title: Genetic analysis of cystic fibrosis in Pakistan: a preliminary report.
abstract: OBJECTIVE
  Evaluation of the incidence of common delta F508 mutation in a cohort of Pakistani children with Cystic Fibrosis (CF).
  
  
  METHODS
  The presence of the CFTR gene mutation at position 508 (delta F508) was evaluated in 15 consecutively presenting children with CF, proven by clinical features and an unequivocally positive sweat chloride test. The DNA from mononuclear cells was extracted and the delta F508 mutation assessed by the amplification refractory mutation system using the polymerase chain reaction.
  
  
  RESULTS
  The delta F508 mutation was found in 9 cases (60%), of which 5 were homozygous for the disorder.
  
  
  CONCLUSIONS
  In this preliminary study, the reported frequency of the delta F508 mutation in Pakistani children with CF is lower than the reported frequency among the Western Caucasian population. Further studies are needed to characterize the common genetic mutations in Pakistani children with CF.
authors.affiliation: Department of Paediatrics, Aga Khan University Medical Center, Karachi.
authors.forename: Z A
authors.initials: ZA
authors.lastname: Bhutta
authors.forename: T
authors.initials: T
authors.lastname: Moattar
authors.forename: U
authors.initials: U
authors.lastname: Shah
mesh_terms: D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000208:ethnology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007223:Infant; D009154:Mutation; D010154:Pakistan
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator