Complex mutations of ATP7B gene in Wilson's disease / 第二军医大学学报

ABSTRACT

Objective: To sequence the ATP7B gene in patients with Wilson's disease (WD) and to analyze the relationship between the mutations and WD. Methods: The genomic DNA was obtained from the oral mucosal cells of 67 clinically diagnosed WD patients; PCR was used to amplify all the exons 5' end→ 3' end of ATP7B gene. And the PCR products were subjected to DNA direct sequencing for mutations. Results: We found that the ATP7B gene mutation rate was 77.61% (52/67) in WD patients. Of these patients, 16 had homozygote mutations (including 12 patients with Arg778Leu and 4 with Arg919Gly), 5 had complex mutations, and 31 had simple hetrozygote mutations. Five types of the ATP7B gene complex mutations were rarely reported in China. Conclusion: We have identified 5 complex mutations of ATP7Bgene, which might be related to the development and progression of WD and deserves further study.