title: Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.
abstract: BACKGROUND
  Wilson disease is a rare disorder of copper metabolism due to mutation in ATP7B gene. Proper counseling of patients with Wilson disease, and their families necessitates finding mutation in ATP7B gene. Finding mutations in ATP7B gene with 21 exons, and more than 500 mutations is expensive and time-consuming.
  
  
  OBJECTIVE
  The aim of this study was to provide a simple multiplex amplification refractory mutation system PCR (M-ARMS-PCR) for screening eight common mutations in ATP7B gene.
  
  
  METHODS
  Two sets of ARMS mutant and normal specific primer pairs were designed for genotyping of p.R778L, p.R969Q, p.H1069Q, and p.3400delC mutations as Set 1 and p.W779G, c.3061-1G > A, p.I1102T, and p.N1270S mutations as Set 2. The Multiplex ARMS assay was then subsequently tested in 65 patients with Wilson disease with known and unknown ATP7B mutations.
  
  
  RESULTS
  Using these two sets, we identified H1069Q mutation in four patients, c.2335T > G mutation in three, c.3061-1G > A splice site mutation in five, c.3305T > C mutation in one, and c.3809A > G mutation in two patients.
  
  
  CONCLUSIONS
  The Multiplex ARMS assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with Wilson disease.
authors.affiliation: Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, IR Iran ; Department of Molecular Medicine, Shiraz University of Medical Sciences, Shiraz, IR Iran.
authors.forename: Hassan
authors.initials: H
authors.lastname: Dastsooz
authors.forename: Mohammad Hadi
authors.initials: MH
authors.lastname: Imanieh
authors.forename: Seyed Mohsen
authors.initials: SM
authors.lastname: Dehghani
authors.forename: Mahmood
authors.initials: M
authors.lastname: Haghighat
authors.forename: Maryam
authors.initials: M
authors.lastname: Moini
authors.forename: Majid
authors.initials: M
authors.lastname: Fardaei
keywords: Hepatolenticular Degeneration; Iran; Multiplex Polymerase Chain Reaction