[Study on mutation of exon 8 of Wilson's disease gene].
OBJECTIVE
To analyze the frequency of mutation in exon 8 of Wilson's disease (WD) gene in Chinese people.


METHODS
Screening for ATP7B gene mutation was conducted in 45 WD patients. Mobility shift of exon 8 was analyzed by SSCP. Nucleotide sequence of exon 8 was analyzed, and the PCR products were cut by enzyme Msp I. The authors found G2273T mutation at codon 778, and according to this mutation sequence, made an analysis of enzyme cut by Msp I in all patients. 2 WD families were analyzed.


RESULTS
No abnormality was found in 20 controls. In 45 patients, 2 were homozygous (4.4%) and 11 heterozygous (12.2 ). The positive rate of mutation was 16.67%. The Arg778Leu mutation was validated by this study.


CONCLUSIONS
The mutation in exon 8 of WD gene may play an important role in pathogenesis of Wilson's disease in Chinese.
Xu
P
P
Department of Neurology, First Affiliated Hospital, Sun Yat-sen University of Medical Sciences, Guangzhou, 510080, P. R. China.
Liang
X
X
Ma
S
S
D005091:Exons; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational