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目的肝豆状核变性致病基因由２１个外显子或内含子组成，本文对中国人ＷＤ基因突变进行研究。方法应用ＰＣＲ－ＳＳＣＰ及ＰＣＲ－ＤＮＡ直接测序法对１５个ＷＤ患者基因组进行２号、５号外显子分析。结果未发现２号外显子显示单链构象多态性，在１５个ＷＤ患者中发现４个５号外显子存在单链构象多态性，ＤＮＡ分析表明为Ｔ插入突变。结论中国人ＷＤ基因５号外显子的Ｔ插入突变是一种新的突变方式。
Objective To study the pathogenicity of hepatolenticular degeneration by 21 exons or introns, and to study the WD gene mutation in Chinese. Methods Genomes of 15 WD patients were analyzed by PCR-SSCP and PCR-DNA direct sequencing. Results No exon 2 showed single-stranded conformation polymorphism. Four 15 exon samples were found to have single-stranded conformational polymorphism in 15 WD patients. DNA analysis indicated a T insertion mutation. Conclusion The T mutation of WD gene exon 5 in Chinese is a new mutation.