https://scholars.lib.ntu.edu.tw/handle/123456789/463607
標題: | Genetic analysis of PODXL gene in patients with familial and young-onset Parkinson's disease in a Taiwanese population | 作者: | Chen S.-J. RUEY-MEEI WU Ho C.-H. Cheng J. Lin H.-Y. CHIN-HSIEN LIN |
公開日期: | 2019 | 卷: | 84 | 起(迄)頁: | 235 e.9-235 e.10 | 來源出版物: | Neurobiology of Aging | 摘要: | Mutations in the podocalyxin-like gene (PODXL) have been recently identified in a consanguineous Indian family with juvenile-onset Parkinson's disease (PD) and 3 unrelated patients with PD. However, the pathogenicity of PODXL mutations in the disease and their role in other PD populations remain unclear. The aim of this study was to investigate the PODXL mutations in a Taiwanese cohort with familial and young-onset PD. Among 531 participants, including 161 probands from PD pedigrees without known PD-causative gene mutations and 370 patients with early-onset PD (age of onset <50 years), all exons and exon-intron boundary junctions of PODXL were analyzed by Sanger sequencing. We did not find any pathogenic coding variants or previously reported mutations, indicating that PODXL mutations may not play a role in familial or early-onset PD in this Taiwanese population. ? 2019 Elsevier Inc. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/463607 | ISSN: | 0197-4580 | DOI: | 10.1016/j.neurobiolaging.2019.08.027 | SDG/關鍵字: | adult; Article; cohort analysis; exon; familial disease; gene; gene mutation; gene sequence; genetic analysis; genetic code; genetic variability; human; intron; major clinical study; molecular pathology; onset age; Parkinson disease; pedigree; PODXL gene; population genetics; population research; priority journal; Sanger sequencing; Taiwanese; genetics; onset age; Parkinson disease; Taiwan; podocalyxin; sialoglycoprotein; Age of Onset; Humans; Parkinson Disease; Sialoglycoproteins; Taiwan |
顯示於: | 醫學系 |
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