在两个意大利家系中，家族性肌萎缩侧索硬化症与超氧化物歧化酶基因位点的铜伴侣之间不存在连锁关系。
Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees.
作者信息
Orlacchio A, Kawarai T, Massaro A M, St George-Hyslop P H, Sorbi S
机构信息
Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, 6 Queen's Park Crescent West, Toronto, Ontario, Canada.
出版信息
Neurosci Lett. 2000 May 12;285(2):83-6. doi: 10.1016/s0304-3940(00)01032-6.
We investigated the segregation of the copper chaperone for the superoxide dismutase (CCS) gene in two Italian families with amyotrophic lateral sclerosis lacking the mutations in superoxide dismutase 1 gene. We analyzed a total of 56 individuals; six people were affected. Diagnoses were made using the El Escorial criteria. The results of our study provide no evidence of a linkage between markers flanking the CCS gene and familial amyotrophic lateral sclerosis (FALS) in these FALS kindreds.
我们在两个超氧化物歧化酶1基因无突变的意大利肌萎缩侧索硬化症家族中，研究了超氧化物歧化酶铜伴侣蛋白（CCS）基因的分离情况。我们共分析了56名个体，其中6人患病。诊断采用埃尔埃斯科里亚尔标准。我们的研究结果没有提供证据表明在这些肌萎缩侧索硬化症家族中，CCS基因侧翼标记与家族性肌萎缩侧索硬化症（FALS）之间存在连锁关系。
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