[Identification of a novel missense mutation in Wilson disease gene].

OBJECTIVE

To investigate the allelic heterogeneity of ATP 7 B gene in Chinese patients.

METHODS

Exons of ATP7B gene from patient's DNA were amplified with PCR technique. Mutations were screened by single strand conformation polymorphism (SSCP) analysis and further confirmed by sequencing.

RESULTS

The molecular structure of exon 7 of the ATP7B gene from 141 WD patients was preliminarily analyzed. A similar band shift of 4 encephalopathy type patients was identified with SSCP and sequencing. There was a missense mutation, Ser 662 Cys, which was caused by a C to G transversion at the second base of the codon.

CONCLUSIONS

The mutations of Chinese ATP7B gene were investigated for the first time in China and a novel missense mutation was identified.