肝豆状核变性杂合子成纤维细胞中的铜含量异常

COPPER ACCUMULATION ABNORMALITIES IN HEPATQLENTICULAR DEGENERATION HETEROZYGOUS FIBROBLASTS

在建立肝豆状核变性(hepatolenticular degeneration,HLD)体外模型的基础上,本文进一步研究了10例本病杂合子培养的皮肤成纤维细胞中铜含量及其分布。结果表明,杂合子细胞中含铜量的平均值介于对照组与患者之间,统计学分析表明,它比对照组多,而比患者少,其差别均有显著性意义。由此推论,肝豆状核变性基因呈杂合状态。成纤维细胞是研究本病基因表达以及研究杂合子检出的可靠材料。

Hepatolentioular degeneration (HLD) is an autoaomal reoessively inherited disease caused by copper metabolic dysfunction. Its primary genetic defect is still unknown. In this paper, we report the concentration of intraoellular copper determined by anodic stripping voltammetry (ASV) in fibroblasts from-10 definite HLD heterozygotes. Results reveal that the genetic abnormality in copper accumulation is also expressed in heterozygous fibroblasts, ie, the amount of copper in heterozygous cells is higher than that of controls (P<0.01), but less than that of patients(P<0.05). Therefore HLD heterozygote may possibly be, detected of thia method is proved absolutely accurate.