Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing

• 作 者: 范玉新 余龙 江萤 许月芳 杨任民 韩咏竹 崔映宇 任明山 赵寿元
• 出 处: Chinese Medical Journal
• 发表日期: 2000年02期
• 关键词: sequencing hotspot cycle mutation

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

Objective To screen for mutation hotspot of Wilson disease (WD) gene in Chinese population Methods Cycle Sequences was used to detect mutation in exon 8 of WD gene in 30 patients with Wilson disease Results The same missense mutation, Arg779 Leu, 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