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目的:了解中国人肝豆状核变性患者ATP7B基因第18外显子的突变情况,以期为该病的基因诊断提供依据.方法:采用PCR-SSCP技术对患者及健康对照组的DNA扩增片断进行筛选,对其中异常的迁移带型行DNA测序.结果:30例对照组SSCP呈一种带型,122例患者中37例分别呈4种不同的异常迁移带型,泳动异常率为30.33%(37/122).DNA测序结果表明SSCP呈I型的患者第3772位点C缺失而产生移码突变.结论:在中国人肝豆状核变性患者中发现一种新型移码突变.“,”Aim: To investigate the mutation of exon 18 in ATP7B gene in Chinese patients with Wilson's disease. Methods: Exon 18 of ATP7B gene was amplified with PCR technique in patients and controls. Mutations were screened by single strand conformation polymorphism(SSCP)analysis and further confirmed by sequencing. Results: 30 controls showed the same migration bands in PCR-SSCP, but abnormal migration bands were observed in 37 patients. The abnormal migration frequency was 30. 33 %(37/122). Sequencing of PCR products with type I of abnormal bands revealed a C deletion mutation at nucleotide 3772, which produces a frameshift mutation. Conclusion: A new frameshift mutation of exon 18 in ATP7B gene was investigated in Chinese patients with Wilson's disease.