IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN WILSONS-DISEASE GENE

Objective To investigate the allelic heterogeneity of the ATP7B gene i n Chinese patients with Wilson's disease (WD). Methods Exons of the AT P7B gene from 141 WD patients' DNA were amplified with polymerase chai n reaction (PCR) 887-890. Mutations were then screened by single stran d conformation polymorphism (SSCP) analysis and further identified by sequencing. Results The molecular structure of exon 7 of the ATP7B gen e from 141 WD patients was analyzed. The same band shift in electropho retic pattern of 4 cerebral type patients was identified with SSCP and subsequently sequenced. The results showed missense mutation at the s econd base of the codon as Ser 662 Cys, which is caused by a C to G tr ansversion. Conclusions Mutations of the ATP7B gene were investigated for the first time in China and a never missense mutation was identifi ed in four cases.