title: The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.
abstract: BACKGROUND
  Cystic fibrosis (CF) is produced by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) gene.
  
  
  METHODS
  One hundred twenty eight patients with CF were analysed for mutations in the CFTR gene in order to establish the frequency of CF mutations in the Romanian population. The chief methods of analysis were polymerase chain reaction (PCR) of DNA extracted from blood and electrophoresis of PCR products.
  
  
  RESULTS
  The frequency of F508del in CF chromosomes from Romania is approximately 56.3%. Other frequent mutations noted are: G542X (3.9%), W1282X (2.3%), and CFTRdele2,3(21 kb)(1.6%); the remaining mutations have frequencies below 1%.
  
  
  CONCLUSIONS
  We consider that the frequency of F508del in CF patients from Romania is higher than in previous reports, reaching 56.3%, probably owing to more rigorous selection of patients for genetic testing, allowing improved calculation of mutation frequencies.
authors.affiliation: Department of Cell and Molecular Biology, Iuliu Haţieganu University of Medicine and Pharmacy, 6 Pasteur Street, 400349 Cluj-Napoca, Romania. lfrentescu@umfcluj.ro
authors.forename: Lucian
authors.initials: L
authors.lastname: Frenţescu
authors.forename: Emma
authors.initials: E
authors.lastname: Brownsell
authors.forename: Joanna
authors.initials: J
authors.lastname: Hinks
authors.forename: Geraldine
authors.initials: G
authors.lastname: Malone
authors.forename: Helen
authors.initials: H
authors.lastname: Shaw
authors.forename: Livia
authors.initials: L
authors.lastname: Budişan
authors.forename: Michael
authors.initials: M
authors.lastname: Bulman
authors.forename: Martin
authors.initials: M
authors.lastname: Schwarz
authors.forename: Liviu
authors.initials: L
authors.lastname: Pop
authors.forename: Mirela
authors.initials: M
authors.lastname: Filip
authors.forename: Emil
authors.initials: E
authors.lastname: Tomescu
authors.forename: Simona
authors.initials: S
authors.lastname: Moşescu
authors.forename: Ioan
authors.initials: I
authors.lastname: Popa
authors.forename: Gheorghe
authors.initials: G
authors.lastname: Benga
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D012383:Romania / Q000453:epidemiology
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator