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


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


RESULTS
The same missense mutation, Arg779Leu, was identified in 14 WD patients, four of whom were homozygous and the other heterozygous for this mutation. The frequency of this mutation in Chinese patients was 30%.


CONCLUSIONS
The codon 779 (CCG-->CTG) of exon 8 of WD gene was one of mutation hotspots in Chinese.
Fan
Y
Y
State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University, Shanghai 200433, China.
Yu
L
L
Jiang
Y
Y
Xu
Y
Y
Yang
R
R
Han
Y
Y
Cui
Y
Y
Ren
M
M
Zhao
S
S
D000251:Adenosine Triphosphatases / Q000235:genetics*; D017668:Age of Onset; D001483:Base Sequence; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense
D027682:Cation Transport Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases