[Identification of a mutation hotspot in exon 8 of Wilson's disease gene by cycle sequencing].
OBJECTIVE
To screen for mutation hotspot of Wilson's disease (WD) gene in Chinese.


METHODS
Cycle sequencing was used to detect mutation in exon 8 of WD gene in 30 patients with WD.


RESULTS
The same missense mutation, Arg778Leu, was identified in 14 WD patients, four of which were homozygous and the others were heterozygous for this mutation. The frequency of this mutation was 30%.


CONCLUSIONS
The codon 778(CGG-->CTG) of exon 8 in WD gene was one of mutation hotspots in Chinese.
State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University,Shanghai, 200433 P. R. China. longyu@fudan.edu.cn
Y
Y
Xu
Y
Y
Fan
L
L
Yu
Y
Y
Jiang
R
R
Yang
Y
Y
Han
Y
Y
Cui
M
M
Ren
S
S
Zhao
D000293:Adolescent; D000328:Adult; D002648:Child; D005091:Exons; D005260:Female; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation