| 肝豆状核变性杂合子成纤维细胞中的铜含量异常 |
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| 引用本文： | 陈秀珍,左伋,夏蓓莉,曹凤根,李采娟,李乃忠. 肝豆状核变性杂合子成纤维细胞中的铜含量异常[J]. 复旦学报(医学版), 1989, 0(6) |
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| 作者姓名： | 陈秀珍 左伋 夏蓓莉 曹凤根 李采娟 李乃忠 |
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| 作者单位： | 上海医科大学基础医学部医学遗传学研究室(陈秀珍，左伋，夏蓓莉，曹凤根，李采娟)，上海医科大学神经病学研究所(李乃忠) |
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| 摘 要： | 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。
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| 关 键 词： | 肝豆状核变性 皮肤 成纤维细胞 铜 代谢 |
COPPER ACCUMULATION ABNORMALITIES IN HEPATQLENTICULAR DEGENERATION HETEROZYGOUS FIBROBLASTS |
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| Chen Xiuzhen,Zuo ji,Xia Beili,Cao Fenggeng,Li Caijuan,Li Naizhong. COPPER ACCUMULATION ABNORMALITIES IN HEPATQLENTICULAR DEGENERATION HETEROZYGOUS FIBROBLASTS[J]. Fudan University Journal of Medical Sciences, 1989, 0(6) |
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| Authors: | Chen Xiuzhen Zuo ji Xia Beili Cao Fenggeng Li Caijuan Li Naizhong |
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| Abstract: | 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. |
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| Keywords: | hepatolentioalar degeneration skin fibroblast copper metaboliam |
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