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本实验研究了不同浓度铜孵育对肝豆状核变性患者、杂合子及对照组离体培养皮肤成纤维细胞内铜含量的影响,发现经20μg/ml铜孵育12或24小时后,患者细胞浆内的铜/蛋白比值显著高于后两组(P<0.01),且与后两组完全无重叠,提示该方法可用于早期、临床表现不典型患者的诊断,并有可能成为症状前患者及产前诊断的有效方法。
This study investigated the effects of different concentrations of copper on the content of copper in cultured fibroblasts from hepatolenticular degeneration patients, heterozygotes and control group. After incubation with 20μg / ml copper for 12 or 24 hours, (P <0.01), and there was no overlap with the latter two groups, suggesting that this method can be used for the diagnosis of patients with atypical clinical manifestations and patients with pre-symptomatic and An effective method of prenatal diagnosis.