Mutations in exon of ATP7B gene in Chinese patients with Wilson's disease / 第二军医大学学报

ABSTRACT

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.