https://scholars.lib.ntu.edu.tw/handle/123456789/198199
標題: | Analysis of Parkin Co-Regulated Gene in a Taiwanese-Ethnic Chinese Cohort with Early-Onset Parkinson's Disease | 作者: | WU, RUEY-MEEI | 關鍵字: | PACRG;Genetics;Early-onset Parkinson's disease;Mutation detection | 公開日期: | 2009 | 卷: | v.15 | 期: | n.6 | 起(迄)頁: | 417-421 | 來源出版物: | PARKINSONISM & RELATED DISORDERS | 摘要: | PArkin Co-Regulated Gene (PACRG) is a novel gene which is transcriptionally co-regulated with the parkin gene (PRKN) by a shared bi- directional promoter. To determine whether mutations in PACRG are associated with early-onset Parkinson 's disease (EO-PD), we performed sequence and dosage analysis of 76 EO-PD patients from a Taiwanese-Ethnic Chinese cohort. This analysis identified two novel nucleotide variants in the non-coding region of PACRG. One patient had an IVS2+247851T>C heterozygous change and two patients had an IVS4+78A>G heterozygous alteration. Neither of these variants was present in the 91 controls tested. A third intronic polymorphism (IVS1+85744insC) was present in cases and controls at an equivalent frequency (approximately 0.25). To facilitate gene dosage analysis, we identified cell lines with a heterozygous deletion or duplication of the entire PACRG locus. Three patients with heterozygous dosage alterations were identified, including two patients with an exon 2 duplication and one patient with an exon 3 deletion of PACRG. No dosage alterations were observed in the 91 controls analyzed (chi(2)=3.66, P=0.056). Our results suggest that point mutations in PACRG are not a common cause of EO-PD but haploinsufficiency for PACRG may be associated with disease. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/186067 |
顯示於: | 醫學系 |
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