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 ...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展开更多
文摘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
