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目的：了解中国人肝豆状核变性患者基因（ＡＴＰ７Ｂ基因） 第１４ 外显子（ｅｘｏｎ１４） 的突变情况，为该病的基因诊断和治疗提供依据。方法：用聚合酶链反应（ＰＣＲ） 扩增ＡＴＰ７Ｂ基因的第１４ 外显子片段，通过ＤＮＡ 单链构象多态（ＳＳＣＰ） 筛选，以ＰＣＲ产物（ＰＣＲＤＮＡ）循环测序予以鉴定。结果：在８５ 例肝豆状核变性患者和３９ 例正常人的ＰＣＲＳＳＣＰ均呈现两种泳动带型（ Ⅰ、Ⅱ型） ，我们分别对两组中各种带型的ＰＣＲＤＮＡ进行循环测序，发现Ⅱ型中ＷＤ 患者第１０４６ 密码子后插入了碱基Ａ（１０４６ｉｎｓＡ） 而产生移码突变。结论：肝豆状核变性患者中发现一种未见报道的新型移码突变。
Objective: To understand the mutation of exon 14 gene in Chinese patient with hepatolenticular degeneration (ATP7B gene), and to provide basis for gene diagnosis and treatment of the disease. METHODS: The exon 14 of ATP7B gene was amplified by polymerase chain reaction (PCR) and screened by single strand conformation polymorphism (SSCP). PCR products were identified by PCR. Results: PCR-SSCP of 85 cases of hepatolenticular degeneration and 39 normal individuals showed two types of bands (type I and type II). We carried out PCR-DNA of various bands in two groups Cyclic sequencing revealed a base-A (1046insA) insertion after the codon 1046 in Type II WD patients resulting in a frameshift mutation. Conclusion: A novel frameshift mutation has not been reported in patients with hepatolenticular degeneration.