Related Experiment Videos
[A study of gene products encoded by Wilson disease gene]
1Department of Neurology, First Affiliated Hospital, Sun Yat-sen University of Medical Sciences, Guangzhou 510080, China.
Objective:
To investigate the pathogenesis of Wilson disease (WD) by detecting its gene products encoded by WD gene (ATP7B).
Methods:
Patients diagnosed as WD were analyzed by SDS-PAGE in conjunction with Western blot. Two antibodies were used, which are specially against the sixth copper binding domain (Anti-CuBD) and ATP binding domain (Anti-ABD) of WD protein.
Results:
The WD proteins were not expressed in two patients when using anti-CuBD, and poorly expressed when using anti-ABD.
Conclusions:
WD is highly heterogeneous in clinical manifestations and inheritance pattern. Two WD patients might simultaneously have exon 5 mutations and exon 8 mutations. The study of WD gene products would probe into the pathogenesis of WD.