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目的:了解中国人肝豆状核变性患者ATP7B基因第18外显子的突变情况,以期为该病的基因诊断提供依据。方法:采用PCR-SSCP技术对患者及健康对照组的DNA扩增片断进行筛选,对其中异常的迁移带型行DNA测序。结果:30例对照组SSCP呈一种带型,122例患者中37例分别呈4种不同的异常迁移带型,泳动异常率为30.33%(37/122)。DNA测序结果表明SSCP呈I型的患者第3772位点C缺失而产生移码突变。结论:在中国人肝豆状核变性患者中发现一种新型移码突变。
OBJECTIVE: To understand the mutation of exon 18 of ATP7B gene in Chinese patients with hepatolenticular degeneration, in order to provide a basis for gene diagnosis of this disease. Methods: The amplified DNA fragments of patients and healthy controls were screened by PCR-SSCP, and the abnormal migration bands were sequenced. Results: The SSCP of 30 cases of control group showed a band pattern. Among the 122 cases, 37 cases showed four different types of abnormal migration zone. The rate of abnormal migration was 30.33% (37/122). DNA sequencing results showed that SSCP was type I patients at 3772 point C deletion and produce a frameshift mutation. Conclusion: A novel frameshift mutation was found in patients with hepatolenticular degeneration in China.