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目的研究中国人肝豆状核变性（ＷＤ）基因１２号外显子的突变特征，为建立直接基因诊断的方法提供理论依据。方法应用聚合酶链反应单链构象多态（ＰＣＲＳＳＣＰ）技术，对４４例无亲缘关系的确诊患者和６０名正常对照组进行ＷＤ基因第１２号外显子的突变检测，并用ＤＮＡ测序证实其突变性质和位置。结果８例患者在１２号外显子检测到２种错义突变，占１８％（８／４４），其中６例为Ｔｈｒ９３５Ｍｅｔ突变，２例为Ｇｌｙ９４３Ａｓｐ突变。结论中国人ＷＤ基因第１２号外显子的突变特征与西方人不同。这对于建立准确快速的直接基因诊断方法具有重要价值。
Objective To study the mutation characteristics of exon 12 in Chinese Wilson’s disease (WD) gene and provide a theoretical basis for the establishment of direct gene diagnosis. Methods The polymerase chain reaction-single strand conformation polymorphism (PCRSSCP) was used to detect the mutation of Exon 12 of WD gene in 44 unrelated confirmed patients and 60 normal controls and confirmed by DNA sequencing Its mutation nature and location. Results Eight missense mutations were detected in exon 12 of 12 patients, accounting for 18% (8/44). Of these, 6 were Thr935 Met mutations and 2 were Gly943 Asp mutations. Conclusion The Chinese mutation of exon 12 of WD gene is different from that of western people. This is of great value for establishing an accurate and rapid method of direct gene diagnosis.