Detection and analysis of the mutation of exon 12,14,18 of Wilson's disease gene iocated in Xuzhou

Obiective: To sequence and study the exon 12,14,18 of hepatolenticular degeneration gene(Wilson's disease,WD) located Xuzhou of China,and to establish the ATP gene mutation hot test platform.Methods:Extract the genomic DNA from 45 WD patients and 50 normal controls,and amplify exon 12,14,18 of ATP7B gene by polymerase chain reaction(PCR).The amplifi cation products of exon12 were digestcd with Tail respectively followed by sequencing the PCR products of exon 12,14,18 from all the patients and normal controls.The correlation between the mutation and clinical manifestation were stucdied.Results:six of the 45 patients were found with mutations.Digested by Tail through amelioration No case was abnormal.Direct sequence result shows that nine patients were found with 2855G→A(Ar9952Lys) polymorphism,one of them had 2828G→A(Gly943Asp) heterozygous mutation in exon 12,five patients were found with 3884C-T(Ala1295Val)heterozygous mutation,two of them were found with 3889G-A(Val1297lle) polymorphism in exon 18,No mutations were found in exon 14.Conclusions: Exon 18 of ATP7B gene maybe is the hot points of WD genetic mutation in the population of Xuzhou,and maybe it is the exons which should be detected preferentially when screening doubtful WD pationts.exon 12 and exon 14 of ATP7B gene maybe is not the hot points of WD genetic mutation in the population of Xuzhou.