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目的对中国人ＷＤ基因８号外显子进行突变分析。方法对中国人Ｗｉｌｓｏｎ＇ｓ病（Ｗｉｌｓｏｎ＇ｓｄｉｓｅａｓｅ，ＷＤ）４５例患者以及２０例正常人的ＡＴＰ７Ｂ基因８号外显子进行ＳＳＣＰ分析，对有异常者进行测序，根据突变点序列设计合适的内切酶对所有患者进行酶切分析。结果正常组未见异常。患者组发现ｅｘ－ｏｎ８有泳动异常，序列分析证实Ｇ２２７３Ｔ置换，即Ａｒｇ７７８Ｌｅｕ突变。用限制性内切酶ＭｓｐⅠ对４５例患者以及２０例正常对照进行该位点酶切分析，表明正常组未见异常，患者组有２例突变纯合子，占患者总数４．４％，１１例杂合子，占１２．２％。外显子８的Ａｒｇ７７８Ｌｅｕ突变率占ＷＤ突变基因的１６．６７％。检测了２个突变家系。结论８号外显子突变可能是中国人ＷＤ发病的较重要原因。
Objective To analyze the mutation of exon 8 of Chinese WD gene. Methods SSCP analysis of exon 8 of ATP7B gene was performed in 45 Chinese patients with Wilson’s disease (Wilson’s disease WD) and 20 normal subjects. Sequences with abnormalities were sequenced, and appropriate endosomal Enzymatic digestion analysis of all patients. Results no abnormalities in the normal group. In the patient group, ex-on8 was found to have abnormal motility, and sequence analysis confirmed the G2273T substitution, the Arg778Leu mutation. Restriction endonuclease MspⅠin 45 patients and 20 normal controls were analyzed by restriction enzyme digestion, which showed that there were no abnormalities in the normal group. There were 2 homozygotes in the group, accounting for 4.4% of the total, and 11 Heterozygotes, accounting for 12.2%. The Arg778Leu mutation rate of exon 8 accounted for 16.67% of the WD mutant gene. Two mutant families were tested. Conclusion Exon 8 mutation may be a more important cause of WD in Chinese.