微管相关蛋白Tau基因是中国汉族人群肌萎缩侧索硬化症地易感基因？.docVIP

MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population Pu Fang, Wenyuan Xu, Chengsi Wu, Min Zhu, Xiaobing Li, Daojun Hong Department of Neurology, the First Affiliated Hospital of Nanchang University, Nanchang 330006, Jiangxi Province, China 窗体顶端 Abstract: A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau (MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis. Here, we tested this association in 107 sporadic amyotrophic lateral sclerosis patients and 100 healthy controls from the Chinese Han population. We screened the mutation-susceptible regions of MAPT – the 3′ and 5′ untranslated regions as well as introns 9, 10, 11, and 12 – by direct sequencing, and identified 33 genetic variations. Two of these, 105788 A G in intron 9 and 123972 T A in intron 11, were not present in the control group. The age of onset in patients with the 105788 A G and/or the 123972 T A variant was younger than that in patients without either genetic variation. Moreover, the pa-tients with a genetic variation were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype. This led to a shorter survival period in patients with a MAPT genetic variant. Our study suggests that the MAPT gene is a potential risk gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population. Key words： neural regeneration; sporadic amyotrophic lateral sclerosis; microtubule-associated protein Tau gene; MAPT; Chinese Han population; genotype; neuroregeneration; 窗体底端 Acceptance date: 2013-07-03 ???? Cite this article: Pu Fang, Wenyuan Xu, Chengsi Wu, Min Zhu, Xiaobing Li, Daojun Hong. MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population[J]. Neural Regeneration Research, 2013, 8(33): 3116-3123.