volume
19
Journal Issue
9
Pages
1065-1069
Date Issued
2004
Author(s)
Abstract
Recently, mutations in DJ-1 (PARK7) were described as a novel cause of early-onset parkinsonism. We analysed the DJ-1 gene in a cohort of patients originating from Taiwan with early-onset Parkinson's disease; 41 subjects were clinically and genetically examined. These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire DJ-1 open-reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of DJ-1 exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. Our results and previous studies suggest that alterations to DJ-1 are not a common cause of early-onset Parkinson's disease and other causes, genetic and/or environmental, remain to be identified. ? 2004 Movement Disorder Society.
Other Subjects
complementary DNA; parkin; adult; article; Chinese; clinical article; cohort analysis; environmental factor; ethnic group; exon; female; gene amplification; gene deletion; gene duplication; gene mutation; gene sequence; genetic analysis; heredity; human; male; onset age; open reading frame; Parkinson disease; parkinsonism; polymerase chain reaction; priority journal; quantitative assay; Taiwan; Adult; Age of Onset; China; Cohort Studies; DNA, Complementary; Electrophoresis, Agar Gel; Exons; Female; Gene Deletion; Humans; Intracellular Signaling Peptides and Proteins; Male; Middle Aged; Oncogene Proteins; Parkinson Disease; Point Mutation; Reverse Transcriptase Polymerase Chain Reaction; Taiwan
Type
journal article