Conrad C, Andreadis A, Trojanowski J Q, Dickson D W, Kang D, Chen X, Wiederholt W, Hansen L, Masliah E, Thal L J, Katzman R, Xia Y, Saitoh T
Department of Neurosciences, School of Medicine, University of California-San Diego, La Jolla 92093-0624, USA.
Ann Neurol. 1997 Feb;41(2):277-81. doi: 10.1002/ana.410410222.
A dinucleotide repeat polymorphism in a tau intron was identified and used in a case-control study to analyze the genetic association of tau with several neurodegenerative diseases with tau pathology. Subjects with the homozygous tau AO alleles were excessively represented in the progressive supranuclear palsy (PSP) group, compared with the age-matched healthy control group. Consequently, this allele is more frequently found in PSP than in a group of healthy subjects. This trend was not found in Alzheimer's disease or parkinsonism-dementia complex of Guam, both of which are accompanied by major tau pathology. The result suggests a possible involvement of tau in the pathogenesis of PSP.
在一个tau内含子中鉴定出一种二核苷酸重复多态性，并将其用于一项病例对照研究，以分析tau与几种伴有tau病理改变的神经退行性疾病之间的遗传关联。与年龄匹配的健康对照组相比，纯合tau AO等位基因的受试者在进行性核上性麻痹（PSP）组中过度存在。因此，该等位基因在PSP中比在一组健康受试者中更常见。在阿尔茨海默病或关岛帕金森病-痴呆综合征中未发现这种趋势，这两种疾病均伴有主要的tau病理改变。结果表明tau可能参与了PSP的发病机制。
