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Published on: March 29, 2017
Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing
1State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University, Shanghai 200433, China.
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%.
Conclusion:
The codon 779 (CCG-->CTG) of exon 8 of WD gene was one of mutation hotspots in Chinese.
