DNA测序证实的Wilson′s病ATP7B基因第14外显子一种新型移码突变

Identification of a novel frameshift mutation in Eson 14 of ATP7B gene in Chinese patients with Wilson's disease by DNA sequencing.

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（ＰＣＲＤＮＡ）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ＰＣＲＳＳＣＰ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ＰＣＲＤＮＡ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。

To investigate the mutation of Exon 14 in ATP7B genein Chinese patients with hapatolenticular degeneration.Methods:Exon 14 of ATP7B gene was amplified with PCR technique in patients and controls.Mutations were screened by single strand conformation ploymorphism(SSCP) analysis and further confirmed by cycle sequencing.Result:85 patients and 39 controls were screened.We found there were rwo types of shifts(Ⅰ、Ⅱtype)in both patients and controls.Each type of shifts was sequenced directly.We found a A insertion mutation after the 1046 codon and which leads to a frameshift mutation.Conclusion:The mutation of Exon 14 in ATP7B gene was investigated for the first time in China and a novel frameshift mutation was indentified.