| DNA多态性在肝豆状核变性症状前诊断中的应用 |
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| 引用本文： | 乐俊河 谢久永. DNA多态性在肝豆状核变性症状前诊断中的应用[J]. 中华儿科杂志, 1996, 34(1): 8-10 |
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| 作者姓名： | 乐俊河 谢久永 |
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| 基金项目： | 国家自然科学基金，国家教委留学回国人员启动基金，美国中华医学基金 |
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| 摘 要： | 为探寻肝豆状核变性早期确诊的方法，应用ＤＮＡ多态性对中国北方２０个ＷＤ家系中２０名表型正常的先证者同胞进行了症状前诊断。结果：１人被确诊为症状前患者，８人为正常个体，７人为杂合子，４人可能是正常个体，也可能是杂合子，２人可能是症状前患者，也可能是杂合子，只有１人无法分析，临床诊断率为８６．９％，为肝豆状核变性先证者同胞提供了可靠的症状前诊断方法。
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| 关 键 词： | 肝豆状核变性 DNA 多态性 诊断 |
A study on presymptomatic diagnosis of Wilson disease with DNA polymorphic analysis |
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| Le Junhe,Xie Jniyong, Fang Bbo,et al.. A study on presymptomatic diagnosis of Wilson disease with DNA polymorphic analysis[J]. Chinese journal of pediatrics, 1996, 34(1): 8-10 |
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| Authors: | Le Junhe Xie Jniyong Fang Bbo et al. |
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| Affiliation: | Le Junhe,Xie Jniyong, Fang Bbo, et al. |
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| Abstract: | DNA polymorphic analysis Was performed in 23 cases of normal sibs of probans from 20wilson disease (WD) families in the north of China. The result showed that 1 out of 23 was presymp-tomatic patient, 8 were normal individuals, 7 were heterozygotes, 4 were either normal individuals orheterozygotes, 2 were either presymptomatic patients or heterozygotes and only one could not be anal-ysed. The rate of successful diagnosis was 86. 9%. It is concluded that this method provides a reliableapproach to presymptomatic diagnosis of WD. |
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| Keywords: | Hepatolenticular degeneration DNA Polymorphism Diagnosis |
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