Objective To amplify the ATP7B gene of Wilson disease (WD) patients by PCR and to sequence the amplification product, so as to characterize the possible mutations.Methods The genomic DNA of 41 WD patients, 10 normal controls and a WD genealogy (proband’s daughter and parents) were extracted.The fragments of exon 8 and 12 of ATP7B gene were amplified using PCR, and the PCR products were directly sequenced.Results No abnormality was found in the control group.Mutations of exon 8 were found in 11 WD patients, with 6 WD patients having Arg778Leu heterozygous mutations.Mutations of exon 12 were found in 4 WD patients, with 2 patients having Arg952Lys mutations.In the sibs of the WD patient, the proband’s daughter carried 2 heterozygous mutations: Arg778Leu mutation of exon 8 was from her father and Pro992Leu mutation of exon 13 from her mother; the proband’s parents were found as normal heterozygous carriers.Conclusion Exon 8 and 12 of ATP7B gene are prone to mutations in Chinese WD population, and the mutations of other exons, such as exon 13, also exist.