目的应用酶切方法对中国人肝豆状核变性患者ＡＴＰ７Ｂ基因中的高频突变点进行检测，并对家系进行基因诊断分析。方法根据高频突变点所处序列设计合适的内切酶ＭｓｐⅠ，对中国人肝豆状核变性３９个家系４５个患者以及６０例正常人的ＡＴＰ７Ｂ基因８号外显子ＰＣＲ扩增后进行酶切分析。对有异常者进行序列分析（自动测序）。结果正常人组未见异常，患者组有２例突变纯合子，占患者总数４４％，１１例杂合子，占患者总数２４４％。酶切的异常率为２８８％。序列分析证实所有异常表现者均为Ｇ２２７３Ｔ置换，即Ａｒｇ７７８Ｌｅｕ突变。并检测和分析了３个高频突变家系。结论ＡＴＰ７Ｂ基因的８号外显子７７８密码子为中国人肝豆状核变性患者的高频突变点。用ＰＣＲ－酶切的方法可以作为检测中国人肝豆状核变性患者基因突变的快速诊断方法 Objective To detect the high frequency mutation point of ATP7B gene in Chinese patients with hepatolenticular degeneration by enzyme-digestion method, and to analyze the genetic diagnosis of the pedigree. Methods Based on the sequence of the high frequency mutation point, we designed a suitable endonuclease MspⅠ to amplify exon 8 of exon7 of ATP7B gene in 45 Chinese patients with Wilson’s disease and 45 normal controls. analysis. Sequence abnormalities (automatic sequencing). Results There was no abnormality in the normal group. There were 2 homozygotes in the patient group, accounting for 44% of the patients and 11 heterozygotes, accounting for 244% of the total. The abnormal rate of digestion was 288%. Sequence analysis confirmed that all abnormalities were G2273T substitutions, namely Arg778Leu mutation. Three high frequency mutant lineages were detected and analyzed. Conclusion The 778 codon of exon 8 of ATP7B gene is a high-frequency mutation in Chinese patients with hepatolenticular degeneration. PCR-digested method can be used as a rapid diagnostic method to detect gene mutations in Chinese patients with Wilson’s disease