Orlacchio A, Kawarai T, Massaro A M, St George-Hyslop P H, Sorbi S
Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, 6 Queen's Park Crescent West, Toronto, Ontario, Canada.
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。
