[A study of gene products encoded by Wilson disease gene].
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.
Liang
X
X
Department of Neurology, First Affiliated Hospital, Sun Yat-sen University of Medical Sciences, Guangzhou 510080, China.
Hou
G
G
Chen
R
R
Xu
P
P
Huang
F
F
Wang
Y
Y
Yan
Z
Z
Ou c
D000251:Adenosine Triphosphatases / Q000032:analysis*; D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000032:analysis*; D027682:Cation Transport Proteins; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
D002352:Carrier Proteins; D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases