[Study on relationship between Arg778Leu/Gln gene mutation spot in ATP7B and TCM syndrome type in Chinese patients with Wilson disease].
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.


CONCLUSIONS
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.
Yang
Bin
B
Institute of Neurology, Anhui College of TCM, Hefei 230031.
Hu
Ji-yuan
JY
Hong
Ming-fan
MF
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D001120:Arginine / Q000235:genetics; D044466:Asian People; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D000073840:Copper-Transporting ATPases; D003937:Diagnosis, Differential; D005091:Exons; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008516:Medicine, Chinese Traditional; D010641:Phenotype; D017354:Point Mutation
D027682:Cation Transport Proteins; D001120:Arginine; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases; D007930:Leucine