https://scholars.lib.ntu.edu.tw/handle/123456789/354884
標題: | Rapid screening of ATP13A2 variant with highresolution melting analysis | 作者: | Ruey-Meei Wu | 公開日期: | 2010 | 卷: | 25 | 期: | 14 | 起(迄)頁: | 2434-2437 | 來源出版物: | Movement Disorders | 摘要: | Several genetic and environmental factors are involved in the pathogenesis of Parkinson's disease (PD). Recently, a novel variant of ATP13A2 (p.A746T) responsible for PARK9 was reported as a risk factor for PD in the Han-Chinese population. To investigate the role of this variant in Japanese PD patients, we examined 917 Japanese PD patients (871 index cases) and 190 controls by high-resolution melting curve analysis. We detected heterozygous p.A746T variant in a single patient with sporadic PD and a single control subject. These results suggest that ATP13A2 p.A746T variant is unlikely to play a role as a common risk factor or a pathogenic mutation for PD at least in Japanese. Our data on Japanese differ from those reported recently on Han-Chinese. Further studies are needed to confirm conclusions on roles of ATP13A2 variant in Asians or other populations. ? 2010 Movement Disorder Society. |
URI: | http://www.scopus.com/inward/record.url?eid=2-s2.0-77958548191&partnerID=MN8TOARS http://scholars.lib.ntu.edu.tw/handle/123456789/354884 |
DOI: | 10.1002/mds.23106 | SDG/關鍵字: | adult; aged; article; ATP13A2 gene; controlled study; female; gene; gene mutation; genetic risk; genetic screening; genetic variability; genotype; haplotype; heterozygosity; High Resolution Melting Curve Analysis; human; Japanese; major clinical study; male; Parkinson disease; pathogenesis; priority journal; Adolescent; Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group; Cross-Cultural Comparison; Female; Genetic Predisposition to Disease; Genetic Testing; Genetic Variation; Genotype; Humans; Japan; Male; Middle Aged; Parkinson Disease; Proton-Translocating ATPases; Young Adult |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。