Objective: To investigate the relationship between Arg778Leu/Gln gene mutation spot in ATP7B and TCM Syndrome type in Chinese patients with Wilson disease (WD).
Methods: Exon 8 of ATP7B of 90 WD patients and 30 healthy controls were amplified by PCR and analysed by restriction enzyme Msp I, the TCM Syndrome type of the patients was differentiated at the same time.
Results: In the 90 WD patients, 34 with Arg778Leu/Gln of exon 8 were detected, among them 20 cases belonged to the TCM Syndrome type of endogenous Liver-Wind agitation.
Conclusion: Onset age of WD patients with Arg778Leu/Gln mutation is later than that without this mutation. Arg778Leu/Gln mutation might be related to the TCM Syndrome type of endogenous Liver-Wind agitation.
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