A Study on Mutation of ATP7B Gene of Wilson Disease

Objective: To study the common mutation types and forms of Wilson's Diseases(WD) ATP7B gene.Methods: Peripheral blood DNA were obtained from 30 patients and exons 5,8,12 of ATP7B gene were amplified by PCR and DNA sequencing was applied.Results: The 6 types of mutations found in 30 patients were all point mutation.Among them,5 were identified in exon 8,accounting for 40.00%;1 in exon 12,accounting for 23.33%.No mutation was observed in exon 5.Conclusions: Exons 8 and 12 of ATP7B gene may be the hot points of WD genetic mutation in the population,and Arg778Leu and Arg952Lys may be the mutation point of high frequency.Since no mutation was observed in exon 5,priority should be given to exons 8 and 12 in genetic mutation detection for WD patients.