title: [Using fluorescence PCR analysis for early diagnosis and carriers detection of Chinese Wilson's disease].
abstract: OBJECTIVE
  To diagnose the pre-symptomatic cases of Chinese Wilson's disease(WD) and detect the potential carriers by using fluorescence PCR technique.
  
  
  METHODS
  Screening the high frequency spot Arg778Leu of WD gene mutation in 66 Chinese WD patients, 55 healthy family members and 30 controls, and selecting 3 random samples (2 from WD patients, 1 from controls) for DNA sequencing to testify the accuracy of fluorescence PCR.
  
  
  RESULTS
  Among 66 Chinese WD cases, 5 were found homozygous for mutation of Arg778Leu and 21 were compound heterozygous; the gene mutation rate was totally 39.4%. Out of 55 healthy family members, 12 were found heterozygous, and it was confirmed that 11 of these 12 individuals were WD gene carriers but not pre-symptomatic patients. The results of direct DNA sequencing consisted with those results detected by fluorescence PCR.
  
  
  CONCLUSIONS
  The Arg778Leu mutation in exon 8 is the high frequency spot of Chinese Wilson's disease gene. Fluorescence PCR analysis is a rapid, accurate gene diagnostic method and demonstrates a high detecting rate.
authors.affiliation: Department of Neurology, the First Affiliated Hospital, Sun Yat-Sen University of Medical Sciences, Guangzhou, Guangdong, 510080 P.R.China. fan.huang@263.net
authors.forename: F
authors.initials: F
authors.lastname: Huang
authors.forename: X
authors.initials: X
authors.lastname: Liang
authors.forename: P
authors.initials: P
authors.lastname: Xu
authors.forename: Z
authors.initials: Z
authors.lastname: Lin
authors.forename: X
authors.initials: X
authors.lastname: Zhou
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: G
authors.initials: G
authors.lastname: Hou
authors.forename: G
authors.initials: G
authors.lastname: Cheng
mesh_terms: D000293:Adolescent; D005260:Female; D005453:Fluorescence; D006580:Genetic Carrier Screening; D006527:Hepatolenticular Degeneration / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction