Detection The Hot Spots Of ATP7B Gene Mutation In The Members Of A Family With A Patient Having Wilson's Disease.

Objectives To make a early gene diagnosis and analyze the mutation characteristics of ATP7B gene in the members of a Wilson′s family by detecting the hot spots of ATP7B gene mutation in Chinese patients with Wilson′s disease.Methods The genomic DNA was extracted from Peripheral blood from the family members.The fragments of exon 8,12,13 of ATP7B gene were amplified by polymerase chain reaction(PCR) and PCR products were sequenced bidirectionally.Then we analyzed the result with BLAST online.ResultsⅠ1,Ⅰ2(proband),Ⅱ1 andⅡ2 have heterozygote missense mutation Arg778Leu (2333 G>T) and heterozygote nonsense mutation Leu770Leu (2310 C>G) on exon 8.Ⅰ1,Ⅰ2,Ⅰ3 andⅡ1 have heterozygote missense mutation Lys952Arg(2855 A>G)on exon 12. All the subjects have no mutations on exon 13.Conclusion Exon 8,12,13 of ATP7B gene should be detected in the members of a family with a proband having Wilson′s disease,which will help to diagnose pre-symptomatic patients and carriers earlily.