title: Identification of a mutation hotspot in exon 8 of Wilson disease gene by cycle sequencing.
abstract: 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.
authors.affiliation: State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University, Shanghai 200433, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Fan
authors.forename: L
authors.initials: L
authors.lastname: Yu
authors.forename: Y
authors.initials: Y
authors.lastname: Jiang
authors.forename: Y
authors.initials: Y
authors.lastname: Xu
authors.forename: R
authors.initials: R
authors.lastname: Yang
authors.forename: Y
authors.initials: Y
authors.lastname: Han
authors.forename: Y
authors.initials: Y
authors.lastname: Cui
authors.forename: M
authors.initials: M
authors.lastname: Ren
authors.forename: S
authors.initials: S
authors.lastname: Zhao
mesh_terms: 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
chemical_list: D027682:Cation Transport Proteins; D004247:DNA; D000251:Adenosine Triphosphatases; D000073840:Copper-Transporting ATPases