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本文应用聚合酶链反应－单链构象多态性（ＰＣＲ－ＳＳＣＰ）银染技术，初步研究了１２２例Ｗｉｌｓｏｎ病患者ＡＴＰ７Ｂ基因第１８外显子的突变频率。发现３７例患者有ＰＣＲ－ＳＳＣＰ异常迁移，提示中国人Ｗｉｌｓｏｎ病患者ＡＴＰ７Ｂ基因第１８外显子可能为一突变高发区。
In this study, polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) silver staining technique was used to study the frequency of mutation of exon 18 of ATP7B gene in 122 Wilson disease patients. The abnormal migration of PCR-SSCP was found in 37 patients, suggesting that exon 18 of ATP7B gene may be a high-incidence mutation in Chinese patients with Wilson’s disease.